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American Journal of Medical Genetics. Part A|July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathyPauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.
Bone|March 26, 2019
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1BCindy Colson, Matthieu Decamp, Nicolas Gruchy, et al.
Nature Communications|May 9, 2020
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylationAline Gaub, Bilal N Sheikh, M Felicia Basilicata, et al.
Neuropediatrics|March 7, 2020
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIAChloé Angelini, Marie Thibaud, Nathalie Aladjidi, et al.
Pediatric Nephrology (Berlin, Germany)|May 14, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninismLuisa Marsili, Matthieu Mantecon, Christelle Arrondel, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.
Human Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.
Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
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