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: 4964T>G; Leu1655Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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: rs104886303

PubMed Link: 33851121

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: rs104886303

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: rs104886303

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Plos One

Savige, Judith J; Storey, Helen H; Il Cheong, Hae H; Gyung Kang, Hee H; Park, Eujin E; Hilbert, Pascale P; Persikov, Anton A; Torres-Fernandez, Carmen C; Ars, Elisabet E; Torra, Roser R; Hertz, Jens Michael JM; Thomassen, Mads M; Shagam, Lev L; Wang, Dongmao D; Wang, Yanyan Y; Flinter, Frances F; Nagel, Mato M

Publication Date: 2016

Variant appearance in text: COL4A5: Leu1655Arg

PubMed Link: 27627812

Variant Present in the following documents:

• Main text
• pone.0161802.pdf

View BVdb publication page