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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: raby ba. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness.
Himes BE, Qiu W, Klanderman B, Ziniti J, Senter-Sylvia J, Szefler SJ, Lemanske RF Jr, Zeiger RS, Strunk RC, Martinez FD, Boushey H, Chinchilli VM, Israel E, Mauger D, Koppelman GH, Nieuwenhuis MA, Postma DS, Vonk JM, Rafaels N, Hansel NN, Barnes K, Raby B, Tantisira KG, Weiss ST. Himes BE, et al. BMC Med Genet. 2013 Aug 28;14:86. doi: 10.1186/1471-2350-14-86. BMC Med Genet. 2013. PMID: 23984888 Free PMC article.
Folliculin mutations are not associated with severe COPD.
Cho MH, Klanderman BJ, Litonjua AA, Sparrow D, Silverman EK, Raby BA. Cho MH, et al. Among authors: raby ba. BMC Med Genet. 2008 Dec 30;9:120. doi: 10.1186/1471-2350-9-120. BMC Med Genet. 2008. PMID: 19116017 Free PMC article.
Pulmonary function and emphysema in Williams-Beuren syndrome.
Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK. Wan ES, et al. Among authors: raby ba. Am J Med Genet A. 2010 Mar;152A(3):653-6. doi: 10.1002/ajmg.a.33300. Am J Med Genet A. 2010. PMID: 20186780 Free PMC article.
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Murphy A, Chu JH, Xu M, Carey VJ, Lazarus R, Liu A, Szefler SJ, Strunk R, Demuth K, Castro M, Hansel NN, Diette GB, Vonakis BM, Adkinson NF Jr, Klanderman BJ, Senter-Sylvia J, Ziniti J, Lange C, Pastinen T, Raby BA. Murphy A, et al. Among authors: raby ba. Hum Mol Genet. 2010 Dec 1;19(23):4745-57. doi: 10.1093/hmg/ddq392. Epub 2010 Sep 10. Hum Mol Genet. 2010. PMID: 20833654 Free PMC article.
Resequencing candidate genes implicates rare variants in asthma susceptibility.
Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C. Torgerson DG, et al. Among authors: raby ba. Am J Hum Genet. 2012 Feb 10;90(2):273-81. doi: 10.1016/j.ajhg.2012.01.008. Am J Hum Genet. 2012. PMID: 22325360 Free PMC article.
240 results