Serge Amselem

<i>MUC5B</i> Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

Pierre‐Antoine Juge, Joyce Lee, Esther Ebstein et al. · New England Journal of Medicine · 2018 · 475 citations · Full text

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 393 citations · Full text

Mendelian Disorder, Genetics, Pathogenesis +6

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine, Marie‐Laure Sobrier, Heiko Krude et al. · Nature Genetics · 2000 · 366 citations

Pituitary Gland, Endocrine Disease, Human Growth +9

Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes

Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri et al. · Proceedings of the National Academy of Sciences · 2008 · 365 citations · Full text

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 339 citations · Full text

Normal Ciliary Motility, Molecular Biology, Cytoskeleton +4