Precision Link Biobank | Overview
What is the Precision Link Biobank for Health Discovery?
The Precision Link Biobank for Health Discovery ("The Biobank") was created to provide a valuable library of human samples for researchers to advance our knowledge of health and disease. The Biobank holds health information and samples (such as blood, tissue, and cells) of thousands of patients and their families at Boston Children's Hospital. The Biobank is an initiative of the Computational Health Informatics Program (CHIP). Researchers wishing to use the Precision Link Biobank may visit biobank.childrens.harvard.edu.
Patients and their families can voluntarily donate samples and allow researchers to study these along with their health information. This allows researchers to conduct studies on a variety of diseases, conditions and disorders, and enables patients and families to engage and contribute to our research mission and improve the medical care we provide.
Why join the Biobank?
The Biobank allows patients and their families to directly contribute to research. For example, Biobank contributors have already helped our researchers discover:
- new factors that contribute to acute asthma severity
- which environmental exposures may be contributing to rising autism prevalence
- biomarkers that can help diagnose and assess patients with inflammatory bowel disease
- how Trisonomy 21 affects patients’ stature, growth and bone development
- how immune cells in our tonsils help us fight infection
- how people grow and early ways to diagnose excessive weight gain in children
Who can join?
All patients and their families at Boston Children’s Hospital can participate in the Biobank. Participation is always voluntary and participants can withdraw at any time. There are NO additional costs to you or your insurance company for participation in the study.
What happens if I decide to join the Biobank?
You will be asked to take 5 minutes to review and sign a document saying you would like to participate.
You will be asked to give permission for:
- the Biobank to collect and store samples that are no longer needed for clinical care
- researchers to study these samples along with information in your medical record
You and your child will also have the option to voluntarily contribute a sample of blood which can be added on to the next clinical blood draw at Boston Children’s.
What happens to my samples and information?
The samples and health information will be securely stored by the Biobank for Health Discovery at Boston Children’s.
Approved researchers can use the samples for a broad range of studies, such as:
- identification of biomarkers predicting clinical conditions
- examination of tissue under a microscope to better understand disease states
- creation of “cell lines” to model certain health conditions
- study of genes associated with specific diseases
How can I learn more?
Our team is ready to answer your questions. Please call us at 1-888-802-4453 or email us at BCHBiobank4Discovery@childrens.harvard.edu.
You may also fill out the form below to be connected with a team member who can provide more information about the initiative and how to sign up. By entering your contact information below, you are only agreeing to be contacted by the Biobank team. Someone from our team will reach out to you within 2 business days.
To learn more about Biobanking in general, click here to download our comic book.
Publications
Click below for a list of publications from researchers using the Biobank and CHIP Faculty.
- Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ, Bell DW, Haber DA. An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. Science. 2007 Feb 2;315(5812):642-5.
- Gleason BC, Liegl-Atzwanger B, Kozakewich HP, Connolly S, Gebhardt MC, Fletcher JA, Perez-Atayde AR. Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisal. Am J Surg Pathol. 2008 Mar;32(3):363-76.
- Aiden AP, Rivera MN, Rheinbay E, Ku M, Coffman EJ, Truong TT, Vargas SO, Lander ES, Haber DA, Bernstein BE. Wilms tumor chromatin profiles highlight stem cell properties and a renal developmental network. Cell Stem Cell. 2010 Jun 4;6(6):591-602.
- Feng H, Stachura DL, White RM, Gutierrez A, Zhang L, Sanda T, Jette CA, Testa JR, Neuberg DS, Langenau DM, Kutok JL, Zon LI, Traver D, Fleming MD, Kanki JP, Look AT. Cancer Cell. 2010 Oct 19;18(4):353-66.
- Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ. Recurrent BRAF mutations in Langerhans cell histiocytosis.Blood. 2010 Sep 16;116(11):1919-23.
- Mertens F, Möller E, Mandahl N, Picci P, Perez-Atayde AR, Samson I, Sciot R, Debiec-Rychter M. The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4. Int J Cancer. 2011 Jan 15;128(2):487-91.
