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The New England Journal of Medicine|November 29, 2013
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndromeGuillaume Assié, Rossella Libé, Stéphanie Espiard, et al.Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.American Journal of Human Genetics|August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier, Christopher T Gordon, François Godard, et al.American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.Journal of Medical Genetics|May 16, 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.Pageof 3