Manton Center News & Publications

Read about the exciting recent discoveries by The Manton Center's Senior Scientists, Associates, and Innovation Fund Awardees

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Feature publications from The Manton Center fellows

Dr. Neha Nagpal:
Nagpal N, Wang J, Zeng J, Lo E, Moon DH, Luk K, Braun RO, Burroughs LM, Keel SB, Reilly C, Lindsley RC, Wolfe SA, Tai AK, Cahan P, Bauer DE, Fong YW, Agarwal S. Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells.Cell Stem Cell. 2020 Apr 17. pii: S1934-5909(20)30138-7. doi: 10.1016/j.stem.2020.03.016.

Dr. Zhongjie Fu:
Fu Z, Chen CT, Cagnone G, Heckel E, Sun Y, Cakir B, Tomita Y, Huang S, Li Q, Britton W, Cho SS, Kern TS, Hellström A, Joyal JS, Smith LE. Dyslipidemia in retinal metabolic disorders. EMBO Mol Med. 2019 Oct;11(10):e10473. doi: 10.15252/emmm.201910473. Epub 2019 Sep 5. Review.

Dr. Mehdi Pirouz:
1. Mehdi Pirouz, Chih-Hao Wang, Qi Liu, Aref G. Ebrahimi, Farnaz Shamsi, Yu-Hua Tseng & Richard I. Gregory. T Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis. Nature Communications. May 2020.
2. Pirouz M, Munafò M, Ebrahimi AG, Choe J, Gregory RI. Exonuclease requirements for mammalian ribosomal RNA biogenesis and surveillance. Nat Struct Mol Biol. 2019 Jun;26(6):490-500.
3. Mehdi Pirouz, Aref G. Ebrahimic, Richard I. Gregorya. Unraveling 3′-end RNA uridylation at nucleotide resolution. Methods. Nov 2019. 155:10-19.

Recent Manton GDC Publications

Beam K, Wojcik MH, Agrawal PB, Smithers C, Estroff J. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 Apr;21(4):e286-e292.

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 Apr 2;106(4):570-583.

Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020 Mar 11.

Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol. 2020 Feb 24.

D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 Apr;182(4):780-784.

Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 Apr;87(4):568-583.

Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10;4:32.

Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2020 Mar 2;130(3):1431-1445.

Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020 Feb;87(2):217-232.

Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 Apr;22(4):736-744.

Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S,Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 Feb;22(2):449.

Archived publications from The Manton Center GDC and associates

2019 publications

Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 Dec;176(12):2768-2776.

Fu C, Luo S, Zhang Y, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019 Feb;48 103-108.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 Dec 6;103(6):930-947.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2019 Jul;21(7):1585-1593.

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT,Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 Nov 26;13(1):212.

David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE; ACMG Social Ethical Legal Issues Committee. Patient re-contact after revision of genomic test results: points to consider- a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 Apr;21(4):769-771.

2017 publications

Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan DJ, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 Oct;38(10):1348-1354.

Chen YW, Huang SX, de Carvalho ALRT, Ho SH, Islam MN, Volpi S, Notarangelo LD, Ciancanelli M, Casanova JL, Bhattacharya J, Liang AF, Palermo LM, Porotto M, Moscona A, Snoeck HW. A three-dimensional model of human lung development and disease from pluripotent stem cells. Nat Cell Biol. 2017 May;19(5):542-549.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 Apr 19;9(386). pii:eaal5209.

Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle Nerve. 2017 Nov;56(5):943-953.

Holm IA, Yu TW, Joffe S. From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. Genet Test Mol Biomarkers. 2017 Mar;21(3):178-183.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M,Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017 Apr;136(4):463-479.

Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 Mar 9;168(6):1053-1064.e15.

Tsanov KM, Daley GQ. Signaling through RNA-binding proteins as a cell fate regulatory mechanism. Cell Cycle. 2017 Apr 18;16(8):723-724.

Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Eur J Med Genet. 2017 May;60(5):245-249.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr;49(4):606-612.

Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Mol Ther. 2017 Apr 5;25(4):839-854.

Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151.

Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AHM, Aufox SA, Brilliant MH, Campos D, Carrell DS, Connolly J, Conway P, Fullerton SM, Garrison NA, Horowitz CR, Jarvik GP, Kaufman D, Kitchner TE, Li R, Ludman EJ, McCarty CA, McCormick JB, McManus VD, Myers MF, Scrol A, Williams JL, Shrubsole MJ, Schildcrout JS, Smith ME, Holm IA. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet. 2017 Mar 2;100(3):414-427.

Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ. Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Sci Transl Med. 2017 Feb 8;9(376).

Holm IA. Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests. Genet Test Mol Biomarkers. 2017 Mar;21(3):155-158.

Woodworth MB, Girskis KM, Walsh CA. Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 Apr;18(4):230-244.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb;139(2). pii:e20162252.

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 Jul;19(7):809-818.

2016 publications

Mathew RS, Tatarakis A, Rudenko A, Johnson-Venkatesh EM, Yang YJ, Murphy EA, Todd TP, Schepers ST, Siuti N, Martorell AJ, Falls WA, Hammack SE, Walsh CA, Tsai LH, Umemori H, Bouton ME, Moazed D. A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 Dec 21;5. pii:e22467.

Tsanov KM, Pearson DS, Wu Z, Han A, Triboulet R, Seligson MT, Powers JT, Osborne JK, Kane S, Gygi SP, Gregory RI, Daley GQ. LIN28 phosphorylation by MAPK/ERK couples signalling to the post-transcriptional control of pluripotency. Nat Cell Biol. 2017 Jan;19(1):60-67.

Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23;92(4):813-828.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 Mar;120(3):213-222.

Johnson MB, Walsh CA. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 Feb;42:9-16.

Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017;35:7-15.

Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives. The galactosemia network (GalNet). J Inherit Metab Dis. 2017 Mar;40(2):169-170.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 May;19(5):575-582.

Wahlster L, Daley GQ. Progress towards generation of human haematopoietic stem cells. Nat Cell Biol. 2016 Nov;18(11):1111-1117.

Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 Nov 1;48(11):850-860.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb;62(2):243-252.

Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry.2016 Sep 27;6(9):e901.

Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 May;55(5):761-765.

Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism, Nieto M, Walsh CA. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 6;167(2):341-354.e12.

Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H. A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. Blood Cells Mol Dis. 2016 Oct;61:46-7.

Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E. CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell. 2016 Dec 1;19(6):800-807.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001008.

Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607.

Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 Nov;64:77-79.

Zhang X, Chen MH, Wu X, Kodani A, Fan J, Doan R, Ozawa M, Ma J, Yoshida N, Reiter JF, Black DL, Kharchenko PV, Sharp PA, Walsh CA. Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25;166(5):1147-1162.e15.

Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE 4th, Agrawal PB, Sankaran VG. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000885.

Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G. Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016 Jul 29;11(7):e0159621.

Rowe RG, Wang LD, Coma S, Han A, Mathieu R, Pearson DS, Ross S, Sousa P, Nguyen PT, Rodriguez A, Wagers AJ, Daley GQ. Developmental regulation of myeloerythroid progenitor function by the Lin28b let-7-Hmga2 axis. J Exp Med. 2016 Jul 25;213(8):1497-512.

Garrison NA, Clayton EW, Smith ME, Holm IA. Response to Patryn and Zagaja. Genet Med. 2016 Jul;18(7):751.