- Mariño-Enríquez A, Ou WB, Weldon CB, Fletcher JA, Pérez-Atayde AR. ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. Genes Chromosomes Cancer. 2011 Mar;50(3):146-53.
- 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. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr;7(4):e1002050.
- Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011 Nov 6;43(12):1256-61.
- Kurek KC, Pansuriya TC, van Ruler MA, van den Akker B, Luks VL, Verbeke SL, Kozakewich HP, Sciot R, Lev D, Lazar AJ, Fletcher CD, Bovée JV. R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. Am J Pathol. 2013 May;182(5):1494-500.
- Maclellan RA, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg. 2014 Jan;133(1):12e-9e.
- Bandopadhayay P, Bergthold G, Nguyen B, Schubert S, Gholamin S, Tang Y, Bolin S, Schumacher SE, Zeid R, Masoud S, Yu F, Vue N, Gibson WJ, Paolella BR, Mitra SS, Cheshier SH, Qi J, Liu KW, Wechsler-Reya R, Weiss WA, Swartling FJ, Kieran MW, Bradner JE, Beroukhim R, Cho YJ. BET bromodomain inhibition of MYC-amplified medulloblastoma. Clin Cancer Res. 2014 Feb 15;20(4):912-25.
- Crompton BD, Stewart C, Taylor-Weiner A, Alexe G, Kurek KC, Calicchio ML, Kiezun A, Carter SL, Shukla SA, Mehta SS, Thorner AR, de Torres C, Lavarino C, Suñol M, McKenna A, Sivachenko A, Cibulskis K, Lawrence MS, Stojanov P, Rosenberg M, Ambrogio L, Auclair D, Seepo S, Blumenstiel B, DeFelice M, Imaz-Rosshandler I, Schwarz-Cruz Y Celis A, Rivera MN, Rodriguez-Galindo C, FlemingMD, Golub TR, Getz G, Mora J, Stegmaier K. The genomic landscape of pediatric Ewing sarcoma. Cancer Discov. 2014 Nov;4(11):1326-41.
- Bergthold G, Bandopadhayay P, Hoshida Y, Ramkissoon S, Ramkissoon L, Rich B, Maire CL, Paolella BR, Schumacher SE, Tabak B, Ferrer-Luna R, Ozek M, Sav A, Santagata S, Wen PY, Goumnerova LC, Ligon AH, Stiles C, Segal R, Golub T, Grill J, Ligon KL, Chan JA, Kieran MW, Beroukhim R. Expression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype. Neuro Oncol. 2015 Nov;17(11):1486-96.
- Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 Apr 7;98(4):789-95.
- Cajaiba MM, Jennings LJ, Rohan SM, Perez-Atayde AR, Marino-Enriquez A, Fletcher JA, Geller JI, Leuer KM, Bridge JA, Perlman EJ. ALK-rearranged renal cell carcinomas in children. Genes Chromosomes Cancer. 2016 May;55(5):442-51.
- Harris MH, DuBois SG, Glade Bender JL, Kim A, Crompton BD, Parker E, Dumont IP, Hong AL, Guo D, Church A, Stegmaier K, Roberts CWM, Shusterman S, London WB, MacConaill LE, Lindeman NI, Diller L, Rodriguez-Galindo C, Janeway KA. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study. JAMA Oncol. 2016 May 1;2(5):608-615. doi: 10.1001/jamaoncol.2015.5689.
- Hong AL, Tseng YY, Cowley GS, Jonas O, Cheah JH, Kynnap BD, Doshi MB, Oh C, Meyer SC, Church AJ, Gill S, Bielski CM, Keskula P, Imamovic A, Howell S, Kryukov GV, Clemons PA, Tsherniak A, Vazquez F, Crompton BD, Shamji AF, Rodriguez-Galindo C, Janeway KA, Roberts CW, Stegmaier K, van Hummelen P, Cima MJ, Langer RS, Garraway LA, Schreiber SL, Root DE, Hahn WC, Boehm JS. Integrated genetic and pharmacologic interrogation of rare cancers. Nat Commun. 2016 Jun 22;7:11987.
