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: 1075G>A; Gly359Arg

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: 1075G>A; Gly359Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Journal Of Nephrology

Vaisitti, Tiziana T; Sorbini, Monica M; Callegari, Martina M; Kalantari, Silvia S; Bracciamà, Valeria V; Arruga, Francesca F; Vanzino, Silvia Bruna SB; Rendine, Sabina S; Togliatto, Gabriele G; Giachino, Daniela D; Pelle, Alessandra A; Cocchi, Enrico E; Benvenuta, Chiara C; Baldovino, Simone S; Rollino, Cristiana C; Fenoglio, Roberta R; Sciascia, Savino S; Tamagnone, Michela M; Vitale, Corrado C; Calabrese, Giovanni G; Biancone, Luigi L; Bussolino, Stefania S; Savoldi, Silvana S; Borzumati, Maurizio M; Cantaluppi, Vincenzo V; Chiappero, Fabio F; Ungari, Silvana S; Peruzzi, Licia L; Roccatello, Dario D; Amoroso, Antonio A; Deaglio, Silvia S

Publication Date: 2021-10

Variant appearance in text: COL4A5: 1075G>A; Gly359Arg

PubMed Link: 33226606

Variant Present in the following documents:

• 40620_2020_Article_898.pdf

View BVdb publication page