Toh CX, Chan JW, Chong ZS, Wang HF, Guo HC, Satapathy S, Ma D, Goh GY, Khattar E, Yang L, Tergaonkar V, Chang YT, Collins JJ, Daley GQ, Wee KB, Farran CA, Li H, Lim YP, Bard FA, Loh YH. RNAi Reveals Phase-Specific Global Regulators of Human Somatic Cell Reprogramming. Cell Rep. 2016 Jun 21;15(12):2597 607.

Ulirsch JC, Nandakumar SK, Wang L, Giani FC, Zhang X, Rogov P, Melnikov A, McDonel P, Do R, Mikkelsen TS, Sankaran VG. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016 Jun 2;165(6):1530-1545.

Rowe RG, Mandelbaum J, Zon LI, Daley GQ. Engineering Hematopoietic Stem Cells: Lessons from Development. Cell Stem Cell. 2016 Jun 2;18(6):707-20.

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066.

Conway-Pearson LS, Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon P, Cacioppo CN, Green RC, Holm IA. Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 Dec;18(12):1308-1311.

Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786.

Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol. 2016 Jun;186(6):1568-81.

Cacioppo CN, Chandler AE, Towne MC, Beggs AH, Holm IA. Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study. PLoS One. 2016 Apr 15;11(4):e0153597.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol. 2016 Jun;79(6):959-69.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9.

Basak A, Sankaran VG. Regulation of the fetal hemoglobin silencing factor BCL11A. Ann N Y Acad Sci. 2016 Mar;1368(1):25-30.

Evrony GD, Lee E, Park PJ, Walsh CA. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22;5. pii:e12966.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May;170A(5):1165-73.

Bush WS, Crosslin DR, Owusu-Obeng A, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, Kitchner T, Manzi S, Mejia AR, Pan V, Perry CL, Peterson JF, Prows CA, Ralston J, Scott SA, Scrol A, Smith M, Stallings SC, Veldhuizen T, Wolf W, Volpi S, Wiley K, Li R, Manolio T, Bottinger E, Brilliant MH, Carey D, Chisholm RL, Chute CG, Haines JL, Hakonarson H, Harley JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie MD. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 Aug;100(2):160-9.

Nandakumar SK, Ulirsch JC, Sankaran VG. Advances in understanding erythropoiesis: evolving perspectives. Br J Haematol. 2016 Apr;173(2):206-18.

Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL,Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC. Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cereb Cortex. 2017 Feb 1;27(2):1670-1685.

Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. J Cancer. 2016 Jan 1;7(1):32-6.

Spinazzola JM, Kunkel LM. Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016;4(11):1179-1194.

Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan;48(1):74-8.

Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A(2):297-305.

D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 2;88(5):910-917.

Goddard MA, Mack DL, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK. Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. Ann Transl Med. 2015 Oct;3(18):262.

Childers MK, Beggs AH, Buj-Bello A. Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. Ann Transl Med. 2015 Oct;3(17):257.

Uosaki H, Cahan P, Lee DI, Wang S, Miyamoto M, Fernandez L, Kass DA, Kwon C. Transcriptional Landscape of Cardiomyocyte Maturation. Cell Rep. 2015 Nov 24;13(8):1705-16.

Garrison NA, Sathe NA, Antommaria AH, Holm IA, Sanderson SC, Smith ME, McPheeters ML, Clayton EW. A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. Genet Med. 2016 Jul;18(7):663-71.

Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19;163(5):1204-1213.

Wakabayashi A, Sankaran VG. Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. Pediatr Res. 2016 Mar;79(3):366-70.

Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ. Disorders of Microtubule Function in Neurons: Imaging Correlates. AJNR Am J Neuroradiol. 2016 Mar;37(3):528-35.

Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet. 2016 Jan;135(1):21-30.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016;28:49-57.

Merner ND, Chandler MR, Bourassa C, Liang B, Khanna AR, Dion P, Rouleau GA, Kahle KT. Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. Front Cell Neurosci. 2015 Oct 12;9:386.

Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS; Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium; Pediatrics Workgroup of the Clinical Sequencing Exploratory Research CSER Consortium. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan;168:226-31.e1.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb;170A(2):435-440.

2015 publications

Wu L, Nguyen LH, Zhou K, de Soysa TY, Li L, Miller JB, Tian J, Locker J, Zhang S, Shinoda G, Seligson MT, Zeitels LR, Acharya A, Wang SC, Mendell JT, He X, Nishino J, Morrison SJ, Siegwart DJ, Daley GQ, Shyh-Chang N, Zhu H. Precise let-7 expression levels balance organ regeneration against tumor suppression. Elife. 2015 Oct 7;4:e09431.

Lodato MA, Woodworth MB, Lee S, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, D'Gama AM, Cai X, Luquette LJ, Lee E, Park PJ, Walsh CA. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 2;350(6256):94-98.

Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL, Perry C, Kitchner TE, Brilliant MH, Peissig PL, Borthwick KM, Williams MS, Grafton J, Jarvik GP, Holm IA, Harley JB. A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015 Sep 28;10(9):e0138677.

Danilova N, Gazda HT. Ribosomopathies: how a common root can cause a tree of pathologies. Dis Model Mech. 2015 Sep;8(9):1013-26.

Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan;17(1):11-6.

Yang BX, El Farran CA, Guo HC, Yu T, Fang HT, Wang HF, Schlesinger S, Seah YF, Goh GY, Neo SP, Li Y, Lorincz MC, Tergaonkar V, Lim TM, Chen L, Gunaratne J, Collins JJ, Goff SP, Daley GQ, Li H, Bard FA, Loh YH. Systematic identification of factors for provirus silencing in embryonic stem cells. Cell. 2015 Sep 24;163(1):230-45.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Hum Mol Genet. 2015 Nov 15;24(22):6278-92.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct;36(10):915-21.

Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. Am J Med Genet A. 2015 Nov;167A(11):2808-16.

Brownstein CA, Holm IA, Ramoni R, Goldstein DB; Members of the Undiagnosed Diseases Network. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct;36(10):985-8.

Adragna NC, Ravilla NB, Lauf PK, Begum G, Khanna AR, Sun D, Kahle KT. Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis. Front Cell Neurosci. 2015 Jul 9;9:255.

Cacchiarelli D, Trapnell C, Ziller MJ, Soumillon M, Cesana M, Karnik R, Donaghey J, Smith ZD, Ratanasirintrawoot S, Zhang X, Ho Sui SJ, Wu Z, Akopian V, Gifford CA, Doench J, Rinn JL, Daley GQ, Meissner A, Lander ES, Mikkelsen TS. Integrative Analyses of Human Reprogramming Reveal Dynamic Nature of Induced Pluripotency. Cell. 2015 Jul 16;162(2):412-424.

Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with biallelic RORC mutations. Science. 2015 Aug 7;349(6248):606-613.

Kahle KT, Khanna AR, Alper SL, Adragna NC, Lauf PK, Sun D, Delpire E. K-Cl cotransporters, cell volume homeostasis, and neurological disease. Trends Mol Med. 2015 Aug;21(8):513-23.

Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18;372(25):2409-22.

Begum G, Yuan H, Kahle KT, Li L, Wang S, Shi Y, Shmukler BE, Yang SS, Lin SH, Alper SL, Sun D. Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke. Stroke. 2015 Jul;46(7):1956-1965.

Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun;62(3):571-85.

Calderwood L, Holm IA, Teot LA, Anselm I. Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016. Feb;31(2):190-4.

Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H,Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015 Jun 1;212(6):939-51.

Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. JIMD Rep. 2015;24:91-6.

