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: 1202T>A; Leu401His
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.
Frontiers In Genetics
Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N
Publication Date: 2022
Variant appearance in text: LDLR: Leu401His; rs121908038
Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Publication Date: 2021-11-19
Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24
Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
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: 1202T>A; Leu401His
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01
Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T
Publication Date: 2019-05
Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O