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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
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. French CE, et al. Among authors: d gama am. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Genome Sequencing After Exome Sequencing in Pediatric Epilepsy.
D'Gama AM, Shao W, Smith L, Koh HY, Davis M, Koh J, Oby BT, Urzua CI, Sheidley BR, Rockowitz S, Poduri A. D'Gama AM, et al. JAMA Neurol. 2024 Dec 1;81(12):1316-1318. doi: 10.1001/jamaneurol.2024.3582. JAMA Neurol. 2024. PMID: 39432277
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.
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. Akula SK, et al. Among authors: d gama am. Ann Clin Transl Neurol. 2024 Jun;11(6):1643-1647. doi: 10.1002/acn3.52055. Epub 2024 May 6. Ann Clin Transl Neurol. 2024. PMID: 38711225 Free PMC article.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
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. AlMail A, et al. Among authors: d gama am. NPJ Genom Med. 2024 Apr 6;9(1):27. doi: 10.1038/s41525-024-00408-w. NPJ Genom Med. 2024. PMID: 38582909 Free PMC article.
45 results