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Germline variant profiling of CHEK2 sequencing variants in breast cancer patients.
McCarthy-Leo C, Baughan S, Dlugas H, Abraham P, Gibbons J, Baldwin C, Chung S, Feldman GL, Dyson G, Finley RL Jr, Tainsky MA. McCarthy-Leo C, et al. Among authors: feldman gl. Cancer Genet. 2024 Nov;288-289:10-19. doi: 10.1016/j.cancergen.2024.08.081. Epub 2024 Aug 23. Cancer Genet. 2024. PMID: 39208550
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative. Bentler K, et al. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. Mol Genet Metab. 2016. PMID: 27477829 Free PMC article.
The Current State of Newborn Screening in the United States.
Fabie NAV, Pappas KB, Feldman GL. Fabie NAV, et al. Among authors: feldman gl. Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007. Pediatr Clin North Am. 2019. PMID: 30819343 Review.
Recommendations for the integration of genomics into clinical practice.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Bowdin S, et al. Among authors: feldman gl. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Genet Med. 2016. PMID: 27171546 Free PMC article. Review.
116 results