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Nucleic Acids Research|December 20, 2022
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complexFatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, et al.
European Journal of Medical Genetics|August 31, 2020
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy SyndromeTania Dery, Nicolas Chatron, Amerh Alqahtani, et al.
Clinical Genetics|June 5, 2024
B-cell immune deficiency in twin sisters expands the phenotype of MOPDILucas W Gauthier, Morgane Gossez, Christophe Malcus, et al.
Brain : a Journal of Neurology|October 15, 2019
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variantsNicolas Chatron, Sara Cabet, Eudeline Alix, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctataAlix Mathonnet, Séverine Cunat, Fabienne Allias, et al.
European Journal of Medical Genetics|September 27, 2023
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defectSilvestre Cuinat, Chloé Quélin, Laurent Pasquier, et al.
EMBO Molecular Medicine|July 11, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophySylvie Gerber, Lola Lessard, Cécile Rouzier, et al.
Molecular Genetics & Genomic Medicine|August 28, 2019
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literatureAmerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, et al.
Plos One|July 7, 2020
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal geneClara Benoit-Pilven, Alicia Besson, Audrey Putoux, 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.
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