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Fertility and Sterility|December 3, 2014
Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A reviewFranck Pellestor, Vincent Gatinois, Jacques Puechberty, et al.Medecine Sciences : M/S|January 30, 2014
[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability]Vincent Gatinois, Jacques Puechberty, Geneviève Lefort, et al.Medecine Sciences : M/S|April 2, 2014
[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements]Franck Pellestor, Vincent Gatinois, Jacques Puechberty, et al.Journal of Psychiatric Research|November 14, 2020
Association between prenatal and perinatal factors and the severity of clinical presentation of children with ASD: Report from the ELENA COHORTSabine Traver, Marie-Maude Geoffray, Lucile Mazières, et al.European Journal of Medical Genetics|April 15, 2022
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1Quentin Sabbagh, Fanny Alkar, Karine Patte, et al.European Journal of Human Genetics : EJHG|September 23, 2025
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variantsMelek Trigui, Nathalie Pallares-Ruiz, David Geneviève, et al.American Journal of Medical Genetics. Part A|August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patientsMathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.American Journal of Medical Genetics. Part A|April 23, 2016
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmiaNicolas Chassaing, Nicola Ragge, Julie Plaisancié, et al.Human Mutation|April 18, 2018
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicismStéphanie Tomé, Elodie Dandelot, Céline Dogan, et al.American Journal of Medical Genetics. Part A|April 9, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literatureLeila Ghesh, Marie Vincent, Anne-Sophie Delemazure, et al.Pageof 13