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: 2547+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Journal Of Personalized Medicine

Wildin, Robert S RS; Gerrard, Diana L DL; Leonard, Debra G B DGB

Publication Date: 2022-11-28

Variant appearance in text: LDLR: 2547+1G>A

PubMed Link: 36556183

Variant Present in the following documents:

• Main text

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Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes

Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I

Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2547+1G>A

PubMed Link: 35052492

Variant Present in the following documents:

• Main text
• genes-13-00153.pdf

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Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes

Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I

Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2547+1G>A

PubMed Link: 35052492

Variant Present in the following documents:

• Main text
• genes-13-00153.pdf

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 2547+1G>A

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

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