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Page 1
Development of human protein reference database as an initial platform for approaching systems biology in humans.
Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, Surendranath V, Niranjan V, Muthusamy B, Gandhi TK, Gronborg M, Ibarrola N, Deshpande N, Shanker K, Shivashankar HN, Rashmi BP, Ramya MA, Zhao Z, Chandrika KN, Padma N, Harsha HC, Yatish AJ, Kavitha MP, Menezes M, Choudhury DR, Suresh S, Ghosh N, Saravana R, Chandran S, Krishna S, Joy M, Anand SK, Madavan V, Joseph A, Wong GW, Schiemann WP, Constantinescu SN, Huang L, Khosravi-Far R, Steen H, Tewari M, Ghaffari S, Blobe GC, Dang CV, Garcia JG, Pevsner J, Jensen ON, Roepstorff P, Deshpande KS, Chinnaiyan AM, Hamosh A, Chakravarti A, Pandey A. Peri S, et al. Among authors: hamosh a. Genome Res. 2003 Oct;13(10):2363-71. doi: 10.1101/gr.1680803. Genome Res. 2003. PMID: 14525934 Free PMC article.
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Armanios M, et al. Among authors: hamosh a. Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. doi: 10.1073/pnas.0508124102. Epub 2005 Oct 24. Proc Natl Acad Sci U S A. 2005. PMID: 16247010 Free PMC article.
Genomic analysis of partial 21q monosomies with variable phenotypes.
Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Roberson ED, et al. Among authors: hamosh a. Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8. Eur J Hum Genet. 2011. PMID: 20823914 Free PMC article.
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
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. Among authors: hamosh a. 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.
McKusick's Online Mendelian Inheritance in Man (OMIM).
Amberger J, Bocchini CA, Scott AF, Hamosh A. Amberger J, et al. Among authors: hamosh a. Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8. Nucleic Acids Res. 2009. PMID: 18842627 Free PMC article.
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. Among authors: hamosh a. 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.
139 results