Publications:

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FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Scientific Reports

Fath, Felix F; Bengeser, Andreas A; Barresi, Mathias M; Binner, Priska P; Schwab, Stefanie S; Ray, Kausik K KK; Krämer, Bernhard K BK; Fraass, Uwe U; März, Winfried W

Publication Date: 2021-10-14

Variant appearance in text: APOB: 6639_6641del; Asp2213del

PubMed Link: 34650182

Variant Present in the following documents:

• 41598_2021_Article_99961.pdf

View BVdb publication page

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Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.

Journal Of Clinical Medicine

Sabatel-Pérez, Fernando F; Sánchez-Prieto, Joaquín J; Becerra-Muñoz, Víctor Manuel VM; Alonso-Briales, Juan Horacio JH; Mata, Pedro P; Rodríguez-Padial, Luis L

Publication Date: 2021-02-13

Variant appearance in text: APOB: 6639_6641del; Asp2213del

PubMed Link: 33668494

Variant Present in the following documents:

• jcm-10-00749-s001.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: APOB: 6639_6641delTGA; Asp2213del

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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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: APOB: 6639_6641delTGA; Asp2213del

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg

Brænne, Ingrid I; Kleinecke, Mariana M; Reiz, Benedikt B; Graf, Elisabeth E; Strom, Tim T; Wieland, Thomas T; Fischer, Marcus M; Kessler, Thorsten T; Hengstenberg, Christian C; Meitinger, Thomas T; Erdmann, Jeanette J; Schunkert, Heribert H

Publication Date: 2016-02

Variant appearance in text: APOB: 6636_6638del

PubMed Link: 26036859

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

Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE

Publication Date: 2014-08

Variant appearance in text: APOB: 6639_6641delTGA

PubMed Link: 24987033

Variant Present in the following documents:

• jmedgenet-2014-102405-s1.pdf

View BVdb publication page

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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research

Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA

Publication Date: 2014-04

Variant appearance in text: APOB: 6639_6641del

PubMed Link: 24503134

Variant Present in the following documents:

• supp_D045963_jlr.D045963-1.pdf

View BVdb publication page

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