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: ALK: D1163N; rs753670250

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Patil, Keshav K; Jordan, Earl Joseph EJ; Park, Jin H JH; Suresh, Krishna K; Smith, Courtney M CM; Lemmon, Abigail A AA; Mossé, Yaël P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R

Publication Date: 2021-03-09

Variant appearance in text: ALK: D1163N

PubMed Link: 33674381

Variant Present in the following documents:

• Main text
• pnas.202019132.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ALK: D1163N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: ALK: D1163N

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

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Anaplastic lymphoma kinase is a dependence receptor whose proapoptotic functions are activated by caspase cleavage.

Molecular And Cellular Biology

Mourali, Jaouhar J; Bénard, Alan A; Lourenço, Filipe Calheiros FC; Monnet, Céline C; Greenland, Catherine C; Moog-Lutz, Christel C; Racaud-Sultan, Claire C; Gonzalez-Dunia, Daniel D; Vigny, Marc M; Mehlen, Patrick P; Delsol, Georges G; Allouche, Michèle M

Publication Date: 2006-08

Variant appearance in text: ALK: D1163N

PubMed Link: 16880530

Variant Present in the following documents:

• Main text

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