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Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM; Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream. Friedman JM, et al. Among authors: fernandez cv. Genet Med. 2019 Feb;21(2):498-504. doi: 10.1038/s41436-018-0055-z. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895853 Free PMC article.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Ghemlas I, et al. Among authors: fernandez cv. J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136524
Key Implications of Data Sharing in Pediatric Genomics.
Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM. Rahimzadeh V, et al. Among authors: fernandez cv. JAMA Pediatr. 2018 May 1;172(5):476-481. doi: 10.1001/jamapediatrics.2017.5500. JAMA Pediatr. 2018. PMID: 29554172
215 results