@article{acc8eadea63d429288918571853f6d18,
title = "Rare A2ML1 variants confer susceptibility to otitis media",
abstract = "A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.",
author = "Santos-Cortez, {Regie Lyn P.} and Chiong, {Charlotte M.} and Reyes-Quintos, {Ma Rina T.} and Tantoco, {Ma Leah C.} and Xin Wang and Anushree Acharya and Izoduwa Abbe and Giese, {Arnaud P.} and Smith, {Joshua D.} and Allen, {E. Kaitlynn} and Biao Li and {Cutiongco-De La Paz}, {Eva Maria} and Garcia, {Marieflor Cristy} and Llanes, {Erasmo Gonzalo D.V.} and Labra, {Patrick John} and Gloria-Cruz, {Teresa Luisa I.} and Chan, {Abner L.} and Wang, {Gao T.} and Daly, {Kathleen A.} and Jay Shendure and Bamshad, {Michael J.} and Nickerson, {Deborah A.} and Patel, {Janak A.} and Saima Riazuddin and Sale, {Michele M.} and Tasnee Chonmaitree and Ahmed, {Zubair M.} and Abes, {Generoso T.} and Leal, {Suzanne M.}",
note = "Publisher Copyright: {\textcopyright} 2015 Nature America, Inc.",
year = "2015",
month = aug,
day = "30",
doi = "10.1038/ng.3347",
language = "English (US)",
volume = "47",
pages = "917--920",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Research",
number = "8",
}