- Powers JT, Tsanov KM, Pearson DS, Roels F, Spina CS, Ebright R, Seligson M, de Soysa Y, Cahan P, Theißen J, Tu HC, Han A, Kurek KC, LaPier GS, Osborne JK, Ross SJ, Cesana M, Collins JJ, Berthold F, Daley GQ. Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. Nature. 2016 Jul 14;535(7611):246-51.
- Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE. Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 Nov 17;1(19):e87062. doi: 10.1172/jci.insight.87062.
- Alexandrescu S, Akhavanfard S, Harris MH, Vargas SO. Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation. Pediatr Dev Pathol. 2017 Mar-Apr;20(2):105-111.
- Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 1;19(7):986-996.
- Church AJ, Calicchio ML, Nardi V, Skalova A, Pinto A, Dillon DA, Gomez-Fernandez CR, Manoj N, Haimes JD, Stahl JA, Dela Cruz FS, Tannenbaum-Dvir S, Glade-Bender JL, Kung AL, DuBois SG, Kozakewich HP, Janeway KA, Perez-Atayde AR, Harris MH. Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy. Mod Pathol. 2018 Mar;31(3):463-473.
- Filbin MG, Tirosh I, Hovestadt V, Shaw ML, Escalante LE, Mathewson ND, Neftel C, Frank N, Pelton K, Hebert CM, Haberler C, Yizhak K, Gojo J, Egervari K, Mount C, van Galen P, Bonal DM, Nguyen QD, Beck A, Sinai C, Czech T, Dorfer C, Goumnerova L, Lavarino C, Carcaboso AM, Mora J, Mylvaganam R, Luo CC, Peyrl A, Popović M, Azizi A, Batchelor TT, Frosch MP, Martinez-Lage M, Kieran MW, Bandopadhayay P, Beroukhim R, Fritsch G, Getz G, Rozenblatt-Rosen O, Wucherpfennig KW, Louis DN, Monje M, Slavc I, Ligon KL, Golub TR, Regev A, Bernstein BE, Suvà ML. Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq. Science. 2018 Apr 20;360(6386):331-335.
- Pal S, Kozono D, Yang X, Fendler W, Fitts W, Ni J, Alberta JA, Zhao J, Liu KX, Bian J, Truffaux N, Weiss WA, Resnick AC, Bandopadhayay P, Ligon KL, DuBois SG, Mueller S, Chowdhury D, Haas-Kogan DA. Dual HDAC and PI3K Inhibition Abrogates NFκB- and FOXM1-Mediated DNA Damage Response to Radiosensitize Pediatric High-Grade Gliomas. Cancer Res. 2018 Jul 15;78(14):4007-4021.
- Hong AL, Tseng YY, Wala JA, Kim WJ, Kynnap BD, Doshi MB, Kugener G, Sandoval GJ, Howard TP, Li J, Yang X, Tillgren M, Ghandi M, Sayeed A, Deasy R, Ward A, McSteen B, Labella KM, Keskula P, Tracy A, Connor C, Clinton CM, Church AJ, Crompton BD, Janeway KA, Van Hare B, Sandak D, Gjoerup O, Bandopadhayay P, Clemons PA, Schreiber SL, Root DE, Gokhale PC, Chi SN, Mullen EA, Roberts CW, Kadoch C, Beroukhim R, Ligon KL, Boehm JS, Hahn WC. Renal medullary carcinomas depend upon SMARCB1 loss and are sensitive to proteasome inhibition. Elife. 2019 Mar 12;8. pii: e44161. doi: 10.7554/eLife.44161.
