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: ALG1: F292L

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: ALG1: F292L

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Limitations of exome sequencing in detecting rare and undiagnosed diseases.

American Journal Of Medical Genetics. Part A

Burdick, Kendall J KJ; Cogan, Joy D JD; Rives, Lynette C LC; Robertson, Amy K AK; Koziura, Mary E ME; Brokamp, Elly E; Duncan, Laura L; Hannig, Vickie V; Pfotenhauer, Jean J; Vanzo, Rena R; Paul, Michael S MS; Bican, Anna A; Morgan, Thomas T; Duis, Jessica J; Newman, John H JH; Hamid, Rizwan R; Phillips, John A JA; ,

Publication Date: 2020-06

Variant appearance in text: ALG1: Phe292Leu

PubMed Link: 32190976

Variant Present in the following documents:

• Main text

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