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769 results

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Page 1
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: murray jc. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Among authors: murray jc. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.
Non-invasive fetal genome sequencing: opportunities and challenges.
Tabor HK, Murray JC, Gammill HS, Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Rubens CE, Santillan MK, Eichler EE, Cheng EY, Bamshad MJ, Shendure J. Tabor HK, et al. Among authors: murray jc. Am J Med Genet A. 2012 Oct;158A(10):2382-4. doi: 10.1002/ajmg.a.35545. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887792 Free PMC article. No abstract available.
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Radhakrishna U, et al. Among authors: murray jc. J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826. J Med Genet. 2012. PMID: 22499347 Free PMC article.
Noninvasive whole-genome sequencing of a human fetus.
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Kitzman JO, et al. Among authors: murray jc. Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323. Sci Transl Med. 2012. PMID: 22674554 Free PMC article.
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
Robinson K, Parrish R, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Gowans LJ, Hecht JT, Moreno L, Murray JC, Shaw GM, Weinberg SM, Brand H, Marazita ML, Cutler DJ, Epstein MP, Yang J, Leslie EJ. Robinson K, et al. Among authors: murray jc. medRxiv [Preprint]. 2024 May 3:2024.05.01.24306701. doi: 10.1101/2024.05.01.24306701. medRxiv. 2024. PMID: 38746184 Free PMC article. Preprint.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Alade A, Peter T, Busch T, Awotoye W, Anand D, Abimbola O, Aladenika E, Olujitan M, Rysavy O, Nguyen PF, Naicker T, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Zeng E, Van Otterloo E, O'Rorke M, Adeyemo A, Murray JC, Lachke SA, Romitti PA, Butali A. Alade A, et al. Among authors: murray jc. Genet Epidemiol. 2024 Apr 18. doi: 10.1002/gepi.22564. Online ahead of print. Genet Epidemiol. 2024. PMID: 38634654
Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.
Alade A, Mossey P, Awotoye W, Busch T, Oladayo A, Aladenika E, Olujitan M, Gowans JJL, Eshete MA, Adeyemo WL, Zeng E, Otterloo E, O'Rorke M, Adeyemo A, Murray JC, Cotney J, Lachke SA, Romitti P, Butali A, Wentworth E, Anand D, Naicker T. Alade A, et al. Among authors: murray jc. Res Sq [Preprint]. 2024 Feb 27:rs.3.rs-3921355. doi: 10.21203/rs.3.rs-3921355/v1. Res Sq. 2024. PMID: 38464065 Free PMC article. Preprint.
769 results