George P. Patrinos

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor et al. · Nature Genetics · 2013 · 625 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Jesse J. Swen, Cathelijne H. van der Wouden, Lisanne E. N. Manson et al. · The Lancet · 2023 · 514 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +13

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda Giardine, Joseph Borg, Emmanouil Viennas et al. · Nucleic Acids Research · 2013 · 473 citations · Full text

Life Sciences, Genetics, Hematology +16

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

Ross C. Hardison, David H.K. Chui, Belinda Giardine et al. · Human Mutation · 2002 · 436 citations

Medicine, Genetics, Hematology +17

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Joseph Borg, Petros Papadopoulos, Marianthi Georgitsi et al. · Nature Genetics · 2010 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11