2025

D'Gama AM*, Phillips HW*, Wang Y*, Chiu MY, Chahine Y, Swanson AC, Smith RS, Pearl PL, Tsuboyama M, Madsen JR, Lidov H, Lee EA, Prabhu SP, Huang AY*, Stone SSD*, Walsh CA*, Poduri A*. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Brain Commun. 2025;7(2):fcaf113. Epub 20250317. doi: 10.1093/braincomms/fcaf113. PubMed PMID: 40177531; PMCID: PMC11961356. [PubMed]

Howell KB, White SM, McTague A, D'Gama AM, Costain G, Poduri A, Scheffer IE, Chau V, Smith LD, Stephenson SEM, Wojcik M, Davidson A, Sebire N, Sliz P, Beggs AH, Chitty LS, Cohn RD, Marshall CR, Andrews NC, North KN, Cross JH, Christodoulou J*, Scherer SW*. International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. NPJ Genom Med. 2025;10(1):13. Epub 20250227. doi: 10.1038/s41525-025-00474-8. PubMed PMID: 40016282; PMCID: PMC11868529. [PubMed]

Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basuz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025. Epub 20250123. doi: 10.1016/j.ajhg.2025.01.001. PubMed PMID: 39879987. [PubMed]

Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025;104(1):e210106. Epub 20241219. doi: 10.1212/WNL.0000000000210106. PubMed PMID: 39700446. [PubMed]

2024

Duyzend M*, Sud M*, D'Gama AM, Poorvu T, Estroff J, Wojcik MH. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024. Epub 20241205. doi: 10.1002/pd.6710. PubMed PMID: 39638574. [PubMed]

French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024;9(1):60. Epub 20241202. doi: 10.1038/s41525-024-00441-9. PubMed PMID: 39622807; PMCID: PMC11612168. [PubMed]

D'Gama AM, Shao W, Smith L, Koh HY, Davis M, Koh J, Oby BT, Urzua CI, Sheidley BR, Rockowitz S, Poduri A. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. JAMA Neurol. 2024;81(12):1316-8. doi: 10.1001/jamaneurol.2024.3582. PubMed PMID: 39432277; PMCID: PMC11494465. [PubMed]

D'Gama AM*, Wojcik MH*, Hills S, Douglas J, VIGOR Network, Yu TW, Agrawal PB, Parker MG. "It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs. Genet Med. 2024:101177. Epub 2024/06/10. doi: 10.1016/j.gim.2024.101177. PubMed PMID: 38855852. [PubMed]

Akula SK*, Quiroz V*, D'Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024. Epub 2024/05/07. doi: 10.1002/acn3.52055. PubMed PMID: 38711225. [PubMed]

AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K, IPCHiP Executive Committee, Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genom Med. 2024;9(1):27. Epub 2024/04/07. doi: 10.1038/s41525-024-00408-w. PubMed PMID: 38582909; PMCID: PMC10998895. [PubMed]

D'Souza EE*, Findley TO*, Hu R*, Khazal ZSH, Signorello R, Dash C, D'Gama AM, Feldman HA, Agrawal PB, Wojcik MH, Morton SU. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024. Epub 2024/03/19. doi: 10.1038/s41372-024-01935-1. PubMed PMID: 38499751. [PubMed]

D'Gama AM*, Hills S*, Douglas J, Young V, Genetti CA, Wojcik MH, Feldman HA, VIGOR Network, Yu TW, Parker MG*, Agrawal PB*. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024;14(2):e080529. Epub 2024/02/07. doi: 10.1136/bmjopen-2023-080529. PubMed PMID: 38320840; PMCID: PMC10859977. [PubMed]

Phillips HW*, D'Gama AM*, Wang Y*, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang AY*, Poduri A*, Stone SS*, Walsh CA*. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024;10(1):e200117. Epub 2023/12/27. doi: 10.1212/NXG.0000000000200117. PubMed PMID: 38149038; PMCID: PMC10751024. [PubMed]

2023

D'Gama AM, Agrawal PB. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023;31(12):1357-63. Epub 2023/10/04. doi: 10.1038/s41431-023-01464-z. PubMed PMID: 37789085; PMCID: PMC10689757. [PubMed]

D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN, Gene-STEPS Study Group, IPCHiP Executive Committee, Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V*, Costain G*, Poduri A*, Howell KB*, McTague A*. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023;22(9):812-25. Epub 2023/08/19. doi: 10.1016/S1474-4422(23)00246-6. PubMed PMID: 37596007. [PubMed]

Koh HY*, Smith L*, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh J, Oby BT, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH, BCH Neurology Referral and Phenotyping Group. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023;6(7):e2324380. Epub 2023/07/20. doi: 10.1001/jamanetworkopen.2023.24380. PubMed PMID: 37471090; PMCID: PMC10359957. [PubMed]

D'Gama AM, Poduri A. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. Neurobiol Dis. 2023;181:106104. Epub 2023/03/28. doi: 10.1016/j.nbd.2023.106104. PubMed PMID: 36972791. [PubMed]

D'Gama AM, Agrawal PB. Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. J Perinatol. 2023:1-5. Epub 2023/02/12. doi: 10.1038/s41372-023-01630-7. PubMed PMID: 36774516; PMCID: PMC9918837. [PubMed]

Wojcik MH, D'Gama AM, Agrawal PB. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2023;43(2):248-52. Epub 2022/06/25. doi: 10.1038/s41372-022-01428-z. PubMed PMID: 35750755; PMCID: PMC9789202. [PubMed]

