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: FLNB: V979M; rs376511120

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: FLNB: V979M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.

Cold Spring Harbor Molecular Case Studies

Sjaarda, Calvin P CP; Kaiser, Beatrice B; McNaughton, Amy J M AJM; Hudson, Melissa L ML; Harris-Lowe, Liam L; Lou, Kyle K; Guerin, Andrea A; Ayub, Muhammad M; Liu, Xudong X

Publication Date: 2020-06

Variant appearance in text: rs376511120

PubMed Link: 32321736

Variant Present in the following documents:

• Main text
• MCS004721Sja.pdf

View BVdb publication page