Coelho AI, Berry GT, Rubio-Gozalbo ME. Galactose metabolism and health. Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):422-7.

de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skelet Muscle. 2015 Apr 28;5:12.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015. Jun;72(6):689-98.

Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015 Apr 13;10(4):e0123829.

Diaz MF, Li N, Lee HJ, Adamo L, Evans SM, Willey HE, Arora N, Torisawa YS, Vickers DA, Morris SA, Naveiras O, Murthy SK, Ingber DE, Daley GQ, García-Cardeña G, Wenzel PL. Biomechanical forces promote blood development through prostaglandin E2 and the cAMP-PKA signaling axis. J Exp Med. 2015 May 4;212(5):665-80.

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 7;96(5):709-19.

Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, McCann KJ, Horwitz BH, Mathis D, Milford EL, Notarangelo LD, Roncarolo MG, Fiebiger E, Marasco WA, Bacchetta R, Quintana FJ, Pai SY, Klein C, Muise AM, Snapper SB. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015 Jun 18;125(25):3886-95.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28;84(17):1745-50.

Ceyhan-Birsoy O, Talim B, Swanson LC, Karakaya M, Graff MA, Beggs AH, Topaloglu H. Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. J Neuromuscul Dis. 2015;2(1):87-92.

Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, García-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL. Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015 Apr 24;348(6233):448-53.

Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar;3(2):92-8.

Lek A, Rahimov F, Jones PL, Kunkel LM. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May;21(5):295-306.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May;100(5):1723-30.

Sankaran VG, Weiss MJ. Anemia: progress in molecular mechanisms and therapies. Nat Med. 2015 Mar;21(3):221-30.

Shyh-Chang N, Daley GQ. Metabolic switches linked to pluripotency and embryonic stem cell differentiation. Cell Metab. 2015 Mar 3;21(3):349-50.

Murn J, Zarnack K, Yang YJ, Durak O, Murphy EA, Cheloufi S, Gonzalez DM, Teplova M, Curk T, Zuber J, Patel DJ, Ule J, Luscombe NM, Tsai LH, Walsh CA, Shi Y. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Genes Dev. 2015 Mar 1;29(5):501-12.

Johnson MB, Wang PP, Atabay KD, Murphy EA, Doan RN, Hecht JL, Walsh CA. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May;18(5):637-46.

Rechavi E, Lev A, Lee YN, Simon AJ, Yinon Y, Lipitz S, Amariglio N, Weisz B, Notarangelo LD, Somech R. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci Transl Med. 2015 Feb 25;7(276):276ra25.

Bae BI, Jayaraman D, Walsh CA. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23;32(4):423-34.

Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle. 2015 Jan 27;5(1):1.

Wang LD, Rao TN, Rowe RG, Nguyen PT, Sullivan JL, Pearson DS, Doulatov S, Wu L, Lindsley RC, Zhu H, DeAngelo DJ, Daley GQ, Wagers AJ. The role of Lin28b in myeloid and mast cell differentiation and mast cell malignancy. Leukemia. 2015 Jun;29(6):1320-30.

D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr;77(4):720-5.

Jang IH, Lu YF, Zhao L, Wenzel PL, Kume T, Datta SM, Arora N, Guiu J, Lagha M, Kim PG, Do EK, Kim JH, Schlaeger TM, Zon LI, Bigas A, Burns CE, Daley GQ. Notch1 acts via Foxc2 to promote definitive hematopoiesis via effects on hemogenic endothelium. Blood. 2015 Feb 26;125(9):1418-26.

Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 7;85(1):49-59.

Karimy JK, Kahle KT, Kurland DB, Yu E, Gerzanich V, Simard JM. A novel method to study cerebrospinal fluid dynamics in rats. J Neurosci Methods. 2015 Feb 15;241:78-84.

Alexander MS, Kunkel LM. Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015;2(1):1-11.

2014 publications

Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17;84(6):1240-57. PMC4485387.

Ulirsch JC, Lacy JN, An X, Mohandas N, Mikkelsen TS, Sankaran VG. Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation. PLoS Genet. 2014 Dec 18;10(12):e1004890.

Cahan P, Morris SA, Collins JJ, Daley GQ. Defining cellular identity through network biology. Cell Cycle. 2014;13(21):3313-4.

Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, Lingren T, Porollo A, Cobb BL, Perry C, Kottyan LC, Rothenberg ME, Thompson SD, Holm IA, Kohane IS, Harley JB. Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. Front Genet. 2014 Nov 18;5:401.

Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun;17(6):501-4.

Kumar RM, Cahan P, Shalek AK, Satija R, DaleyKeyser A, Li H, Zhang J, Pardee K, Gennert D, Trombetta JJ, Ferrante TC, Regev A, Daley GQ, Collins JJ. Deconstructing transcriptional heterogeneity in pluripotent stem cells. Nature. 2014 Dec 4;516(7529):56-61.

Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, Scarpa R, Horikawa R, Yamada M, Betterle C, Notarangelo LD, Yawaka Y, Ariga T. Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. Clin Immunol. 2015 Jan;156(1):36-42.

Notarangelo LD. Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling. Curr Opin Immunol. 2014 Dec;31:97-101.

Merlo P, Frost B, Peng S, Yang YJ, Park PJ, Feany M. p53 prevents neurodegeneration by regulating synaptic genes. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):18055-60.

Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E; Go-T2D Consortium, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014 Nov 6;95(5):509-20.

Schlaeger TM, Daheron L, Brickler TR, Entwisle S, Chan K, Cianci A, DeVine A, Ettenger A, Fitzgerald K, Godfrey M, Gupta D, McPherson J, Malwadkar P, Gupta M, Bell B, Doi A, Jung N, Li X, Lynes MS, Brookes E, Cherry AB, Demirbas D, Tsankov AM, Zon LI, Rubin LL, Feinberg AP, Meissner A, Cowan CA, Daley GQ. A comparison of non-integrating reprogramming methods. Nat Biotechnol. 2015 Jan;33(1):58-63.

Holm IA. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 1;2(4):212-215.

Oshima K, Imai K, Albert MH, Bittner TC, Strauss G, Filipovich AH, Morio T, Kapoor N, Dalal J, Schultz KR, Casper JT, Notarangelo LD, Ochs HD, Nonoyama S. Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J Clin Immunol. 2015 Jan;35(1):15-21.

Zhao R, Deibler RW, Lerou PH, Ballabeni A, Heffner GC, Cahan P, Unternaehrer JJ, Kirschner MW, Daley GQ. A nontranscriptional role for Oct4 in the regulation of mitotic entry. Proc Natl Acad Sci U S A. 2014 Nov 4;111(44):15768-73.

Unternaehrer JJ, Zhao R, Kim K, Cesana M, Powers JT, Ratanasirintrawoot S, Onder T, Shibue T, Weinberg RA, Daley GQ. The epithelial-mesenchymal transition factor SNAIL paradoxically enhances reprogramming. Stem Cell Reports. 2014 Nov 11;3(5):691-8.

Walter JE, Lo MS, Kis-Toth K, Tirosh I, Frugoni F, Lee YN, Csomos K, Chen K, Pillai S, Dunham J, Tsokos GC, Luning Prak ET, Notarangelo LD. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J Allergy Clin Immunol. 2015 Jan;135(1):272-3.

