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: 269A>G; Asp90Gly
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.
Frontiers In Genetics
Diboun, Ilhame I; Al-Sarraj, Yasser Y; Toor, Salman M SM; Mohammed, Shaban S; Qureshi, Nadeem N; Al Hail, Moza S H MSH; Jayyousi, Amin A; Al Suwaidi, Jassim J; Albagha, Omar M E OME
Publication Date: 2022
Variant appearance in text: LDLR: Asp90Gly; rs771019366
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: 269A>G; Asp90Gly
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: 269A>G; Asp90Gly