Publications:

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs61751538

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: NOTCH1: Q1691H; rs61751538

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular Genetics & Genomic Medicine

Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK

Publication Date: 2020-10

Variant appearance in text: NOTCH1: Gln1691His

PubMed Link: 32748548

Variant Present in the following documents:

• Main text
• MGG3-8-e1406.pdf

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