Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: SLC4A11: 1391G>A; Gly464Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Molecular Vision

Kodaganur, Srinivas Gopinath SG; Kapoor, Saketh S; Veerappa, Avinash M AM; Tontanahal, Sagar Jagannath SJ; Sarda, Astha A; Yathish, S S; Prakash, D Ravi DR; Kumar, Arun A

Publication Date: 2013

Variant appearance in text: FECD4: 1391G>A

PubMed Link: 23922488

Variant Present in the following documents:

• Main text
• mv-v19-1694.pdf

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Genetics of the corneal endothelial dystrophies: an evidence-based review.

Clinical Genetics

Aldave, A J AJ; Han, J J; Frausto, R F RF

Publication Date: 2013-08

Variant appearance in text: SLC4A11: 1391G>A

PubMed Link: 23662738

Variant Present in the following documents:

• Main text

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: SLC4A11: 1391G>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

Molecular Vision

Kumar, Arun A; Bhattacharjee, Soma S; Prakash, Durgappa Ravi DR; Sadanand, Chethan Sitarampur CS

Publication Date: 2007-01-16

Variant appearance in text: CHED2: 1391G>A

PubMed Link: 17262014

Variant Present in the following documents:

• Main text
• mv-v13-39.pdf

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