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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program; Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Kane MS, et al. Among authors: adams dr, adams c. Am J Hum Genet. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805780 Free PMC article.
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX; NISC Comparative Sequencing Program; Sergeev YV, Oetting WS, Pavan WJ, Adams DR. Loftus SK, et al. Among authors: adams dr. Am J Hum Genet. 2023 Jul 6;110(7):1123-1137. doi: 10.1016/j.ajhg.2023.05.012. Epub 2023 Jun 15. Am J Hum Genet. 2023. PMID: 37327787 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Oprescu SN, et al. Among authors: adams dr. Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14. Hum Mutat. 2017. PMID: 28675565 Free PMC article.
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.
Wang C, Brancusi F, Valivullah ZM, Anderson MG, Cunningham D, Hedberg-Buenz A, Power B, Simeonov D, Gahl WA, Zein WM, Adams DR, Brooks B. Wang C, et al. Among authors: adams dr. Ophthalmic Genet. 2018 Jan-Feb;39(1):41-45. doi: 10.1080/13816810.2017.1342134. Epub 2017 Jul 25. Ophthalmic Genet. 2018. PMID: 28742462 Free PMC article.
392 results