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Genes, Chromosomes & Cancer|December 11, 2022
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancerJulie Leclerc, Marie Beaumont, Roseline Vibert, et al.Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.Molecular Genetics and Metabolism|October 4, 2015
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation SequencingAgnès Taillandier, Christelle Domingues, Clémence De Cazanove, et al.Drugs & Aging|June 19, 2015
Can We Identify Patients with High Risk of Osteoarthritis Progression Who Will Respond to Treatment? A Focus on Biomarkers and FrailtyNigel Arden, Pascal Richette, Cyrus Cooper, et al.Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.Cell|March 15, 2020
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer VariantsEvgeny Z Kvon, Yiwen Zhu, Guy Kelman, et al.Acta Neuropathologica Communications|July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathiesAurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, et al.Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.Pageof 15