- Bandopadhayay P, Piccioni F, O'Rourke R, Ho P, Gonzalez EM, Buchan G, Qian K, Gionet G, Girard E, Coxon M, Rees MG, Brenan L, Dubois F, Shapira O, Greenwald NF, Pages M, Balboni Iniguez A, Paolella BR, Meng A, Sinai C, Roti G, Dharia NV, Creech A, Tanenbaum B, Khadka P, Tracy A, Tiv HL, Hong AL, Coy S, Rashid R, Lin JR, Cowley GS, Lam FC, Goodale A, Lee Y, Schoolcraft K, Vazquez F, Hahn WC, Tsherniak A, Bradner JE, Yaffe MB, Milde T, Pfister SM, Qi J, Schenone M, Carr SA, Ligon KL, Kieran MW, Santagata S, Olson JM, Gokhale PC, Jaffe JD, Root DE, Stegmaier K, Johannessen CM, Beroukhim R. Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma. Nat Commun. 2019 Jun 3;10(1):2400.
- Barclay SF, Inman KW, Luks VL, McIntyre JB, Al-Ibraheemi A, Church AJ, Perez-Atayde AR, Mangray S, Jeng M, Kreimer SR, Walker L, Fishman SJ, Alomari AI, Chaudry G, Trenor Iii CC, Adams D, Kozakewich HPW, Kurek KC. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. Genet Med. 2019 Jul;21(7):1517-1524.
Precision Link
1. Bourgeois FT, Avillach P, Kong SW, Heinz MM, Tran TA, Chakrabarty R, Bickel J, Sliz P, Borglund EM, Kornetsky S, Mandl KD. Development of the Precision Link Biobank at Boston Children's Hospital: Challenges and Opportunities. J Pers Med. Dec 15 2017;7(4).
2. Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. Dec 2018;20(12):1617-1626.
3. Coravos A, Khozin S, Mandl KD. Developing and adopting safe and effective digital biomarkers to improve patient outcomes. NPJ Digit Med. 2019;2(1).
4. Hwang KB, Lee IH, Li H, Won DG, Hernandez-Ferrer C, Negron JA, Kong SW. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. Sci Rep. Mar 1 2019;9(1):3219.
5. Mandl KD, Bourgeois FT. The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science. JAMA. Nov 21 2017;318(19):1859-1860.
6. Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. Apr 2018;83(4):703-717.
7. Collaborative E, Feng Y-CA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Singh T, Heyne H, Byrnes A, Churchhouse C, Lal D, Heinzen EL, Cavalleri GL, Hakonarson H, Helbig I, Krause R, May P, Weckhuysen S, Petrovski S, Kamalakaran S, Sisodiya SM, Cossette P, Cotsapas C, De Jonghe P, Dixon-Salazar T, Guerrini R, Kwan P, Marson AG, Stewart R, Depondt C, Dlugos DJ, Scheffer IE, Striano P, Freyer C, McKenna K, Regan BM, Bellows ST, Leu C, Bennett CA, Johns EMC, Macdonald A, Shilling H, Burgess R, Weckhuysen D, Bahlo M, O'Brien TJ, Todaro M, Stamberger H, Andrade DM, Sadoway TR, Mo K, Krestel H, Gallati S, Papacostas SS, Kousiappa I, Tanteles GA, Št?rbová K, Vl?ková M, Sedlá?ková L, Laššuthová P, Klein KM, Rosenow F, Reif PS, Knake S, Kunz WS, Zsurka G, Elger CE, Bauer J, Rademacher M, Pendziwiat M, Muhle H, Rademacher A, van Baalen A, von Spiczak S, Stephani U, Afawi Z, Korczyn AD, Kanaan M, Canavati C, Kurlemann G, Müller-Schlüter K, Kluger G, Häusler M, Blatt I, Lemke JR, Krey I, Weber YG, Wolking S, Becker F, Hengsbach C, Rau S, Maisch AF, Steinhoff BJ, Schulze-Bonhage