Beggs Laboratory | Publications

Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2020. doi: 10.1002/ajmg.a.61926.

Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020; 23:559-565.

Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, et al: Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020; 87:568-583.

Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH: MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud 2019, 5.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, et al: Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 2018, 83:1105-1124.

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, 18:147-151.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, et al: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol 2015, 72:689-698.

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, 2:87-92.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, et al: Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014, 124:4693-4708.

Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH: Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol 2014, 71:1413-1420.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, et al: Novel mutations widen the phenotypic spectrum of slow skeletal/beta-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014, 35:868-879.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, et al: Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014, 35:1418-1426.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, et al: SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet 2014, 95:218-226.

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, et al: Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013, 81:1205-1214.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ: Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord 2013, 23:214-218.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, et al: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013, 93:6-18.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, et al: Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet 2013, 93:1108-1117.

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, et al: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 2012, 13:115-124.

Bohm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N,et al Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012, 33:949-959.

Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N: Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord 2012, 22:632-639.

Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, et al: Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet 2012, 91:365-371.

Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH: Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat 2010, 31:176-183.

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, et al: Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009, 30:1267-1277.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, et al: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet 2009, 10:66.

Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C: The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord 2009, 19:179-181.

Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH: Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007, 80:162-167.

den Dunnen JT, Beggs AH: Multiplex PCR for identifying DMD gene deletions. Curr Protoc Hum Genet 2006, Chapter 9:Unit 9 3.

Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, et al: Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005, 37:1207-1209.

Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG, Myopathy EICON: Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004, 14:461-470.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, et al Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004, 56:86-96.

Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG: Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003, 13:519-531.

Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH: Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 2002, 59:613-617.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, et al: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999, 23:208-212.

Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, et al: Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A 1999, 96:2305-2310.

Wallgren-Pettersson C, Pelin K, Hilpela P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, et al: Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord 1999, 9:564-572.

North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH: Congenital muscular dystrophy associated with merosin deficiency. J Child Neurol 1996, 11:291-295.

Arikawa-Hirasawa E, Koga R, Tsukahara T, Nonaka I, Mitsudome A, Goto K, Beggs AH, Arahata K: A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Neuromuscul Disord 1995, 5:429-438.

Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al: Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet 1992, 50:576-583.

Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991, 49:54-67.

Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990, 86:45-48.

Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM: Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology 1990, 40:808-812.

Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H, et al: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989, 45:498-506.

de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, et al: Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice. Hum Mol Genet. 2021 Apr 28.

Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, et al: A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021.

Rosen S.M., Joshi M., Hitt T., Beggs A.H., Agrawal P.B. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020; 29:1996-2003.

Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, et. al: ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020; 87:217-232.

Bachmann C, Noreen F, Voermans NC, Schar PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, et al: Aberrant regulation of epigenetic modifierscontributes to the pathogenesis in patients with selenoprotein N-relatedmyopathies.Hum Mutat 2019, 40:962-974.

Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, et al: SPEG-deficientskeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet 2018, 27:1608-1617.

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, et al: Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Ann Neurol 2018, 83:269-282.

Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM: An open source microcontroller based flumefor evaluating swimming performance of larval, juvenile, and adult zebrafish.PLoS One 2018, 13:e0199712.

Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM: Muscle dysfunction in a zebrafish model ofDuchenne muscular dystrophy. Physiol Genomics 2016, 48:850-860. 2015, 24:6278-6292.

Snead EC, Taylor SM, van der Kooij M, Cosford K, Beggs AH, Shelton GD: Clinical phenotype of X-linked myotubularmyopathy in Labrador Retriever puppies. J Vet Intern Med 2015, 29:254-260.

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, 5:1.

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

Sarwal A, Cartwright MS, Walker FO, Mitchell E, Buj-Bello A, Beggs AH, Childers MK: Ultrasound assessment of the diaphragm:Preliminary study of a canine model of X-linked myotubular myopathy. Muscle Nerve 2014, 50:607-609.

Goddard MA, Burlingame E, Beggs AH, Buj-Bello A, Childers MK, Marsh AP, Kelly VE: Gait characteristics in a canine model ofX-linked myotubular myopathy. J Neurol Sci 2014, 346:221-226.

Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, et al: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. Am J Pathol 2014, 184:1831-1842.

Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, et al: Tissue triage andfreezing for models of skeletal muscle disease. J Vis Exp 2014.

Smith LL, Gupta VA, Beggs AH: Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet 2014, 23:3566-3578.

Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, et al: Deleting exon55 from the nebulin gene induces severe muscle weakness in a mouse model fornemaline myopathy. Brain 2013, 136:1718-1731.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, et al: Loss ofcatalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet 2013, 9:e1003583.

Smith LL, Beggs AH, Gupta VA: Analysis ofskeletal muscle defects in larval zebrafish by birefringence and touch-evokeescape response assays. J Vis Exp 2013:e50925.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH: Selenoprotein N deficiency inmice is associated with abnormal lung development. FASEB J 2013, 27:1585-1599.

Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, et al: Myotubularin-deficientmyoblasts display increased apoptosis, delayed proliferation, and poor cellengraftment. Am J Pathol 2012, 181:961-968.

Grange RW, Doering J, Mitchell E, Holder MN, Guan X, Goddard M, Tegeler C, Beggs AH, Childers MK: Muscle function in a caninemodel of X-linked myotubular myopathy. Muscle Nerve 2012, 46:588-591.

Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH: Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 2012, 21:2341-2356.

Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, et al: Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet 2012, 21:811-825.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH:A splice site mutation in laminin-alpha2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One 2012, 7:e43794.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH: Changes in cross-bridge cycling underlie muscle weakness in patientswith tropomyosin 3-based myopathy. Hum Mol Genet 2011, 20:2015-2025.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH: The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet 2011, 20:1712-1725.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH: Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle 2011, 1:23.

Hnia K, Tronchere H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in humanand mouse skeletal muscle. J Clin Invest 2011, 121:70-85.

Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H: Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol 2010, 170:334-343.

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, et al: Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet 2010, 19:2268-2283.

Beggs AH, Bohm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, et al: MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 2010, 107:14697-14702.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, et al: T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009, 106:18763-18768.

Parker KC, Kong SW, Walsh RJ, Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, et al: Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle Nerve 2009, 39:739-753.

Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H: Thin filament length dysregulation contributes to muscle weakness innemaline myopathy patients with nebulin deficiency. Hum Mol Genet 2009, 18:2359-2369.

Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, et al: Distinctivepatterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 2007, 104:17016-17021.

Walsh RJ, Kong SW, Yao Y, Jallal B, Kiener PA, Pinkus JL, Beggs AH, Amato AA, Greenberg SA: Type Iinterferon-inducible gene expression in blood is present and reflects diseaseactivity in dermatomyositis and polymyositis. Arthritis Rheum 2007, 56:3784-3792.

Sanoudou D, Corbett MA, Han M, Ghoddusi M, Nguyen MA, Vlahovich N, Hardeman EC, Beggs AH: Skeletal muscle repair in a mousemodel of nemaline myopathy. Hum Mol Genet 2006, 15:2603-2612.

Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G: Adult-onset nemaline myopathy andmonoclonal gammopathy. Arch Neurol 2006, 63:132-134.

Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM: The influence of muscle typeand dystrophin deficiency on murine expression profiles. Mamm Genome 2005, 16:739-748.

Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH: Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis 2004, 15:590-600.

Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M: Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.J Child Neurol 2003, 18:235-240.

Bonnemann CG, Thompson TG, van der Ven PF, Goebel HH, Warlo I, Vollmers B, Reimann J, Herms J, Gautel M, Takada F, et al: Filamin C accumulation is a strong but nonspecific immunohistochemical marker of coreformation in muscle. J Neurol Sci 2003, 206:71-78.

Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, et al: Clinicalcourse correlates poorly with muscle pathology in nemaline myopathy. Neurology 2003, 60:665-673.

Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM: Gene expression profiling of Duchennemuscular dystrophy skeletal muscle. Neurogenetics 2003, 4:163-171.

Sanoudou D, Haslett JN, Kho AT, Guo S, Gazda HT, Greenberg SA, Lidov HG, Kohane IS, Kunkel LM, Beggs AH: Expressionprofiling reveals altered satellite cell numbers and glycolytic enzymetranscription in nemaline myopathy muscle. Proc Natl Acad Sci U S A 2003, 100:4666-4671.

Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA: Molecular profiles of inflammatorymyopathies. Neurology 2002, 59:1170-1182.

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, et al: Telethoninprotein expression in neuromuscular disorders. Biochim Biophys Acta 2002, 1588:33-40.

Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM: Gene expression comparison ofbiopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A 2002, 99:15000-15005.

Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, et al: Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 Aug 23.

Lloyd A, Aggio D, Slocomb TL, Lee J, Beggs AH, Bilder D. Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2021 Jul 6. doi: 10.3233/JND-210686. Epub ahead of print.

