PUBLICATIONS

Miller TA, Avillach P, Mandl KD, Experiences implementing scalable, containerized, cloud-based NLP for extracting biobank participant phenotypes at scale, JAMIA Open, Volume 3, Issue 2, July 2020:85–189


Rockowitz, S., LeCompte, N., Carmack, M. et al. Children’s rare disease cohorts: an integrative research and clinical genomics initiative. npj Genom. Med. 5, 29 (2020).


Kong SW, Hernandez-Ferrer C. Assessment of coverage for endogenous metabolites and exogenous chemical compounds using an untargeted metabolomics platform. Pac Symp Biocomput. 2020;25:587-598.


Mengel, D., Liu, W., Glynn, R.J. et al. Dynamics of plasma biomarkers in Down syndrome: the relative levels of AB42 decrease with age, whereas NT1 tau and NfL increase. Alz Res Therapy 12, 27 (2020).


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.


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.


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].


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.


Coravos A, Khozin S, Mandl KD. Developing and adopting safe and effective digital biomarkers to improve patient outcomes. NPJ Digit Med. 2019;2(1).


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.


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.


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.


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.


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).


Mandl KD, Bourgeois FT. The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science. JAMA. Nov 21 2017;318(19):1859-1860.


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.


Helbig I, Lindhout D. Advancing the phenome alongside the genome in epilepsy studies. Neurology. Jul 4 2017;89(1):14-15.