A, Schubert-Bast S, Schreiber H, Borggräfe I, Schankin CJ, Mayer T, Korinthenberg R, Brockmann K, Kurlemann G, Dennig D, Madeleyn R, Kälviäinen R, Auvinen P, Saarela A, Linnankivi T, Lehesjoki A-E, Rees MI, Chung S-K, Pickrell WO, Powell R, Schneider N, Balestrini S, Zagaglia S, Braatz V, Johnson MR, Auce P, Sills GJ, Baum LW, Sham PC, Cherny SS, Lui CHT, Bariši? N, Delanty N, Doherty CP, Shukralla A, McCormack M, El-Naggar H, Canafoglia L, Franceschetti S, Castellotti B, Granata T, Zara F, Iacomino M, Madia F, Vari MS, Mancardi MM, Salpietro V, Bisulli F, Tinuper P, Licchetta L, Pippucci T, Stipa C, Minardi R, Gambardella A, Labate A, Annesi G, Manna L, Gagliardi M, Parrini E, Mei D, Vetro A, Bianchini C, Montomoli M, Doccini V, Marini C, Suzuki T, Inoue Y, Yamakawa K, Tumiene B, Sadleir LG, King C, Mountier E, Caglayan SH, Arslan M, Yap?c? Z, Yis U, Topaloglu P, Kara B, Turkdogan D, Gundogdu-Eken A, Bebek N, U?ur-??eri S, Baykan B, Salman B, Haryanyan G, Yücesan E, Kesim Y, Özkara Ç, Poduri A, Buono RJ, Ferraro TN, Sperling MR, Lo W, Privitera M, French JA, Schachter S, Kuzniecky RI, Devinsky O, Hegde M, Khankhanian P, Helbig KL, Ellis CA, Spalletta G, Piras F, Piras F, Gili T, Ciullo V, Reif A, McQuillin A, Bass N, McIntosh A, Blackwood D, Johnstone M, Palotie A, Pato MT, Pato CN, Bromet EJ, Carvalho CB, Achtyes ED, Azevedo MH, Kotov R, Lehrer DS, Malaspina D, Marder SR, Medeiros H, Morley CP, Perkins DO, Sobell JL, Buckley PF, Macciardi F, Rapaport MH, Knowles JA, , Fanous AH, McCarroll SA, Gupta N, Gabriel SB, Daly MJ, Lander ES, Lowenstein DH, Goldstein DB, Lerche H, Berkovic SF, Neale BM. Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. bioRxiv. 2019-01-01 00:00:00 2019.
8. Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Št?rbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG. A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy. American Journal of Human Genetics. 2019 [In Press].
9. Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. Jan 2017;140(1):49-67.
10. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal G, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. Mar 7 2019;104(3):562.
11. International League Against Epilepsy Consortium on Complex E. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun. Dec 10 2018;9(1):5269.
12. Epi25 Collaborative, Feng Y-CA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Singh T, Heyne H, Byrnes A, Churchhouse C, Lal D, Heinzen EL, Cavalleri GL, Hakonarson H, Helbig I, Krause R, May P, Weckhuysen S, Petrovski S, Kamalakaran S, Sisodiya SM, Cossette P, Cotsapas C, De Jonghe P, Dixon-Salazar T, Guerrini R, Kwan P, Marson AG, Stewart R, Depondt C, Dlugos DJ, Scheffer IE, Striano P, Freyer C, McKenna K, Regan BM, Bellows ST, Leu C, Bennett CA, Johns EMC, Macdonald A, Shilling H, Burgess R, Weckhuysen D, Bahlo M, O'Brien TJ, Todaro M, Stamberger H, Andrade DM, Sadoway TR, Mo K, Krestel H, Gallati S, Papacostas SS, Kousiappa I, Tanteles