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Insights into genetics, human biology and disease gleaned from family based genomic studies.
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics. Posey JE, et al. Among authors: hamosh a. Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Genet Med. 2019. PMID: 30655598 Free PMC article. Review.
Online Mendelian Inheritance in Man (OMIM).
Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. Hum Mutat. 2000;15(1):57-61. doi: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10612823
Hydroxocobalamin dose escalation improves metabolic control in cblC.
Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Carrillo-Carrasco N, et al. Among authors: hamosh a. J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821145 Free PMC article.
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA; Centers for Mendelian Genomics. Bamshad MJ, et al. Among authors: hamosh a. Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628075 Free PMC article.
139 results