Hacein-Bey-Abina S, Pai SY, Gaspar HB, Armant M, Berry CC, Blanche S, Bleesing J, Blondeau J, de Boer H, Buckland KF, Caccavelli L, Cros G, De Oliveira S, Fernández KS, Guo D, Harris CE, Hopkins G, Lehmann LE, Lim A, London WB, van der Loo JC, Malani N, Male F, Malik P, Marinovic MA, McNicol AM, Moshous D, Neven B, Oleastro M, Picard C, Ritz J, Rivat C, Schambach A, Shaw KL, Sherman EA, Silberstein LE, Six E, Touzot F, Tsytsykova A, Xu-Bayford J, Baum C, Bushman FD, Fischer A, Kohn DB, Filipovich AH, Notarangelo LD, Cavazzana M, Williams DA, Thrasher AJ. A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med. 2014 Oct 9;371(15):1407-17.

Goddard MA, Burlingame E, Beggs AH, Buj-Bello A, Childers MK, Marsh AP, Kelly VE. Gait characteristics in a canine model of X-linked myotubular myopathy. J Neurol Sci. 2014 Nov 15;346(1-2):221-6.

Notarangelo LD. Multiple intestinal atresia with combined immune deficiency. Curr Opin Pediatr. 2014 Dec;26(6):690-6.

Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW. Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov;89(11):1471-80.

Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014 Sep 26;345(6204):1623-1627.

Hu WF, Chahrour MH, Walsh CA. The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014;15:195-213.

Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11;8(5):1280-9.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21;371(8):733-43.

Cahan P, Li H, Morris SA, Lummertz da Rocha E, Daley GQ, Collins JJ. CellNet: network biology applied to stem cell engineering. Cell. 2014 Aug 14;158(4):903-915.

Morris SA, Cahan P, Li H, Zhao AM, San Roman AK, Shivdasani RA, Collins JJ, Daley GQ. Dissecting engineered cell types and enhancing cell fate conversion via CellNet. Cell. 2014 Aug 14;158(4):889-902.

Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, Pulsipher MA, Davis JH, Güngör T, Gabriel M, Bleesing JH, Bunin N, Sedlacek P, Connelly JA, Crawford DF, Notarangelo LD, Pai SY, Hassid J, Veys P, Gennery AR, Cowan MJ. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol. 2014 Oct;134(4):935-943.e15.

O'Connell AE, Volpi S, Dobbs K, Fiorini C, Tsitsikov E, de Boer H, Barlan IB, Despotovic JM, Espinosa-Rosales FJ, Hanson IC, Kanariou MG, Martínez-Beckerat R, Mayorga-Sirera A, Mejia-Carvajal C, Radwan N, Weiss AR, Pai SY, Lee YN, Notarangelo LD. Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome. Front Immunol. 2014 Jul 18;5:340.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26.

Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW. Tissue triage and freezing for models of skeletal muscle disease. J Vis Exp. 2014 Jul 15;(89).

Savage SK, Ziniel SI, Stoler J, Margulies DM, Holm IA, Brownstein CA. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug;11(6):569-579.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Rep. 2014 Aug 7;8(3):647-55.

Alessi DR, Zhang J, Khanna A, Hochdörfer T, Shang Y, Kahle KT. The WNK-SPAK/OSR1 pathway: master regulator of cation-chloride cotransporters. Sci Signal. 2014 Jul 15;7(334):re3.

Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. J Allergy Clin Immunol. 2014 Dec;134(6):1375-1380.

Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 Oct;96(4):482-9.

Gupta VA, Beggs AH. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle. 2014 Jun 1;4:11.

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul;20(7):748-53.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y,Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep. 2014 Jul;15(7):766-74.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1;23(21):5781-92.

Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. PLoS Genet. 2014 May 29;10(5):e1004371.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5;94(6):818-26.

2011 publications

A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa.

Nature Comm, 2:153. DOI:10.1038/ncomms1153.

Chung, J-J, Navarro, B, Krapivinsky, G, Krapivinsky, L, and Clapham, DE. 2011.

1] Howard Hughes Medical Institute, Manton Center for Orphan Disease, Children's Hospital, Boston, Massachusetts 02115, USA.. [2] Department of Neurobiology, Harvard Medical School, Enders 1309, 320 Longwood Avenue, Boston, Massachusetts 02115, USA.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

J Clin Invest. 2011 Jan 4;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Skeletal Muscle2011, 1:23.

Lawlor MW, Ottenheijm CA, Lehtokari V-L, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA. beggs@enders.tch.harvard.edu.

Gene therapy for primary immunodeficiencies: Looking ahead, toward gene correction.

J Allergy Clin Immuno.2011;127:1344-50.

Pessach IM, Notarangelo LD.

Department of Pediatric Critical Care and Talpiot Medical Leadership Program, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Structural grading of foveal hypoplasia using spectral domain optical coherence tomography: A predictor of visual acuity?

Ophthalmology. 2011 April 28. [Epub ahead of print].

Thomas MG, Kumar A, Proudlock FA, Engle EC, Andrews C, Chan W-M, Thomas S, Gottlob, I.

Ophthalmology Group, School of Medicine, University of Leicester, Leicester, United Kingdom.

Two novel CHN1 mutations in two families with Duane's retraction syndrome.

Archives of Ophthalmology, 2011 129(5):649-52.

Chan W-M, Miyake N, Zhu-Tam L, Andrews C, Engle EC.

Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

Am J Pathol. 2011 Feb;178(2):784-93.

Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH. 

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Ultra fast and sensitive liquid chromatography andem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.

Mol Genet Metab. 2011 Jan;102(1):33-40. Epub 2010 Sep 21.

Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT.

The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.

Clin Chem. 2011 Apr;57(4):545-8.

Ptolemy AS, Li Y, Sanderson T, Khwaja O, Berry GT, Kellogg M.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. adam.ptolemy@covance.com.

Tet1 and Tet2 regulate 5-hydroxymethylcytosine production and cell lineage specification in mouse embryonic stem cells.

Cell Stem Cell. 2011 Feb 4;8(2):200-13.

Koh KP, Yabuuchi A, Rao S, Huang Y, Cunniff K, Nardone J, Laiho A, Tahiliani M, Sommer CA, Mostoslavsky G, Lahesmaa R, Orkin SH, Rodig SJ, Daley GQ, Rao A.

Immune Disease Institute and Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA.

Cellular therapy for fanconi anemia: the past, present, and future.

Biol Blood Marrow Transplant. 2011 Jan;17(1 Suppl):S109-14.

MacMillan ML, Hughes MR, Agarwal S, Daley GQ.

The Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Blood and Marrow Transplant Program, Minneapolis, Minnesota, USA. macmi002@umn.edu.

Stage-specific signaling through TGFβ family members and WNT regulates patterning and pancreatic specification of human pluripotent stem cells.

Development. 2011 Mar; 38(5):861-71. Epub 2011 Jan 26.

Nostro MC, Sarangi F, Ogawa S, Holtzinger A, Corneo B, Li X, Micallef SJ, Park IH, Basford C, Wheeler MB, Daley GQ, Elefanty AG, Stanley EG, Keller G.

McEwen Centre for Regenerative Medicine, University Health Network, Toronto, Ontario, Canada.

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome).

Blood. 2011 Jan 20;117(3):839-47. Epub 2010 Oct 29.

Tolar J, Park IH, Xia L, Lees CJ, Peacock B, Webber B, McElmurry RT, Eide CR, Orchard PJ, Kyba M, Osborn MJ, Lund TC, Wagner JE, Daley GQ, Blazar BR.

Division of Hematology-Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of MN, Minneapolis, MN, USA. tolar003@umn.edu.

Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative Mice.

PLoS One. 2011 Apr 29;6(4):e18992. PMID: 21559507.