2022

D'Gama AM, Del Rosario MC, Bresnahan MA, Yu TW, Wojcik MH*, Agrawal PB*. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022;7(1):51. Epub 2022/09/07. doi: 10.1038/s41525-022-00326-9. PubMed PMID: 36064943; PMCID: PMC9441819. [PubMed]

2021

D'Gama AM. Somatic Mosaicism and Autism Spectrum Disorder. Genes (Basel). 2021;12(11). Epub 2021/11/28. doi: 10.3390/genes12111699. PubMed PMID: 34828306; PMCID: PMC8619103. [PubMed]

D'Gama AM, Poduri A. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021;18(3):1548-63. Epub 2021/10/06. doi: 10.1007/s13311-021-01122-6. PubMed PMID: 34608615; PMCID: PMC8608994. [PubMed]

Liu KX, Sethi RV, Pulsifer MB, D'Gama AM, LaVally B, Ebb DH, Tarbell NJ, Yock TI, MacDonald SM. Clinical outcomes of pediatric patients with autism spectrum disorder and other neurodevelopmental disorders and intracranial germ cell tumors. Pediatr Blood Cancer. 2021:e28935. Epub 2021/03/12. doi: 10.1002/pbc.28935. PubMed PMID: 33694260. [PubMed]

Rodin RE*, Dou Y*, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC, Brain Somatic Mosaicism Network, Park PJ*, Walsh CA*. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021;24(2):176-85. Epub 2021/01/13. doi: 10.1038/s41593-020-00765-6. PubMed PMID: 33432195; PMCID: PMC7983596. [PubMed]

D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021;185(1):203-7. Epub 2020/10/11. doi: 10.1002/ajmg.a.61910. PubMed PMID: 33037779; PMCID: PMC8388561. [PubMed]

2020

D'Gama AM*, Brucker WJ*, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020;182(4):780-4. Epub 2020/02/06. doi: 10.1002/ajmg.a.61498. PubMed PMID: 32022391. [PubMed]

2019

Edward HL*, D'Gama AM*, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019;179(7):1299-303. Epub 2019/04/24. doi: 10.1002/ajmg.a.61150. PubMed PMID: 31012281. [PubMed]

Fu C*, Luo S*, Zhang Y*, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB*, Li Q*, Chen S*. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019;489:103-8. Epub 2018/12/07. doi: 10.1016/j.cca.2018.11.035. PubMed PMID: 30508507. [PubMed]

Qualls AE, Donkervoort S, Herkert JC, D'Gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bonnemann CG, Agrawal PB. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019;59(3):357-62. Epub 2018/11/10. doi: 10.1002/mus.26378. PubMed PMID: 30412272; PMCID: PMC7288247. [PubMed]

2018

D'Gama AM, Walsh CA. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018;21(11):1504-14. Epub 2018/10/24. doi: 10.1038/s41593-018-0257-3. PubMed PMID: 30349109. [PubMed]

Fan X*, Xie B*, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB*, Li Q*, Shen Y*. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2018;16:15-9. Epub 2018/07/11. doi: 10.1016/j.ymgmr.2018.05.007. PubMed PMID: 29988809; PMCID: PMC6031868. [PubMed]

Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018;176(7):1627-31. Epub 2018/04/29. doi: 10.1002/ajmg.a.38720. PubMed PMID: 29704303; PMCID: PMC6117218. [PubMed]

Rodan LH*, Hauptman M*, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD*, Agrawal PB*. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018;124(2):161-7. Epub 2018/04/25. doi: 10.1016/j.ymgme.2018.04.002. PubMed PMID: 29685658; PMCID: PMC5976541. [PubMed]

2017

D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blumcke I, Poduri A, Walsh CA. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017;21(13):3754-66. Epub 2017/12/28. doi: 10.1016/j.celrep.2017.11.106. PubMed PMID: 29281825; PMCID: PMC5752134. [PubMed]

Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017;75:91-5. Epub 2017/08/26. doi: 10.1016/j.pediatrneurol.2017.05.025. PubMed PMID: 28838622; PMCID: PMC5624791. [PubMed]

Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017;20(9):1217-24. Epub 2017/07/18. doi: 10.1038/nn.4598. PubMed PMID: 28714951; PMCID: PMC5672813. [PubMed]

Jamuar SS*, Schmitz-Abe K*, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017;49(4):606-12. Epub 2017/03/03. doi: 10.1038/ng.3804. PubMed PMID: 28250456; PMCID: PMC5374027. [PubMed]

2015

D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015;88(5):910-7. Epub 2015/12/08. doi: 10.1016/j.neuron.2015.11.009. PubMed PMID: 26637798; PMCID: PMC4672379. [PubMed]

Lodato MA*, Woodworth MB*, Lee S*, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, D'Gama AM, Cai X, Luquette LJ, Lee E, Park PJ*, Walsh CA*. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015;350(6256):94-8. Epub 2015/10/03. doi: 10.1126/science.aab1785. PubMed PMID: 26430121; PMCID: PMC4664477. [PubMed]

D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA*, Poduri A*. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77(4):720-5. Epub 2015/01/21. doi: 10.1002/ana.24357. PubMed PMID: 25599672; PMCID: PMC4471336. [PubMed]

BEFORE 2015

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014;371(8):733-43. Epub 2014/08/21. doi: 10.1056/NEJMoa1314432. PubMed PMID: 25140959; PMCID: PMC4274952. [PubMed]

Yu TW*, Chahrour MH*, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013;77(2):259-73. Epub 2013/01/29. doi: 10.1016/j.neuron.2012.11.002. PubMed PMID: 23352163; PMCID: PMC3694430. [PubMed]