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: rs143244149

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

The Journal Of Biological Chemistry

Sirp, Alex A; Roots, Kaisa K; Nurm, Kaja K; Tuvikene, Jürgen J; Sepp, Mari M; Timmusk, Tõnis T

Publication Date: 2021-11-06

Variant appearance in text: TCF4: N90S

PubMed Link: 34748727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

The Journal Of Biological Chemistry

Sirp, Alex A; Roots, Kaisa K; Nurm, Kaja K; Tuvikene, Jürgen J; Sepp, Mari M; Timmusk, Tõnis T

Publication Date: 2021-12

Variant appearance in text: TCF4: N90S

PubMed Link: 34748727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: TCF4: 269A>G; N90S; rs143244149

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing.

Molecular Psychiatry

Hu, X X; Zhang, B B; Liu, W W; Paciga, S S; He, W W; Lanz, T A TA; Kleiman, R R; Dougherty, B B; Hall, S K SK; McIntosh, A M AM; Lawrie, S M SM; Power, A A; John, S L SL; Blackwood, D D; St Clair, D D; Brandon, N J NJ

Publication Date: 2014-08

Variant appearance in text: TCF4: N90S

PubMed Link: 24126932

Variant Present in the following documents:

View BVdb publication page