Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.
Frontiers In Medicine
Awan, Zuhier Ahmed ZA; Rashidi, Omran M OM; Al-Shehri, Bandar Ali BA; Jamil, Kaiser K; Elango, Ramu R; Al-Aama, Jumana Y JY; Hegele, Robert A RA; Banaganapalli, Babajan B; Shaik, Noor A NA
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: 1731G>T; Trp577Cys
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.
Advances In Therapy
Ben-Omran, Tawfeg T; Masana, Luis L; Kolovou, Genovefa G; Ariceta, Gema G; Nóvoa, F Javier FJ; Lund, Allan M AM; Bogsrud, Martin P MP; Araujo, María M; Hussein, Osamah O; Ibarretxe, Daiana D; Sanchez-Hernández, Rosa M RM; Santos, Raul D RD
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
International Journal Of Molecular Sciences
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C