Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1685G>A; Trp562Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: LDLR: 1685G>A; Trp562*; rs875989925

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

---

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: 1685G>A; Trp562Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: LDLR: 1685G>A; W562*

PubMed Link: 24987033

Variant Present in the following documents:

• jmedgenet-2014-102405-s1.pdf

View BVdb publication page

---

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

Journal Of Medical Genetics

Futema, Marta M; Plagnol, Vincent V; Whittall, Ros A RA; Neil, H Andrew W HA; , ; Humphries, Steve Eric SE; ,

Publication Date: 2012-10

Variant appearance in text: LDLR: 1685G>A; W562X

PubMed Link: 23054246

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101189.pdf

View BVdb publication page

---

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation

Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP

Publication Date: 2010-11

Variant appearance in text: LDLR: 1685G>A; Trp562X

PubMed Link: 20809525

Variant Present in the following documents:

• Main text
• humu0031-E1811.pdf

View BVdb publication page

---