Publications:

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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: 625C>T; Arg209Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.

Frontiers In Cellular Neuroscience

Eintracht, Jonathan J; Toms, Maria M; Moosajee, Mariya M

Publication Date: 2020

Variant appearance in text: SLC4A11: 625C>T

PubMed Link: 32973457

Variant Present in the following documents:

• Main text
• fncel-14-00265.pdf

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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

Investigative Ophthalmology & Visual Science

Brejchova, Kristyna K; Dudakova, Lubica L; Skalicka, Pavlina P; Dobrovolny, Robert R; Masek, Petr P; Putzova, Martina M; Moosajee, Mariya M; Tuft, Stephen J SJ; Davidson, Alice E AE; Liskova, Petra P

Publication Date: 2019-07-01

Variant appearance in text: SLC4A11: 625C>T; Arg209Trp

PubMed Link: 31323090

Variant Present in the following documents:

• Main text
• i1552-5783-60-8-3084.pdf

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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: 625C>T

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: 625C>T

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: 625C>T

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

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