Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: LDLR: 2289G>T; Glu763Asp; rs774698247

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: E763D; rs774698247

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 2289G>T; E763D

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 2289G>T; Glu763Asp

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Lipids In Health And Disease

Paththinige, C S CS; Rajapakse, J R D K JRDK; Constantine, G R GR; Sem, K P KP; Singaraja, R R RR; Jayasekara, R W RW; Dissanayake, V H W VHW

Publication Date: 2018-05-02

Variant appearance in text: LDLR: Glu763Asp

PubMed Link: 29720182

Variant Present in the following documents:

• Main text
• 12944_2018_Article_763.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 2289G>T; Glu763Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel low density lipoprotein receptor variant linked to early onset acute myocardial infarction in a patient with familial hypercholesterolaemia.

Jrsm Open

Bangash, Fatima A FA; Antbring, Carl Rh CR; Wald, David S DS

Publication Date: 2014-04

Variant appearance in text: LDLR: 2289G>T; Glu763Asp

PubMed Link: 25057385

Variant Present in the following documents:

• Main text
• 10.1177_2042533313518917.pdf

View BVdb publication page

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