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: KMT2D: 3883C>T; Pro1295Ser

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: KMT2D: P1295S; rs764956452

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Frontiers In Molecular Biosciences

Bukowska-Olech, Ewelina E; Sowińska-Seidler, Anna A; Larysz, Dawid D; Gawliński, Paweł P; Koczyk, Grzegorz G; Popiel, Delfina D; Gurba-Bryśkiewicz, Lidia L; Materna-Kiryluk, Anna A; Adamek, Zuzanna Z; Szczepankiewicz, Aleksandra A; Dominiak, Paweł P; Glista, Filip F; Matuszewska, Karolina K; Jamsheer, Aleksander A

Publication Date: 2022

Variant appearance in text: KMT2D: 3883C>T

PubMed Link: 35591945

Variant Present in the following documents:

• Main text

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Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

European Journal Of Human Genetics : Ejhg

Kammoun, Molka M; Brady, Paul P; De Catte, Luc L; Deprest, Jan J; Devriendt, Koenraad K; Vermeesch, Joris Robert JR

Publication Date: 2018-03

Variant appearance in text: KMT2D: 3883C>T

PubMed Link: 29358614

Variant Present in the following documents:

• Main text

View BVdb publication page