Tucker BA, Park IH, Qi SD, Klassen HJ, Jiang C, Yao J, Redenti S, Daley GQ, Young MJ.

Department of Ophthalmology, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America. budd-tucker@uiowa.edu.

Induced pluripotent stem cells for neural tissue engineering.

Biomaterials. 2011 Apr 21, PMID: 21514663.

Wang A, Tang Z, Park IH, Zhu Y, Patel S, Daley GQ, Li S.

Department of Bioengineering, University of California, Berkeley, B108A Stanley Hall, Berkeley, CA 94720-1762, USA.

Investigating monogenic and complex diseases with pluripotent stem cells.

Nat Rev Genet. 2011 Apr;12(4):266-75. Epub 2011 Mar 9.

Zhu H, Lensch MW, Cahan P, Daley GQ.

Division of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.

Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance.

AJNR. Am J Neuroradiol. 2011 Mar 31.

Adachi Y, Poduri A, Kawaguch A, Yoon G, Salih MA, Yamashita F, Walsh CA, Barkovich AJ.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California.

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.

Am J Hum Genet. 2011 Apr 29.

Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.

Neural Dev. 2011 Jan 7;6:3.

Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR.

Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA. ndwyer@virginia.edu.

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.

Neuron. 2011 Mar 10;69(5):893-905.

Lehtinen MK, Zappaterra MW, Chen X, Yang YJ, Hill AD, Lun M, Maynard T, Gonzalez D, Kim S, Ye P, D'Ercole AJ, Wong ET, Lamantia AS, Walsh CA.

Division of Genetics, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.

Physiol Genomics. 2011 Apr 27;43(8):398-407. Epub 2011 Jan 25.

Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP Jr, Kunkel LM, Wagner KR.

Program in Genomics, Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, USA.

TRPM7, the Mg(2+) Inhibited Channel and Kinase.

Adv Exp MedBiol. 2011;704:173-83.

Bates-Withers C, Sah R, Clapham DE.

Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, 02115 Boston, MA, USA. cbateswithers@gmail.com.

Resveratrol Inhibits Pathological Retinal Neovascularization in Vldlr-/- Mice.

Invest Ophthalmol Vis Sci. 2011. Apr 25;52(5):2809-16.

Hua J, Guerin KI, ChenJ, Michan S, Stahl A, Krah NM, Seaward MR, Dennison RJ, Juan AM, Hatton CJ, Sapieha P, Sinclair D, Smith LE.

Department of Ophthalmology, Harvard Medical School, Children's Hospital, Boston, Massachusetts 02115, USA.

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Hum Mol Genet. 2011 May 1;20(9):1712-25. Epub 2011 Feb 4.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Hum Mol Genet. 2011 May 15;20(10):2015-25. Epub 2011 Feb 28.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam 1081 BT, The Netherlands. c.ottenheijm@vumc.nl.

Ddx18 is essential for cell cycle progression in zebrafish hematopoietic cells and is mutated in human acute myeloid leukemia.

Blood 2011 Jun 7. [Epub ahead of print].

Payne EM, Bolli N, Rhodes J, Abdel-Wahab O, Levine RL, Hedvat C, Stone R, Khanna-Gupta A, Sun H, Kanki J, Gazda HT, Beggs AH, Cotter F, and Look AT.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Current Opinion in Genetics and Development, 2011 Jun;21(3):286-94.

Tischfield MA, Cederquist GY, Gupta ML, Engle EC.

Department of Molecular Biology and Genetics, Johns Hopkins Medical School, 725 North Wolfe St., PCTB 804, Baltimore, MD 21205, United States.

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

J Allergy  Clin Immunol2011 May 12. [Epub ahead of print].

de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD.

Division of Immunology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Mass.

Long-term outcome and lineage-specific chimerism in  194 Wiskott-Aldrich Syndrome patients treated by hematopoietic cell transplantation between 1980-2009: an international collaborative study.

Blood2011 Jun 9. [Epub ahead of print].

Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Zanis Neto J, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A,  Friedrich W, Notarangelo LD.

"A. Nocivelli" Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disorders of Childhood, Spedali Civili, Brescia, Italy.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Curr Opin Genet Dev. 2011 Jun;21(3):333-9.

Manzini MC, Walsh CA.

Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, United States.

Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve.

2011 May;43(5):741-50. doi: 10.1002/mus.21972. Epub 2011 Feb 17.

Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM.

Howard Hughes Medical Institute, Center for Life Science, Room CLS15027.1, Boston Children's Hospital, 3 Blackfan Circle, Boston, Massachusetts 02115, USA.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

BMC Med Genet. 2011 Jun 28;12(1):87. [Epub ahead of print].

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

Program in Genomics, Division of Genetics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. peter.kang@childrens.harvard.edu.

A clinician's guide to X-linked hypophosphatemia.

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.

Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA. Thomas.carpenter@yale.edu.

2010 publications

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

The mouse retina as an angiogenesis model.

Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2813-26.

Stahl A, Connor KM, Sapieha P, Chen J, Dennison RJ, Krah NM, Seaward MR, Willett KL, Aderman CM, Guerin KI, Hua J, Löfqvist C, Hellström A, Smith LE. 

Department of Ophthalmology, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

PPARγ mediates a direct anti-angiogenic effect of ω3-PUFAs in proliferative retinopathy.

Circulation Research. 2010. Aug 20;107(4):495-500.

Stahl A, Sapieha P, Connor KM, SanGiovanni JP, Chen J, Aderman CM, Willett KL, Krah NM, Dennison RJ, Seaward MR, Guerin KI, Hua J, Smith LE.

Department of Ophthalmology, Harvard Medical School, Children's Hospital, Boston, Mass. 02115, USA.

Clinical genetic testing for patients with autism spectrum disorders.

Pediatr. 125: 727-735, 2010.  2010 Apr; Epub 2010 Mar 15.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Autism Consortium, Boston, Massachusetts, USA.

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

Blood2010;116:5867-74.

Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S.

A. Nocivelli Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, Brescia, Italy.

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.

J Exp Med 2010;207:1541-54.

Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD.

Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

An aqueous Hpermeation pathway in the voltage-gated proton channel, Hv1.

Nature Structural and Molecular Biology, 17, 869-875.

Ramsey, IS, Mokrab, Y, Carvacho, I, Sands, ZA, Sansom, MSP, Clapham, DE. 

Howard Hughes Medical Institute, Department of Cardiology and Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts, USA. isramsey@vcu.edu.

Clinical and immunological outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Blood. 2010 Apr 7. [Epub ahead of print]

Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulffraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T.
Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, Ghent, Belgium.

TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation.
Cell. 2010 Apr 16;141(2):331-43.

Cheng X, Jin J, Hu L, Shen D, Dong XP, Samie MA, Knoff J, Eisinger B, Liu ML, Huang SM, Caterina MJ, Dempsey P, Michael LE, Dlugosz AA, Andrews NC, Clapham DE, Xu H.
The Department of Molecular, Cellular, and Developmental Biology, the University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, MI 48109, USA.

The apical complex couples cell fate and cell survival to cerebral cortical development.
Neuron. 2010 Apr 15;66(1):69-84.

Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA.
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Developmental and degenerative features in a complicated spastic paraplegia.
Ann Neurol. 2010 Apr;67(4):516-25.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA.
Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
Biosci Rep. 2010 Apr 15;30(5):319-30.

Tischfield MA, Engle EC.
Department of Neurology and Ophthalmology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA, USA.

