Publications:

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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: LDLR: E408Q; rs137943601

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs137943601

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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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: LDLR: E408Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs137943601

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: LDLR: 1222G>C; E408Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A

Publication Date: 2018-11

Variant appearance in text: rs137943601

PubMed Link: 30293248

Variant Present in the following documents:

• Main text
• MGG3-6-1041.pdf

View BVdb publication page

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