Publications:

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

AE Semenova, IV Sergienko, D García-Giustiniani, L Monserrat, AB Popova, DN Nozadze, MV Ezhov

Publication Date: 2020-05-14

Variant appearance in text: LDLR: Val827Ile

PubMed Link: 32423031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine

YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson

Publication Date: 2018-12

Variant appearance in text: LDLR: Val827Ile; rs137853964

PubMed Link: 31106297

Variant Present in the following documents:

• Main text
• nihms-1512622.pdf
• NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf

View BVdb publication page

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 2479G>A; Val827Ile

PubMed Link: 29874871

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential analysis of mutations in the Jewish population and their implications for diseases.

Genetics Research

Y Einhorn, D Weissglas-Volkov, S Carmi, H Ostrer, E Friedman, N Shomron

Publication Date: 2017-05-15

Variant appearance in text: rs137853964

PubMed Link: 28502252

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology

AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan

Publication Date: 2016-06-07

Variant appearance in text: LDLR: Val827Ile

PubMed Link: 27050191

Variant Present in the following documents:

• NIHMS853613-supplement-Appendix.docx

View BVdb publication page

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The UK10K project identifies rare variants in health and disease.

Nature

, K Walter, JL Min, J Huang, L Crooks, Y Memari, S McCarthy, JR Perry, C Xu, M Futema, D Lawson, V Iotchkova, S Schiffels, AE Hendricks, P Danecek, R Li, J Floyd, LV Wain, I Barroso, SE Humphries, ME Hurles, E Zeggini, JC Barrett, V Plagnol, JB Richards, CM Greenwood, NJ Timpson, R Durbin, N Soranzo

Publication Date: 2015-10-01

Variant appearance in text: LDLR: V827I; rs137853964

PubMed Link: 26367797

Variant Present in the following documents:

• NIHMS64288-supplement-Tables_S1-S19.xlsx

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut

Publication Date: 2015

Variant appearance in text: LDLR: 2479G>A; Val827Ile; rs137853964

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz

Publication Date: 2015-02

Variant appearance in text: LDLR: V827I

PubMed Link: 25647241

Variant Present in the following documents:

• pgen.1004855.s008.docx
• pgen.1004855.s013.docx
• pgen.1004855.s014.docx
• pgen.1004855.s018.docx
• pgen.1004855.s019.xlsx

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Y Freudenberg-Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, D Ben-Avraham, N Barzilai, D Oschwald, E Christen, J Koppel, B Greenwald, RB Darnell, S Germer, G Atzmon, P Davies

Publication Date: 2014-09

Variant appearance in text: LDLR: V827I; rs137853964

PubMed Link: 25333069

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics

M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries

Publication Date: 2014-08

Variant appearance in text: LDLR: 2479G>A; V827I

PubMed Link: 24987033

Variant Present in the following documents:

• jmedgenet-2014-102405-s1.pdf

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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics

PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman

Publication Date: 2014-06-23

Variant appearance in text: LDLR: 2479G>A; Val827Ile

PubMed Link: 24956927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics

LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,

Publication Date: 2014-02-06

Variant appearance in text: LDLR: Val827Ile

PubMed Link: 24507775

Variant Present in the following documents:

• mmc1.pdf

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics

MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, CJ Gallego, RL Bennett, KL Jones, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal, DS Kim, , HK Tabor, MJ Bamshad, AG Motulsky, CR Scott, CC Pritchard, T Walsh, W Burke, WH Raskind, P Byers, FM Hisama, DA Nickerson, GP Jarvik

Publication Date: 2013-10-03

Variant appearance in text: LDLR: 2479G>A; Val827Ile; rs137853964

PubMed Link: 24055113

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics

M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,

Publication Date: 2012-10

Variant appearance in text: LDLR: 2479G>A; V827I

PubMed Link: 23054246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.2734G>A	p.Val912Ile	missense_variant	17/18	-
ENST00000455727.2	c.1975G>A	p.Val659Ile	missense_variant	15/16	-
ENST00000535915.1	c.2356G>A	p.Val786Ile	missense_variant	16/17	-
ENST00000545707.1	c.1945G>A	p.Val649Ile	missense_variant	15/16	-
ENST00000557933.1	c.2541G>A	p.Pro847=	synonymous_variant	17/18	-
ENST00000558013.1	c.2479G>A	p.Val827Ile	missense_variant	17/18	-
ENST00000558518.1	c.2479G>A	p.Val827Ile	missense_variant	17/18	-
ENST00000560628.1	n.108+1948G>A	-	intron_variant,non_coding_transcript_variant	-	1/1
NM_000527.5	c.2479G>A	p.Val827Ile	missense_variant	17/18	-
NM_001195798.2	c.2479G>A	p.Val827Ile	missense_variant	17/18	-
NM_001195799.2	c.2356G>A	p.Val786Ile	missense_variant	16/17	-
NM_001195800.2	c.1975G>A	p.Val659Ile	missense_variant	15/16	-
NM_001195803.2	c.1945G>A	p.Val649Ile	missense_variant	15/16	-