Sacks NC, Healey BE, Cyr PL, Slocomb T, James E, Beggs AH, Graham RJ. Costs and health resource use in patients with X-linked myotubular myopathy: insights from U.S. commercial claims. J Manag Care Spec Pharm. 2021 Apr 12:1-8.

Silwal A, Sarkozy A, Scoto M, Ridout D, Schmidt A, Laverty A, Henriques M, D'Argenzio L, Main M, Mein R, Manzur AY, Abel F, Al-Ghamdi F, Genetti CA, Ardicli D, Haliloglu G, Topaloglu H, Beggs AH Muntoni F. Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Ann Clin Transl Neurol. 2020. doi: 10.1002/acn3.51218

Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, et al: Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, et al: Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child 2019.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, et al: A multicenter, retrospective medical record review of X-linked myotubularmyopathy: The RECENSUS study. Muscle Nerve 2018, 57:550-560.

Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ: A natural history study of X-linked myotubular myopathy. Neurology 2017, 89:1355-1364.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, et al: Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014, 24:97-116.

Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J: Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet 2012, 20.

Pierson CR, Agrawal PB, Blasko J, Beggs AH: Myofibersize correlates with MTM1 mutation type and outcome in X-linked myotubularmyopathy. Neuromuscul Disord 2007, 17:562-568.

Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH: X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005, 64:555-564.

Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN: Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001, 50:312-320.

Sanoudou D, Beggs AH: Clinical and geneticheterogeneity in nemaline myopathy — a disease of skeletal muscle thin filaments. Trends Mol Med 2001, 7:362-368.

DeChene ET, Kang PB, Beggs AH: Congenital Fiber-Type Disproportion. In GeneReviews((R)). Edited by Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Seattle (WA); 1993

Beggs AH, Agrawal PB: Multiminicore Disease. In GeneReviews((R)). Edited by Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Seattle (WA); 1993

Our ultimate goal in the Beggs Laboratory is to discover and develop therapies to treat the various muscle and other diseases we are studying. Our development of faithful animal models and new knowledge of the genetic basis for these diseases has allowed us to understand the mechanisms leading to weakness (i.e., the “pathophysiology”), and this is now leading to development and testing of novel treatments for some of these conditions. Some recent exciting advances include the development of gene replacement therapy for XLMTM (now in clinical trials), and the recent approval and use of a novel oligonucleotide therapy personalized for a mutation in a single girl with Batten’s disease. Other areas of investigation have included tests of protein replacement therapy in XLMTM, myostatin inhibition therapy in XLMTM and nemaline myopathy, troponin activators in nemaline myopathy, and use of zebrafish and cellular models to screen for therapeutic drugs in SELENON-myopathy, RYR1-myopathy, and Diamond Blackfan anemia.

Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, et al:. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021 Sep 4.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, et al: Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med 2019.

Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM: Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis 2019, 6:271-287.

Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, et al: Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle Nerve 2017, 56:943-953.

Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, et al: Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Sci Transl Med 2017, 9.

Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, et al: Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathyin Dogs. Mol Ther 2017, 25:839-854.

Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, et al: Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol 2016, 186:1568-1581.

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, 3:257.

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, 5:12.

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Daniele N, et al: Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med 2014, 6:220ra210.

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H: Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet 2013, 50:383-392.

Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, et al: Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet 2013, 22:1525-1538.

Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, et al: Myotubularmyopathy and the neuromuscular junction: a novel therapeutic approach frommouse models. Dis Model Mech 2012, 5:852-859.

Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH: Inhibition of activin receptor type IIB increases strength and lifespanin myotubularin-deficient mice. Am J Pathol 2011, 178:784-793.

Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, et al: AAV-mediatedintramuscular delivery of myotubularin corrects the myotubular myopathyphenotype in targeted murine muscle and suggests a function in plasma membranehomeostasis. Hum Mol Genet 2008, 17:2132-2143.

The development of next generation sequencing methods, capable of sequencing a person’s entire genome in just a few days or weeks, is revolutionizing our ability to discover and detect genetic mutations in rare diseases. By combining genome sequencing results with cutting edge bioinformatics tools to analyze the medical records of large groups of patients, we are able to screen for and detect diseases at birth, make new disease gene discoveries, and short circuit the diagnostic odyssey experienced by many patients with rare diseases.

Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC; BabySeq Project Team, et al: Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2021 Jul 26. doi: 10.1002/jgc4.1475. Epub ahead of print.

Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, et al: AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Sci Transl Med. 2020; 12(544).

Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, et al: Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020; 22:449.

Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, et al: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med 2019.

Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, et al: Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet 2019, 27:1398-1405.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, et al: Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med 2019, 21:622-630.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, et al: ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med 2019, 21:1585-1593.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, et al: Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet 2019, 104:76-93.

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA, BabySeq Project G: Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics 2019, 143:S27-S32.

Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH, BabySeq Project T: Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics 2019, 143:S37-S43.

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, et al: Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics 2019, 143:S6-S13.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, et al: The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr 2018, 18:225.

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, 19:809-818.

Berg JS, Agrawal PB, Bailey DB, Jr., Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, et al: Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics 2017, 139.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, et al: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 2017, 9.

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, 11:e0153597.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, et al: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014, 15:R53.

Nimgaonkar A, Sanoudou D, Butte AJ, Haslett JN, Kunkel LM, Beggs AH, Kohane IS: Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics 2003, 4:27.

Guo Y, Cao Y, Jardin BD, Sethi I, Ma Q, Moghadaszadeh B, Troiano EC, Mazumdar N, Trembley MA, Small EM, Yuan GC, Beggs AH, Pu WT. Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proc Natl Acad Sci U S A. 118(2).

de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, et al: KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020; 130:754-767

Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, et al: The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell 2019, 49:10-29.

Hsu CP, Moghadaszadeh B, Hartwig JH, Beggs AH: Sarcomeric and nonmuscle alpha-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines. Cytoskeleton 2018, 75:213-228.

Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, et al: RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. PLoS Genet 2018, 14:e1007226.

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

Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH: alpha-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by alpha-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J 2012, 26:1892-1908.

Ziane R, Huang H, Moghadaszadeh B, Beggs AH, Levesque G, Chahine M: Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry 2010, 49:166-178.

Hiroi Y, Guo Z, Li Y, Beggs AH, Liao JK:Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin. FASEB J 2008, 22:1450-1457.

Moghadaszadeh B, Beggs AH: Selenoproteins and their impact on human health through diverse physiological pathways. Physiology 2006, 21:307-315.

Cerletti M, Molloy MJ, Tomczak KK, Yoon S, Ramoni MF, Kho AT, Beggs AH, Gussoni E:Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci 2006, 119:3117-3127.

Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM: Variations in gene expression among different types of human skeletal muscle. Muscle Nerve 2005, 32:483-491.

Liadaki K, Kho AT, Sanoudou D, Schienda J, Flint A, Beggs AH, Kohane IS, Kunkel LM: Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. Exp Cell Res 2005, 303:360-374.

Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH: Transcriptional profile of postmortem skeletal muscle. Physiol Genomics 2004, 16:222-228.

Tomczak KK, Marinescu VD, Ramoni MF, Sanoudou D, Montanaro F, Han M, Kunkel LM, Kohane IS, Beggs AH: Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J 2004, 18:403-405.

Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K: ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003, 73:627-631.

Zanoteli E, Lotuffo RM, Oliveira AS, Beggs AH, Canovas M, Zatz M, Vainzof M:Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. J Mol Neurosci 2003, 20:39-42.

Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K:Differential expression of the actin-binding proteins, alpha-actin in-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 2001, 10:1335-1346.

Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A 2001, 98:1595-1600.

Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM: Genomic organization and single-nucleotide polymorphism map ofdesmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet 2001, 2:8.

Hance JE, Fu SY, Watkins SC, Beggs AH, Michalak M: Alpha-actinin-2 is a new component of the dystrophin-glycoproteincomplex. Arch Biochem Biophys 1999, 365:216-222.

Rossignol M, Beggs AH, Pierce EA, Klagsbrun M: Humanneuropilin-1 and neuropilin-2 map to 10p12 and 2q34, respectively. Genomics 1999, 57:459-460.

North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH:A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet 1999, 21:353-354.

Chan Y, Tong HQ, Beggs AH, Kunkel LM: Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun 1998, 248:134-139.

Wyszynski M, Kharazia V, Shanghvi R, Rao A, Beggs AH, Craig AM, Weinberg R, Sheng M: Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain. J Neurosci 1998, 18:1383-1392.

Wyszynski M, Lin J, Rao A, Nigh E, Beggs AH, Craig AM, Sheng M: Competitive binding of alpha-actinin and calmodulin to the NMDAreceptor. Nature 1997, 385:439-442.

Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, Beggs AH, Zatz M: Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropediatrics 1997, 28:223-228.

Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF: The mouse region syntenic for human spinalmuscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics 1996, 38:405-417.

