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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Campbell J, Legare JM, Piatt J, Gough E, Pauli RM, Hashmi SS, Rodriguez-Buritica DF, Modaff P, Little ME, Serna ME, Smid CJ, Dujmusic L, Hecht JT, Hoover-Fong JE, Bober MB. Campbell J, et al. Among authors: hoover fong je. J Neurosurg Pediatr. 2023 Sep 15;32(6):649-656. doi: 10.3171/2023.7.PEDS2354. Print 2023 Dec 1. J Neurosurg Pediatr. 2023. PMID: 37877951
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.
Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, Cutting GR. Blackman SM, et al. Gastroenterology. 2006 Oct;131(4):1030-9. doi: 10.1053/j.gastro.2006.07.016. Epub 2006 Jul 24. Gastroenterology. 2006. PMID: 17030173 Free PMC article.
Heritability of lung disease severity in cystic fibrosis.
Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR. Vanscoy LL, et al. Am J Respir Crit Care Med. 2007 May 15;175(10):1036-43. doi: 10.1164/rccm.200608-1164OC. Epub 2007 Mar 1. Am J Respir Crit Care Med. 2007. PMID: 17332481 Free PMC article.
100 results