AID for Reprogramming.
Cell Res. 2010 Mar;20(3):253-5.

Agarwal S, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature. 2010 Mar 11;464(7286):292-6. Epub 2010 Feb 17.

Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Human genetic disorders of axon guidance.
Cold Spring Harbor Perspect. Biol.. 2010 Mar;2(3):a001784.

Engle EC
Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Boston Children's Hospital, Massachusetts 02115-5737, USA.

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
Am J Pathol. 2010 Mar;176(3):1104-12. Epub 2010 Jan 21

Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, Peterson P, Facchetti F
Department of Pathology, University of Brescia, P.le Spedali Civili 1, 25123, Brescia, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Mutations in PKNP cause microcephaly, seizures, and defects in DNA repair.
Nat Genet. 2010 Mar;42(3):245-9.Epub 2010 Jan 31.

Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA.
Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center and Program in Neuroscience, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Am J Hum Genet. 2010 Feb 12;86(2):222-228. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.
Division of Genetics and Program in Genomics,, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Primary Immunodeficiencies.
J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29.

Notarangelo LD.
Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

HOXA1 mutations are not a common cause of Möbius syndrome.
J AAPOS. 2010 Feb;14(1):78-80.

Rankin JK, Andrews C, Chan WM, Engle EC.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Proc Natl Acad SCI USA. 2010 Feb 16;107(7):3024-9. Epub 2010 Feb 1

Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT.
Division of Immunology and Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Defect in regulatory T cells in patients with Omenn syndrome.
J Allergy Clin Immunol. 2010 Jan; 125(1)209-16.

Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R
Fondazione Humanitas per la Ricerca, Rozzano (MI), Italy, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Stem cells: roadmap to the clinic.
J Clin Invest. 2010 Jan; 120(1):8-10. doi: 10.1172/JCI41801

Daley GQ
Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Autologous blood cell therapies from pluripotent stem cells.
Blood Rev. 2010 Jan;24(1):27-37.Epub 2009 Nov 11.

Lengerke C, Daley GQ
Division of Hematology and Oncology, University of Tuebingen Medical Center II, 72076 Tuebingen, Germany, Howard Hughes Medical Institute, Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
Am J Med Genet. 2010 Jan;152A(1):215-7.

Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell. 2010 Jan 8;140(1):74-87.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

May 2010 - August 2010

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Brain Dev. 2010 Aug;32(7):550-5. Epub 2009 Sep 13.

Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02215, USA.

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Am J Med Gen B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47.

Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Boston Children's Hospital Genotype Phenotype Study Group.
Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

Targeted cytosolic delivery of cell-impermeable compounds by nanoparticle-mediated, light-triggered endosome disruption.

Nano Letters, 2010 Jun 9;10(6):2211-9.

Febvay, S, Marini, DM, Belcher, AM, and Clapham, DE.

Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

Clump passaging and expansion of human embryonic and induced pluripotent stem cells on mouse embryonic fibroblast feeder cells.

Curr Protoc Stem Cell Biol. 2010 Aug;Chapter 1:Unit 1C.10.

Hartung O, Huo H, Daley GQ, Schlaeger TM.

Stem Cell Program, Boston Children's Hospital, Boston, Massachusetts, USA.

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia.

Nat Med. 2010 Aug;16(8):903-8. Epub 2010 Jul 8.

Kharas MG, Lengner CJ, Al-Shahrour F, Bullinger L, Ball B, Zaidi S, Morgan K, Tam W, Paktinat M, Okabe R, Gozo M, Einhorn W, Lane SW, Scholl C, Fröhling S, Fleming M, Ebert BL, Gilliland DG, Jaenisch R, Daley GQ.

Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA. mkharas@partners.org.

Reprogramming of T cells from human peripheral blood.

Cell Stem Cell. 2010 Jul 2;7(1):15-9.

Loh YH, Hartung O, Li H, Guo C, Sahalie JM, Manos PD, Urbach A, Heffner GC, Grskovic M, Vigneault F, Lensch MW, Park IH, Agarwal S, Church GM, Collins JJ, Irion S, Daley GQ.

Division of Pediatric Hematology Oncology, Department of Biological Chemistry and Molecular Pharmacology, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.

All-trans retinoic acid directs urothelial specification of murine embryonic stem cells via GATA4/6 signaling mechanisms.

PLoSOne. 2010 Jul 13;5(7):e11513.

Mauney JR, Ramachandran A, Yu RN, Daley GQ, Adam RM, Estrada CR.

Urological Diseases Research Center, Boston Children's Hospital, Boston, Massachusetts, USA.

Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies.

Nat Genet. 2010 Jul;42(7):626-30. Epub 2010 May 30.

Zhu H, Shah S, Shyh-Chang N, Shinoda G, Einhorn WS, Viswanathan SR, Takeuchi A, Grasemann C, Rinn JL, Lopez MF, Hirschhorn JN, Palmert MR, Daley GQ. 

Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Development. 2010 Jun;137(11):1907-17.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.

Division of Genetics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Howard Hughes Medical Institute, Beth Israel-Deaconess Medical Center, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

Targeted cytosolic delivery of cell-impermeable compounds by nanoparticle-mediated, light-triggered endosome disruption.
Nano Lett. 2010 Jun 9;10(6):2211-9. Epub 2009 Nov 26.

Febvay S, Marini DM, Belcher AM, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

Mutations and Polymorphisms of the sckeletal muscle α-Actin gene (ACTA1).
Human Mutation. 2010 Jun;30(9).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
Development. 2010 Jun;137(11):1907-17.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.
Division of Genetics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Howard Hughes Medical Institute, Beth Israel-Deaconess Medical Center, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

Functional muscle analysis of the Tcap knockout mouse.
Hum Mol Genet. 2010 Jun 1;19(11):2268-83. Epub 2010 Mar 16.

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK.
Department of Neurology, Wake Forest University, Winston-Salem, NC 27101, USA.

Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Clin Chem. 2010 May;56(5):772-80. Epub 2010 Mar 26.

Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT.
The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Altered myofilament function depresses force generation in Patients with nebulin-based nemaline myopathy (nem2).
J Struct Biol. 2010 May;170(2):334-43. Epub 2009 Nov 26.

Ottenheijm CA, Hooijman P, Dechene ET, Stienen GJ, Beggs AH, Granzier H.
Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam 1081 BT, The Netherlands; Department of Physiology, University of Arizona, Tucson, AZ 85724, USA.

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
Immunol Allergy Clin North Am. 2010 May;30(2):179-94.

Pai SY, Notarangelo LD.
Division of Hematology-Oncology, Boston Children's Hospital, Karp Family Research Laboratories, 8th Floor, Room 8214, 1 Blackfan Circle, Boston, MA 02115, USA.

Indications for hemopoietic stem cell transplanation.
Immunol Allergy Clin North Am. 2010 May;30(2):261-2.

Roifman CM, Fischer A, Notarangelo LD, de la Morena MT, Seger RA.
Division of Immunology & Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
Cell Stem Cell. 2010 May 7;6(5):407-11.

Urbach A, Bar-Nur O, Daley GQ, Benvenisty N.
Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Children's Hospital, Boston, MA, USA.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research at Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. beggs@enders.tch.harvard.edu.

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Hum Mutat. 2010 Dec;31(12):1269-79.

Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I.

Department of Medical Sciences, and IRCAD Università del Piemonte Orientale A. Avogadro, Alessandria, Novara, Vercelli, Italy.

Current progress in the mammalian TRP ion channel family.

Pharmacol Rev. 2010 Sep;62(3):381-404.

