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: 4309C>G; Gln1437Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: COL4A5: Q1437E; rs143778018

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Type IV Collagen Mutations in Familial IgA Nephropathy.

Kidney International Reports

Li, Yifu Y; Groopman, Emily E EE; D'Agati, Vivette V; Prakash, Sindhuri S; Zhang, Junying J; Mizerska-Wasiak, Malgorzata M; Caliskan, Yasar Y; Fasel, David D; Karnib, Hussein H HH; Bono, Luisa L; Omran, Sadek Al SA; Sabban, Essam Al EA; Kiryluk, Krzysztof K; Caridi, Gianluca G; Ghiggeri, Gian Marco GM; Sanna-Cherchi, Simone S; Scolari, Francesco F; Gharavi, Ali G AG

Publication Date: 2020-07

Variant appearance in text: rs143778018

PubMed Link: 32647767

Variant Present in the following documents:

• mmc1.pdf

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Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Schapiro, David D; Daga, Ankana A; Lawson, Jennifer A JA; Majmundar, Amar J AJ; Lovric, Svjetlana S; Tan, Weizhen W; Warejko, Jillian K JK; Fessi, Inés I; Rao, Jia J; Airik, Merlin M; Gee, Heon Yung HY; Schneider, Ronen R; Widmeier, Eugen E; Hermle, Tobias T; Ashraf, Shazia S; Jobst-Schwan, Tilman T; van der Ven, Amelie T AT; Nakayama, Makiko M; Shril, Shirlee S; Braun, Daniela A DA; Hildebrandt, Friedhelm F

Publication Date: 2019-03-01

Variant appearance in text: COL4A5: 4309C>G; Gln1437Glu

PubMed Link: 30295827

Variant Present in the following documents:

• Main text

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