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Page 1
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ. Caylor RC, et al. Among authors: welsh h. Neurogenetics. 2018 Aug;19(3):205-213. doi: 10.1007/s10048-018-0551-y. Epub 2018 Jun 20. Neurogenetics. 2018. PMID: 29926239
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ. Caylor RC, et al. Among authors: welsh h. Neurogenetics. 2018 Dec;19(4):261-262. doi: 10.1007/s10048-018-0554-8. Neurogenetics. 2018. PMID: 29992365
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Cohen ASA, et al. Among authors: welsh h. Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305867 Free article.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Zion TN, et al. Among authors: welsh h. Genet Med. 2023 May;25(5):100020. doi: 10.1016/j.gim.2023.100020. Epub 2023 Jan 28. Genet Med. 2023. PMID: 36718845 Free PMC article.
CDKN1C mutations and genital anomalies.
Welsh HI, Stockley TL, Parkinson N, Ardinger HH. Welsh HI, et al. Am J Med Genet A. 2012 Jan;158A(1):265. doi: 10.1002/ajmg.a.34388. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140035 No abstract available.
51 results