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Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, 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.
Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.
European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
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