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: PC: R377W; rs1304063564

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic diseases of the Kennedy pathways for membrane synthesis.

The Journal Of Biological Chemistry

Tavasoli, Mahtab M; Lahire, Sarah S; Reid, Taryn T; Brodovsky, Maren M; McMaster, Christopher R CR

Publication Date: 2020-12-18

Variant appearance in text: PC: 1129C>T; R377*

PubMed Link: 33454021

Variant Present in the following documents:

• Main text

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Brain : A Journal Of Neurology

Vaz, Frédéric M FM; McDermott, John H JH; Alders, Mariëlle M; Wortmann, Saskia B SB; Kölker, Stefan S; Pras-Raves, Mia L ML; Vervaart, Martin A T MAT; van Lenthe, Henk H; Luyf, Angela C M ACM; Elfrink, Hyung L HL; Metcalfe, Kay K; Cuvertino, Sara S; Clayton, Peter E PE; Yarwood, Rebecca R; Lowe, Martin P MP; Lovell, Simon S; Rogers, Richard C RC; , ; van Kampen, Antoine H C AHC; Ruiter, Jos P N JPN; Wanders, Ronald J A RJA; Ferdinandusse, Sacha S; van Weeghel, Michel M; Engelen, Marc M; Banka, Siddharth S

Publication Date: 2019-11-01

Variant appearance in text: PC: 1129C>T; Arg377Ter

PubMed Link: 31637422

Variant Present in the following documents:

• Main text

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Structural and mechanistic insights into ATRX-dependent and -independent functions of the histone chaperone DAXX.

Nature Communications

Hoelper, Dominik D; Huang, Hongda H; Jain, Aayushi Y AY; Patel, Dinshaw J DJ; Lewis, Peter W PW

Publication Date: 2017-10-30

Variant appearance in text: PC: R377W

PubMed Link: 29084956

Variant Present in the following documents:

• Main text
• 41467_2017_Article_1206.pdf

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