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Genetic basis of congenital cardiovascular malformations.
Lalani SR, Belmont JW. Lalani SR, et al. Among authors: belmont jw. Eur J Med Genet. 2014 Aug;57(8):402-13. doi: 10.1016/j.ejmg.2014.04.010. Epub 2014 Apr 30. Eur J Med Genet. 2014. PMID: 24793338 Free PMC article. Review.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Bekheirnia MR, et al. Among authors: belmont jw. Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657687 Free PMC article.
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B. Emrick LT, et al. Among authors: belmont jw. Genet Med. 2019 Jul;21(7):1652-1656. doi: 10.1038/s41436-018-0358-0. Epub 2018 Dec 20. Genet Med. 2019. PMID: 30568308 Free PMC article.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: belmont j. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
261 results