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: 3097G>C; Gly1033Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury.

Scientific Reports

Randles, Michael J MJ; Collinson, Sophie S; Starborg, Tobias T; Mironov, Aleksandr A; Krendel, Mira M; Königshausen, Eva E; Sellin, Lorenz L; Roberts, Ian S D IS; Kadler, Karl E KE; Miner, Jeffrey H JH; Lennon, Rachel R

Publication Date: 2016-10-11

Variant appearance in text: COL4A5: 3097G>C

PubMed Link: 27725732

Variant Present in the following documents:

• Main text

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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Pediatric Nephrology (Berlin, Germany)

Lennon, Rachel R; Stuart, Helen M HM; Bierzynska, Agnieszka A; Randles, Michael J MJ; Kerr, Bronwyn B; Hillman, Katherine A KA; Batra, Gauri G; Campbell, Joanna J; Storey, Helen H; Flinter, Frances A FA; Koziell, Ania A; Welsh, Gavin I GI; Saleem, Moin A MA; Webb, Nicholas J A NJ; Woolf, Adrian S AS

Publication Date: 2015-09

Variant appearance in text: COL4A5: 3097G>C; Gly1033Arg

PubMed Link: 25739341

Variant Present in the following documents:

• Main text
• 467_2015_Article_3067.pdf

View BVdb publication page