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Orphanet Journal of Rare Diseases|June 2, 2019
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum DisorderJulie Masson, Caroline Demily, Nicolas Chatron, et al.
Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.
Birth Defects Research|July 9, 2024
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicismEmmanuelle Pannier, Abel Sekri, Nathalie Roux, et al.
Epilepsia|June 9, 2025
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcomeClément Pierret, Florence Riccardi, Julien Neveu, et al.
NPJ Genomic Medicine|June 17, 2022
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil countsGiuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, et al.
Molecular Biology and Evolution|August 31, 2021
Alpha Satellite Insertion Close to an Ancestral Centromeric RegionGiuliana Giannuzzi, Glennis A Logsdon, Nicolas Chatron, et al.
Annals of Neurology|October 21, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSLaure Mazzola, Karen L Oliver, Audrey Labalme, et al.
Clinical Genetics|February 24, 2025
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz SyndromeMiriam Essid, Sana Karoui, Mouna Zribi, et al.
Atherosclerosis|June 11, 2026
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencingLisa Jeanpetit, Corentin Molitor, Alexandre Janin, et al.
Epilepsia|April 25, 2026
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathyMira Hamze, Robyn Whitney, Dorothée Ville, et al.
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