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: COL4A5: 2918G>A; Gly973Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: 2918G>A; Gly973Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine

Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G

Publication Date: 2020

Variant appearance in text: COL4A5: 2918G>A; Gly973Asp

PubMed Link: 33330536

Variant Present in the following documents:

• Main text
• fmed-07-580376.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: COL4A5: G973D

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Journal Of The American Society Of Nephrology : Jasn

Morinière, Vincent V; Dahan, Karin K; Hilbert, Pascale P; Lison, Marieline M; Lebbah, Said S; Topa, Alexandra A; Bole-Feysot, Christine C; Pruvost, Solenn S; Nitschke, Patrick P; Plaisier, Emmanuelle E; Knebelmann, Bertrand B; Macher, Marie-Alice MA; Noel, Laure-Hélène LH; Gubler, Marie-Claire MC; Antignac, Corinne C; Heidet, Laurence L

Publication Date: 2014-12

Variant appearance in text: COL4A5: Gly973Asp

PubMed Link: 24854265

Variant Present in the following documents:

• Main text

View BVdb publication page