GA, Št?rbová K, Vl?ková M, Sedlá?ková L, Laššuthová P, Klein KM, Rosenow F, Reif PS, Knake S, Kunz WS, Zsurka G, Elger CE, Bauer J, Rademacher M, Pendziwiat M, Muhle H, Rademacher A, van Baalen A, von Spiczak S, Stephani U, Afawi Z, Korczyn AD, Kanaan M, Canavati C, Kurlemann G, Müller-Schlüter K, Kluger G, Häusler M, Blatt I, Lemke JR, Krey I, Weber YG, Wolking S, Becker F, Hengsbach C, Rau S, Maisch AF, Steinhoff BJ, Schulze-Bonhage A, Schubert-Bast S, Schreiber H, Borggräfe I, Schankin CJ, Mayer T, Korinthenberg R, Brockmann K, Kurlemann G, Dennig D, Madeleyn R, Kälviäinen R, Auvinen P, Saarela A, Linnankivi T, Lehesjoki A-E, Rees MI, Chung S-K, Pickrell WO, Powell R, Schneider N, Balestrini S, Zagaglia S, Braatz V, Johnson MR, Auce P, Sills GJ, Baum LW, Sham PC, Cherny SS, Lui CHT, Bariši? N, Delanty N, Doherty CP, Shukralla A, McCormack M, El-Naggar H, Canafoglia L, Franceschetti S, Castellotti B, Granata T, Zara F, Iacomino M, Madia F, Vari MS, Mancardi MM, Salpietro V, Bisulli F, Tinuper P, Licchetta L, Pippucci T, Stipa C, Minardi R, Gambardella A, Labate A, Annesi G, Manna L, Gagliardi M, Parrini E, Mei D, Vetro A, Bianchini C, Montomoli M, Doccini V, Marini C, Suzuki T, Inoue Y, Yamakawa K, Tumiene B, Sadleir LG, King C, Mountier E, Caglayan SH, Arslan M, Yap?c? Z, Yis U, Topaloglu P, Kara B, Turkdogan D, Gundogdu-Eken A, Bebek N, U?ur-??eri S, Baykan B, Salman B, Haryanyan G, Yücesan E, Kesim Y, Özkara Ç, Poduri A, Buono RJ, Ferraro TN, Sperling MR, Lo W, Privitera M, French JA, Schachter S, Kuzniecky RI, Devinsky O, Hegde M, Khankhanian P, Helbig KL, Ellis CA, Spalletta G, Piras F, Piras F, Gili T, Ciullo V, Reif A, McQuillin A, Bass N, McIntosh A, Blackwood D, Johnstone M, Palotie A, Pato MT, Pato CN, Bromet EJ, Carvalho CB, Achtyes ED, Azevedo MH, Kotov R, Lehrer DS, Malaspina D, Marder SR, Medeiros H, Morley CP, Perkins DO, Sobell JL, Buckley PF, Macciardi F, Rapaport MH, Knowles JA, , Fanous AH, McCarroll SA, Gupta N, Gabriel SB, Daly MJ, Lander ES, Lowenstein DH, Goldstein DB, Lerche H, Berkovic SF, Neale BM. Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. bioRxiv. 2019-01-01 00:00:00 2019.
13. Helbig I, Lindhout D. Advancing the phenome alongside the genome in epilepsy studies. Neurology. Jul 4 2017;89(1):14-15.
14. Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. Nov 2018;39(11):1476-1484.
2. Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. Dec 2018;20(12):1617-1626.
3. Coravos A, Khozin S, Mandl KD. Developing and adopting safe and effective digital biomarkers to improve patient outcomes. NPJ Digit Med. 2019;2(1).
4. Hwang KB, Lee IH, Li H, Won DG, Hernandez-Ferrer C, Negron JA, Kong SW. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. Sci Rep. Mar 1 2019;9(1):3219.
5. Mandl KD, Bourgeois FT. The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science. JAMA. Nov 21 2017;318(19):1859-1860.
6. Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. Apr 2018;83(4):703-717.
