Publications:

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Human Genetics

Smits, Jeroen J JJ; de Bruijn, Suzanne E SE; Lanting, Cornelis P CP; Oostrik, Jaap J; O'Gorman, Luke L; Mantere, Tuomo T; , ; Cremers, Frans P M FPM; Roosing, Susanne S; Yntema, Helger G HG; de Vrieze, Erik E; Derks, Ronny R; Hoischen, Alexander A; Pegge, Sjoert A H SAH; Neveling, Kornelia K; Pennings, Ronald J E RJE; Kremer, Hannie H

Publication Date: 2022-04

Variant appearance in text: EPHA2: 1896G>A

PubMed Link: 34410491

Variant Present in the following documents:

• 439_2021_Article_2336.pdf

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: EPHA2: L632L

PubMed Link: 29267365

Variant Present in the following documents:

• Main text
• pone.0189881.pdf
• pone.0189881.s004.xlsx, sheet 1

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EPHA2 is associated with age-related cortical cataract in mice and humans.

Plos Genetics

Jun, Gyungah G; Guo, Hong H; Klein, Barbara E K BE; Klein, Ronald R; Wang, Jie Jin JJ; Mitchell, Paul P; Miao, Hui H; Lee, Kristine E KE; Joshi, Tripti T; Buck, Matthias M; Chugha, Preeti P; Bardenstein, David D; Klein, Alison P AP; Bailey-Wilson, Joan E JE; Gong, Xiaohua X; Spector, Tim D TD; Andrew, Toby T; Hammond, Christopher J CJ; Elston, Robert C RC; Iyengar, Sudha K SK; Wang, Bingcheng B

Publication Date: 2009-07

Variant appearance in text: EPHA2: Leu632Leu; rs55655135

PubMed Link: 19649315

Variant Present in the following documents:

• Main text
• pgen.1000584.pdf

View BVdb publication page