Publications:

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: NOTCH1: K1498E; rs745681787

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach.

Journal Of Clinical Medicine

Girdauskas, Evaldas E; Kaemmerer, Harald H; von Kodolitsch, Yskert Y

Publication Date: 2020-01-11

Variant appearance in text: NOTCH1: K1498E

PubMed Link: 31940858

Variant Present in the following documents:

• Main text
• jcm-09-00204.pdf

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MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

Plos One

Girdauskas, Evaldas E; Petersen, Johannes J; Neumann, Niklas N; Ungelenk, Martin M; Kurth, Ingo I; Reichenspurner, Hermann H; Zeller, Tanja T

Publication Date: 2018

Variant appearance in text: NOTCH1: 4492A>G; K1498E

PubMed Link: 30059548

Variant Present in the following documents:

• Main text
• pone.0200205.pdf

View BVdb publication page