7. Collaborative E, Feng Y-CA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Singh T, Heyne H, Byrnes A, Churchhouse C, Lal D, Heinzen EL, Cavalleri GL, Hakonarson H, Helbig I, Krause R, May P, Weckhuysen S, Petrovski S, Kamalakaran S, Sisodiya SM, Cossette P, Cotsapas C, De Jonghe P, Dixon-Salazar T, Guerrini R, Kwan P, Marson AG, Stewart R, Depondt C, Dlugos DJ, Scheffer IE, Striano P, Freyer C, McKenna K, Regan BM, Bellows ST, Leu C, Bennett CA, Johns EMC, Macdonald A, Shilling H, Burgess R, Weckhuysen D, Bahlo M, O'Brien TJ, Todaro M, Stamberger H, Andrade DM, Sadoway TR, Mo K, Krestel H, Gallati S, Papacostas SS, Kousiappa I, Tanteles GA, Št?rbová K, Vl?ková M, Sedlá?ková L, Laššuthová P, Klein KM, Rosenow F, Reif PS, Knake S, Kunz WS, Zsurka G, Elger CE, Bauer J, Rademacher M, Pendziwiat M, Muhle H, Rademacher A, van Baalen A, von Spiczak S, Stephani U, Afawi Z, Korczyn AD, Kanaan M, Canavati C, Kurlemann G, Müller-Schlüter K, Kluger G, Häusler M, Blatt I, Lemke JR, Krey I, Weber YG, Wolking S, Becker F, Hengsbach C, Rau S, Maisch AF, Steinhoff BJ, Schulze-Bonhage A, Schubert-Bast S, Schreiber H, Borggräfe I, Schankin CJ, Mayer T, Korinthenberg R, Brockmann K, Kurlemann G, Dennig D, Madeleyn R, Kälviäinen R, Auvinen P, Saarela A, Linnankivi T, Lehesjoki A-E, Rees MI, Chung S-K, Pickrell WO, Powell R, Schneider N, Balestrini S, Zagaglia S, Braatz V, Johnson MR, Auce P, Sills GJ, Baum LW, Sham PC, Cherny SS, Lui CHT, Bariši? N, Delanty N, Doherty CP, Shukralla A, McCormack M, El-Naggar H, Canafoglia L, Franceschetti S, Castellotti B, Granata T, Zara F, Iacomino M, Madia F, Vari MS, Mancardi MM, Salpietro V, Bisulli F, Tinuper P, Licchetta L, Pippucci T, Stipa C, Minardi R, Gambardella A, Labate A, Annesi G, Manna L, Gagliardi M, Parrini E, Mei D, Vetro A, Bianchini C, Montomoli M, Doccini V, Marini C, Suzuki T, Inoue Y, Yamakawa K, Tumiene B, Sadleir LG, King C, Mountier E, Caglayan SH, Arslan M, Yap?c? Z, Yis U, Topaloglu P, Kara B, Turkdogan D, Gundogdu-Eken A, Bebek N, U?ur-??eri S, Baykan B, Salman B, Haryanyan G, Yücesan E, Kesim Y, Özkara Ç, Poduri A, Buono RJ, Ferraro TN, Sperling MR, Lo W, Privitera M, French JA, Schachter S, Kuzniecky RI, Devinsky O, Hegde M, Khankhanian P, Helbig KL, Ellis CA, Spalletta G, Piras F, Piras F, Gili T, Ciullo V, Reif A, McQuillin A, Bass N, McIntosh A, Blackwood D, Johnstone M, Palotie A, Pato MT, Pato CN, Bromet EJ, Carvalho CB, Achtyes ED, Azevedo MH, Kotov R, Lehrer DS, Malaspina D, Marder SR, Medeiros H, Morley CP, Perkins DO, Sobell JL, Buckley PF, Macciardi F, Rapaport MH, Knowles JA, , Fanous AH, McCarroll SA, Gupta N, Gabriel SB, Daly MJ, Lander ES, Lowenstein DH, Goldstein DB, Lerche H, Berkovic SF, Neale BM. Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. bioRxiv. 2019-01-01 00:00:00 2019.
8. Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Št?rbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG. A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy. American Journal of Human Genetics. 2019 [In Press].
9. Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. Jan 2017;140(1):49-67.
10. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal G, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. Mar 7 2019;104(3):562.
11. International League Against Epilepsy Consortium on Complex E. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun. Dec 10 2018;9(1):5269.
