The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Authors: Joana R Chora; Michael A Iacocca; Lukáš Tichý; Hannah Wand; C Lisa Kurtz; Heather Zimmermann; Annette Leon; Maggie Williams; Steve E Humphries; Amanda J Hooper; Mark Trinder; Liam R Brunham; Alexandre Costa Pereira; Cinthia E Jannes; Margaret Chen; Jessica Chonis; Jian Wang; Serra Kim; Tami Johnston; Premysl Soucek; Michal Kramarek; Sarah E Leigh; Alain Carrié; Eric J Sijbrands; Robert A Hegele; Tomáš Freiberger; Joshua W Knowles; Mafalda Bourbon
Collaborators: Color Genomics; Erasmus University Medical Center; eviCore healthcare; GeneDx; Genomics England; Hospital das Clínicas da Universidade de São Paulo; Masaryk University; North Bristol NHS Trust; Sorbonne Universités, Paris, France; Stanford; The Hospital for Sick Children, The University of Toronto; University College London; University Hospital Brno; University of Lisbon; University of Western Australia; Western University, London, Ontario, Canada