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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.
Molecular Genetics and Metabolism Reports|November 14, 2019
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanismMarie Faoucher, Anne-Lise Poulat, Nicolas Chatron, et al.
Molecular Syndromology|October 12, 2019
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome SequencingLinda Pons, Patrice Bouvagnet, Mohamed Bakloul, et al.
Epilepsia|April 22, 2025
Insights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic networkZeynep Gokce-Samar, Gaëtan Lesca, Julie Bourgeois-Vionnet, et al.
Atherosclerosis|November 13, 2020
PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420GCharlotte Decourt, Alexandre Janin, Marine Moindrot, et al.
Prenatal Diagnosis|July 13, 2019
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defectsMarguerite Hureaux, Selima Ben Miled, Nicolas Chatron, et al.
Journal of Thrombosis and Haemostasis : JTH|March 14, 2024
Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia AYohann Jourdy, Nicolas Chatron, Mathilde Frétigny, et al.
Epilepsia|September 21, 2023
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanismsLotten Ragnarsson, Zihan Zhang, Sooraj S Das, et al.
Neurology. Genetics|February 3, 2026
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic EncephalopathyAnna Corradi, Antonella Riva, Bruno Sterlini, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature reviewMalek Bouassida, Matthieu Egloff, Jonathan Levy, et al.
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