Wu LJ, Sweet TB, Clapham DE.

International Union of Basic and Clinical Pharmacology. LXXVI.

Molecular basis of the first cell fate determination in mouse embryogenesis.

Cell Res. 2010 Sep;20(9):982-93. Epub 2010 Jul 13.

Chen L, Wang D, Wu Z, Ma L, Daley GQ.

Ministry of Education Key Laboratory of Bioactive Materials, College of Life Sciences, Nankai University, 94 Weijin Road, Tianjin 300071, China. lingyichen@nankai.edu.cn.

Comprehensive methylome map of lineage commitment from haematopoietic progenitors.

Nature. 2010 Sep 16;467(7313):338-42. Epub 2010 Aug 15.

Ji H, Ehrlich LI, Seita J, Murakami P, Doi A, Lindau P, Lee H, Aryee MJ, Irizarry RA, Kim K, Rossi DJ, Inlay MA, Serwold T, Karsunky H, Ho L, Daley GQ, Weissman IL, Feinberg AP.

Center for Epigenetics and Department of Medicine, Johns Hopkins University School of Medicine, 570 Rangos, 725 N. Wolfe St., Baltimore, Maryland 21205, USA.

Epigenetic memory in induced pluripotent stem cells.

Nature. 2010 Sep 16;467(7313):285-90.

Kim K, Doi A, Wen B, Ng K, Zhao R, Cahan P, Kim J, Aryee MJ, Ji H, Ehrlich LI, Yabuuchi A, Takeuchi A, Cunniff KC, Hongguang H, McKinney-Freeman S, Naveiras O,

Yoon TJ, Irizarry RA, Jung N, Seita J, Hanna J, Murakami P, Jaenisch R, Weissleder R, Orkin SH, Weissman IL, Feinberg AP, Daley GQ.

Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA.

Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells.

Nat Genet. 2010 Dec;42(12):1113-7. Epub 2010 Nov 7.

Loewer S, Cabili MN, Guttman M, Loh YH, Thomas K, Park IH, Garber M, Curran M, Onder T, Agarwal S, Manos PD, Datta S, Lander ES, Schlaeger TM, Daley GQ, Rinn JL.

Stem Cell Transplantation Program, Division of Pediatric Hematology and Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts, USA.

Dynamic instability of genomic methylation patterns in pluripotent stem cells.

Epigenetics Chromatin. 2010 Sep 24;3(1):17.

Ooi SK, Wolf D, Hartung O, Agarwal S, Daley GQ, Goff SP, Bestor TH.

Department of Genetics and Development, Columbia University, New York, USA. thb12@columbia.edu.

Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies.

J Allergy Clin Immunol. 2010 Dec 23. [Epub ahead of print]

Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Talpiot Medical Leadership Program, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.

Cell Stem Cell. 2010 Nov 5;7(5):618-30. Epub 2010 Sep 30.

Warren L, Manos PD, Ahfeldt T, Loh YH, Li H, Lau F, Ebina W, Mandal PK, Smith ZD, Meissner A, Daley GQ, Brack AS, Collins JJ, Cowan C, Schlaeger TM, Rossi DJ.

Immune Disease Institute, Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA.

Magnetic resonance imaging evidence of an asymmetrical endophenotype in congenital fibrosis of the extraocular muscles type 3 resulting from TUBB3 mutations.

IOVS. 2010 Sep;51(9):4600-11. Epub 2010 Apr 14.

Demer JL, Clark RA, Tischfield MA, Engle EC.

Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA. jld@ucla.edu.

Allelic diversity in human developmental neurogenetics: insights into biology and disease.

Neuron. 2010 Oct 21;68(2):245-53.

Walsh CA, Engle EC.

Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. christopher.walsh@childrens.harvard.edu.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Mol Vis. 2010 Oct 13;16:2062-70.

Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K.

Department of Ophthalmology, Medical College of Qingdao University, the Affiliated Hospital of Medical College Qingdao University, Qingdao, Shandong Province, China. yangxian_70@yahoo.com.cn.

Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome.

Curr Opin Hematol.2010 Nov 11. [Epub ahead of print]

Albert MH, Notarangelo LD, Ochs HD.

Department of Pediatric Hematology/Oncology, Dr von Haunersches Kinderspital der Ludwig-Maximilians-Universität, Munich, Germany bThe Manton Center for Orphan Disease Research and the Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA cDepartment of Pediatrics, University of Washington, and Seattle Children's Research Institute, Center for Immunity and Immunotherapy, Seattle, Washington, USA.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Am J Hum Genet. 2010 Nov 12;87(5):694-700. Epub 2010 Oct 28.

Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A,     Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L.

Tel Aviv University, Israel.

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Am J Med Genet A. 2010 Nov;152A(11):2736-42.

Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Am J Hum Genet. 2010 Dec 10;87(6):882-9. Epub 2010 Nov 25.

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al- Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA.

Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Department of Medicine, Boston Children's Hospital, MA 02115, USA.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Nat Genet. 2010 Nov;42(11):1015-20.

Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, BarryBJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA.

Division of Genetics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

J Dev Behav Pediatr. 2010 Oct;31(8):649-57.

Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.

Program in Genomics and Division of Genetics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA

2009 publications

The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence.
Neuromuscular Disorders. 2009 Mar;19(3):179-81. Epub 2009 Feb 15.

Lehtokari VL, Greenleaf RS, Dechene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Primary immunodeficiencies (PIDs) presenting with cytopenia.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD
Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Essential role for TRPC5 in amygdala function and fear-related behavior.
Cell. 2009 May 15;137(4):761-72.

Riccio A, Li Y, Moon J, Kim KS, Smith KS, Rudolph U, Gapon S, Yao GL, Tsvetkov E, Rodig SJ, Van't Veer A, Meloni EG, Carlezon WA Jr, Bolshakov VY, Clapham DE
Department of Cardiology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Generation of induced pluripotent stem cells from human blood.
Blood. 2009 May 28;113(22):5476-9. Epub 2009 Mar 18.

Loh YH, Agarwal S, Park IH, Urbach A, Huo H, Heffner GC, Kim K, Miller JD, Ng K, Daley GQ.
Department of Medicine, Division of Pediatric Hematology Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

Hv1 proton channels are required for high-level NADPH oxidase-dependent superoxide production during the phagocyte respiratory burst.
Proc Natl Acad Sci USA. 2009 May 5;106(18):7642-7.

Ramsey IS, Ruchti E, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Neurobiology, Harvard Medical School, and Department of Cardiovascular Research, The Manton Center for Orphan Disease Research, Children's Hospital, 320 Longwood Avenue, Boston, MA 02115, USA.

Intracellular calcium strongly potentiates agonist-activated TRPC5 channels.
J Gen Physiol. 2009 May;133(5):525-46.

Blair NT, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Cardiology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.

Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.
Pediatr Res. 2009 May;65(5 Pt 2):3R-12R.

Pessach I, Walter J, Notarangelo LD.
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.
J Neurosci. 2009 May 6;29(18):5926-37.

Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M
The F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

Biomechanical forces promote embryonic haematopoiesis.
Nature. 2009 Jun 25;459(7250):1131-5. Epub 2009 May 13.

Adamo L, Naveiras O, Wenzel PL, McKinney-Freeman S, Mack PJ, Gracia-Sancho J, Suchy-Dicey A, Yoshimoto M, Lensch MW, Yoder MC, García-Cardeña G, Daley GQ.
Center for Excellence in Vascular Biology, Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
J APPOS. 2009 Jun;13(3):245-8.

Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC.
Department of Strabismus, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Muscle & Nerve. 2009 Jun;39(6):739-53.

Parker KC, Kong SW, Walsh RJ; Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA
Harvard-Partners Center for Genetics and Genomics, Proteomics Core, Harvard Medical School, and The Manton Center for Orphan Disease Research, Boston, Massachusetts USA.

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
Mol Immunol. 2009 Jun;46(10):2140-6. Epub 2009 May 5.

Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L.
Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.

Bone-marrow adipocytes as negative regulators of the haematopoietic microenvironment.
Nature. 2009 Jul 9;460(7252):259-63. Epub 2009 Jun 10.

Naveiras O, Nardi V, Wenzel PL, Hauschka PV, Fahey F, Daley GQ
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Massachusetts 02115, USA.

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Blood. 2009 Jul 2;114(1):105-8. Epub 2009 May 4.

Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, Notarangelo LD.,br> Department of Pathology, University of Brescia, Brescia, Italy.

Lin28 promotes transformation and is associated with advanced human malignancies.
Nat Genet. 2009 Jul;41(7):843-8. Epub 2009 May 31.

Viswanathan SR, Powers JT, Einhorn W, Hoshida Y, Ng TL, Toffanin S, O'Sullivan M, Lu J, Phillips LA, Lockhart VL, Shah SP, Tanwar PS, Mermel CH, Beroukhim R, Azam M, Teixeira J, Meyerson M, Hughes TP, Llovet JM, Radich J, Mullighan CG, Golub TR, Sorensen PH, Daley GQ.
Boston Children's Hospital, Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Harvard Stem Cell Institute, Boston, MA, USA.

microRNA expression during trophectoderm specification and blastocyst development.
PLoS One. 2009 Jul 3;4(7):e6143.

Viswanathan SR, Mermel CH, Lu J, Lu C-W, Golub TR, Daley GQ.
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Harvard Stem Cell Institute, Boston, MA, USA.

Surface antigen phenotypes of hematopoietic stem cells from embryos and murine embryonic stem cells.
Blood. 2009 Jul 9;114(2):268-78.

McKinney-Freeman SL, Naveiras O, Yates F, Loewer S, Philitas M, Curran M, Park PJ, Daley GQ
Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Stem Cell Transplantation Program, Children's Hospital, Boston, MA, United States.

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Hum Mol Gen. 2009 Jul 1;18(13):2359-69. Epub 2009 Apr 4.

Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H
Dept of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85724, USA, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

A role for Lin28 in primordial germ-cell development and germ-cell malignancy.
Nature. 2009 Aug 13;460(7257):909-13. Epub 2009 Jul 5.

West JA, Viswanathan SR, Yabuuchi A, Cunniff K, Takeuchi A, Park IH, Sero JE, Zhu H, Perez-Atayde A, Frazier AL, Surani MA, Daley GQ.
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and the Dana-Farber Cancer Institute, MA 02115, USA.

A single center experience in 20 patients with infantile malignant osteopetrosis.
Am J Hematology. 2009 Aug;84(8):473-9.

Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD.
Department of Pediatrics, University of Brescia, 25123 Brescia, Italy.

X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity.
J Autoimmun. 2009 Aug;33(1):17-24. Epub 2009 Apr 9.

Pessach IM, Notarangelo LD.
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA, USA.

Immunodeficiencies.
Clin Exp Immunol. 2009 Dec;158 Suppl 1:14-22.

Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL.
Women and Children's Hospital of Buffalo, State University of New York at Buffalo, Buffalo, NY 14222, USA

The Serotonin-Related FEV Gene Variant in the Sudden Infant Death Syndrome is a Common Polymorphism in the African-American Population.
Pediatr Res. 2009 Dec;66(6):631-5.

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH.
Department of Pathology [K.G.B., D.S.P., H.C.K.], Program in Genomics [M.A.B., I.A.H., K.M., A.H.B.], and The Manton Center for Orphan Disease Research [I.A.H., A.H.B.], Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115; Rady Children's Hospital and Health Center [E.A.H., H.F.K.], University of California, San Diego School of Medicine, San Diego, CA, 92123.

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12.

Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants.
Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA, Division of Immunology, Boston Children's Hospital, Boston, MA, USA.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Human Mutation. 2009 Dec 1

Lawlor MW, DeChene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH.
Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly.
Am J Hum Genet. 2009 Dec;85(6):897-902.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA.
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. Epub 2009 Oct 21.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.
Department of Neurobiology and Genetics, and Imaging Center-Electron Microscopy, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Université Louis Pasteur, Collège de France, 67404 Illkirch, France.

Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells.
Nat Biotechnol. 2009 Nov;27(11):1033-7. Epub 2009 Oct 11.

Chan EM, Ratanasirintrawoot S, Park IH, Manos PD, Loh YH, Huo H, Miller JD, Hartung O, Rho J, Ince TA, Daley GQ, Schlaeger TM.
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana-Farber Cancer Institute, Boston, Massachusetts, USA

Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. Epub 2009 Jul 2

Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM.
Genetics Division, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Depts. Neurology and Ophthalmology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC Genet. 2009 Oct 18;10:66.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM.
Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
J Allergy Clin Immunol. 2009 Oct 26. [Epub ahead of print]

Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S.
"Angelo Nocivelli" Institute for Molecular Medicine, University of Brescia, Italy; Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA

How I treat ADA deficiency.
Blood. 2009 Oct 22;114(17):3524-32. Epub 2009 Jul 28.

Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD
Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, United Kingdom

Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter.
Science. 2009 Oct 2;326(5949):144-7.

Jiang D, Zhao L, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Boston Children's Hospital, Manton Center for Orphan Disease, and Department of Neurobiology, Harvard Medical School, Enders Building 1309, 320 Longwood Avenue, Boston, MA 02115, USA.

Primary immunodeficiencies: increasing market share.
Curr Opin Immunol. 2009 Oct;21(5):461-5. Epub 2009 Sep 30.

Notarangelo LD, Casanova JL.
Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard University, Boston, MA, USA; Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University Hospital, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and Inserm, U550, Necker Medical School and Hospital, Paris F 75015, EU, France

Application of induced pluripotent stem cells to hematologic disease.
Cytotherapy. 2009;11(8):980-9.

Kim PG, Daley GQ.
Division of Pediatric Hematology Oncology, Children's Hospital, Boston, Massachusetts 02115, USA.

Primary immunodeficiencies (PIDs) presenting as cytopenias.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD.
Manton Center for Orphan Disease Research and Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.

2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th.
Immunol Res. 2009;44:1–3 DOI 10.1007/s12026-009-8110-0.

Notarangelo L, Day N, Fleisher T.
Department of Pediatrics and Pathology, Havard Med. School, The Manton Center for Orphan Disease Res., and Div. of Immunology, Children's Hosp. Boston, Boston, MA, 02115, USA.

Disease models from pluripotent stem cells.
Ann N Y Acad Sci. 2009 Sept:1176:191-6.

Lengerke C, Daley GQ.
Division of Hematology and Oncology, University of Tuebingen Medical Center II, Tuebingen, Germany.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain Dev. 2009 Sept 12 [Epub ahead of print].

Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS.
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development.
Proc Natl Acad Sci USA. 2009 Sept 15; 106(37):15750-5. Epub 2009 Aug 26.

Zhou H, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, and Harvard Medical School, 1309 Enders, 320 Longwood Avenue, Boston, MA 02115, USA.

2008 Publications