12. Epi25 Collaborative, Feng Y-CA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Singh T, Heyne H, Byrnes A, Churchhouse C, Lal D, Heinzen EL, Cavalleri GL, Hakonarson H, Helbig I, Krause R, May P, Weckhuysen S, Petrovski S, Kamalakaran S, Sisodiya SM, Cossette P, Cotsapas C, De Jonghe P, Dixon-Salazar T, Guerrini R, Kwan P, Marson AG, Stewart R, Depondt C, Dlugos DJ, Scheffer IE, Striano P, Freyer C, McKenna K, Regan BM, Bellows ST, Leu C, Bennett CA, Johns EMC, Macdonald A, Shilling H, Burgess R, Weckhuysen D, Bahlo M, O'Brien TJ, Todaro M, Stamberger H, Andrade DM, Sadoway TR, Mo K, Krestel H, Gallati S, Papacostas SS, Kousiappa I, Tanteles GA, Št?rbová K, Vl?ková M, Sedlá?ková L, Laššuthová P, Klein KM, Rosenow F, Reif PS, Knake S, Kunz WS, Zsurka G, Elger CE, Bauer J, Rademacher M, Pendziwiat M, Muhle H, Rademacher A, van Baalen A, von Spiczak S, Stephani U, Afawi Z, Korczyn AD, Kanaan M, Canavati C, Kurlemann G, Müller-Schlüter K, Kluger G, Häusler M, Blatt I, Lemke JR, Krey I, Weber YG, Wolking S, Becker F, Hengsbach C, Rau S, Maisch AF, Steinhoff BJ, Schulze-Bonhage A, Schubert-Bast S, Schreiber H, Borggräfe I, Schankin CJ, Mayer T, Korinthenberg R, Brockmann K, Kurlemann G, Dennig D, Madeleyn R, Kälviäinen R, Auvinen P, Saarela A, Linnankivi T, Lehesjoki A-E, Rees MI, Chung S-K, Pickrell WO, Powell R, Schneider N, Balestrini S, Zagaglia S, Braatz V, Johnson MR, Auce P, Sills GJ, Baum LW, Sham PC, Cherny SS, Lui CHT, Bariši? N, Delanty N, Doherty CP, Shukralla A, McCormack M, El-Naggar H, Canafoglia L, Franceschetti S, Castellotti B, Granata T, Zara F, Iacomino M, Madia F, Vari MS, Mancardi MM, Salpietro V, Bisulli F, Tinuper P, Licchetta L, Pippucci T, Stipa C, Minardi R, Gambardella A, Labate A, Annesi G, Manna L, Gagliardi M, Parrini E, Mei D, Vetro A, Bianchini C, Montomoli M, Doccini V, Marini C, Suzuki T, Inoue Y, Yamakawa K, Tumiene B, Sadleir LG, King C, Mountier E, Caglayan SH, Arslan M, Yap?c? Z, Yis U, Topaloglu P, Kara B, Turkdogan D, Gundogdu-Eken A, Bebek N, U?ur-??eri S, Baykan B, Salman B, Haryanyan G, Yücesan E, Kesim Y, Özkara Ç, Poduri A, Buono RJ, Ferraro TN, Sperling MR, Lo W, Privitera M, French JA, Schachter S, Kuzniecky RI, Devinsky O, Hegde M, Khankhanian P, Helbig KL, Ellis CA, Spalletta G, Piras F, Piras F, Gili T, Ciullo V, Reif A, McQuillin A, Bass N, McIntosh A, Blackwood D, Johnstone M, Palotie A, Pato MT, Pato CN, Bromet EJ, Carvalho CB, Achtyes ED, Azevedo MH, Kotov R, Lehrer DS, Malaspina D, Marder SR, Medeiros H, Morley CP, Perkins DO, Sobell JL, Buckley PF, Macciardi F, Rapaport MH, Knowles JA, , Fanous AH, McCarroll SA, Gupta N, Gabriel SB, Daly MJ, Lander ES, Lowenstein DH, Goldstein DB, Lerche H, Berkovic SF, Neale BM. Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. bioRxiv. 2019-01-01 00:00:00 2019.
13. Helbig I, Lindhout D. Advancing the phenome alongside the genome in epilepsy studies. Neurology. Jul 4 2017;89(1):14-15.
14. Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. Nov 2018;39(11):1476-1484.