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: 2804G>A; Gly935Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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: 2804G>A; Gly935Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Kidney Medicine

Shulman, Cole C; Liang, Emerald E; Kamura, Misato M; Udwan, Khalil K; Yao, Tony T; Cattran, Daniel D; Reich, Heather H; Hladunewich, Michelle M; Pei, York Y; Savige, Judy J; Paterson, Andrew D AD; Suico, Mary Ann MA; Kai, Hirofumi H; Barua, Moumita M

Publication Date: 2021

Variant appearance in text: COL4A5: G935D; rs104886195

PubMed Link: 33851121

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• main.pdf
• mmc3.xlsx, sheet 1
• mmc1.pdf

View BVdb publication page

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Yao, Tony T; Udwan, Khalil K; John, Rohan R; Rana, Akanchaya A; Haghighi, Amirreza A; Xu, Lizhen L; Hack, Saidah S; Reich, Heather N HN; Hladunewich, Michelle Adrienne MA; Cattran, Daniel C DC; Paterson, Andrew D AD; Pei, York Y; Barua, Moumita M

Publication Date: 2019-02-07

Variant appearance in text: COL4A5: 2804G>A; Gly935Asp

PubMed Link: 30647093

Variant Present in the following documents:

• Main text

View BVdb publication page