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: COL4A5: 1226G>A; Gly409Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 1226G>A; Gly409Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments.

Biomaterials

Yeo, Jingjie J; Qiu, Yimin Y; Jung, Gang Seob GS; Zhang, Yong-Wei YW; Buehler, Markus J MJ; Kaplan, David L DL

Publication Date: 2020-05

Variant appearance in text: COL4A5: G409D

PubMed Link: 32085975

Variant Present in the following documents:

• Main text

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: COL4A5: G409D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports

Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N

Publication Date: 2018-05

Variant appearance in text: COL4A5: 1226G>A; Gly409Asp

PubMed Link: 29854973

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: COL4A5: G409D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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