Byers TJ, Beggs AH, McNally EM, Kunkel LM: Novelactin crosslinker superfamily member identified by a two step degenerate PCRprocedure. FEBS Lett 1995, 368:500-504.

Azim AC, Knoll JH, Beggs AH, Chishti AH: Isoformcloning, actin binding, and chromosomal localization of human erythroiddematin, a member of the villin superfamily. J Biol Chem 1995, 270:17407-17413.

Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 1992, 267:9281-9288.

Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG: A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics 1992, 13:1314-1315.

Boyce FM, Beggs AH, Feener C, Kunkel LM: Dystrophinis transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A 1991, 88:1276-1280.

Beggs AH, Kunkel LM: A polymorphic CACA repeatin the 3' untranslated region of dystrophin. Nucleic Acids Res 1990, 18:1931.

Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, et al: Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 Aug 5.

Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, et al: Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 Mar 16;23(3):e21023. doi: 10.2196/21023.

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, et al: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 Mar 3. doi: 10.1038/s41436-021-01114-z. Epub ahead of print.

Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, et al: RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 Feb 17. doi: 10.1038/s41380-021-01035-y. Epub ahead of print.

Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB: Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet 2019, 62:137-143.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, et al: De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep 2018, 16:23-29.

Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, et al: De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet 2018, 19:197.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, et al: TheGenetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 2018, 103:930-947.

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, et al: Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud 2018, 4.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, et al: Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen inTwo Individuals. JIMD Rep 2018, 39:45-54.

Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB: Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet 2017, 26:3545-3552.

Mehta P, Kuspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, et al: Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve 2017, 55:761-765.

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, 3:a001560.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, et al: A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud 2016, 2:a001008.

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, 64:77-79.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, et al: Overlapping16p13.11 deletion and gain of copies variations associated with childhood onsetpsychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A 2016, 170A:1165-1173.

Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, et al: Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics 2016, 17:11-16.

Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT: Development of Soft TissueSarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. J Cancer 2016, 7:32-36.

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, 100:1723-1730.

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, et al: A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet 2014, 22:1229-1232.

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, et al: Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med 2014, 20:748-753.

Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, et al: Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet 2013, 132:1265-1274.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, et al: Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities — support for the role of K(ATP) channels in this condition. Eur J Med Genet 2013, 56:678-682.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, et al: Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012, 91:541-547.

Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, et al: Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum Mutat 2012, 33:1037-1044.

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT: Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 2012, 122:2439-2443.

Payne EM, Bolli N, Rhodes J, Abdel-Wahab OI, Levine R, Hedvat CV, Stone R, Khanna-Gupta A, Sun H, Kanki JP, et al: Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood 2011, 118:903-915.

Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, et al: Theribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat 2010, 31:1269-1279.

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH: Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res 2009, 66:631-635.

Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC, Jr., Meltzer P, Esposito D, Beggs AH, et al: Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008, 112:1582-1592.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, et al: Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008, 83:769-780.

Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH: Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 2006, 24:2034-2044.

Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, Chadwick AE, Krous HF, Kinney HC: Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA 2006, 296:2124-2132.

Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, et al: Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006, 79:1110-1118.

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 2005, 102:8089-8096; discussion 8086-8088.

Barnes CM, Huang S, Kaipainen A, Sanoudou D, Chen EJ, Eichler GS, Guo Y, Yu Y, Ingber DE, Mulliken JB, et al: Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A 2005, 102:19097-19102.

Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, et al: RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol 2004, 127:105-113.

Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT:Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002, 297:1333-1336.

Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, et al: Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103:89-95.

Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, et al: Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 andfor non-19q non-8p disease. Blood 2001, 97:2145-2150.

Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR: Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000, 24:251-256.

Wattanasirichaigoon D, Vesely MR, Duggal P, Levine JC, Blume ED, Wolff GS, Edwards SB, Beggs AH: Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet 1999, 86:470-476.

Satler CA, Vesely MR, Duggal P, Ginsburg GS, Beggs AH: Multiple different missense mutations in the pore region of HERG inpatients with long QT syndrome. Hum Genet 1998, 102:265-272.

Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH: Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation 1998, 97:142-146.

Wattanasirichaigoon D, Beggs AH: Molecular genetics of long-QT syndrome. Curr Opin Pediatr 1998, 10:628-634.

Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC: Congenital fibrosis of the extra ocularmuscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet 1998, 63:517-525.

Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH: A gene for isolated congenital ptosis maps to a 3-cM region within1p32-p34.1. Am J Hum Genet 1997, 60:1150-1157.

Engle EC, Kunkel LM, Specht LA, Beggs AH: Mappinga gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet 1994, 7:69-73.