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European Journal of Medical Genetics|September 15, 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of FranceAllan Lançon, Amandine Beaudouin, Laetitia Lambert, et al.Journal of Medical Genetics|August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive casesCaroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.European Journal of Human Genetics : EJHG|January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderCéline Jost, Tiffany Busa, Daniel Wegner, et al.European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.Molecular Psychiatry|October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delaySenwei Tan, Qiumeng Zhang, Rui Zhan, et al.Prenatal Diagnosis|July 23, 2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHSCharlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, et al.Frontiers in Genetics|May 8, 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosisFrédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, et al.The Journal of Clinical Investigation|May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingRémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.Pageof 4