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Circulation. Genomic and Precision Medicine|December 7, 2023
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and PrognosisAlexis Hermida, Flavie Ader, Gilles Millat, 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.
American Journal of Medical Genetics. Part A|February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature reviewMarie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
Heart Rhythm|August 12, 2024
Systematic analysis of SCN5A variants associated with inherited cardiac diseasesAlexis Hermida, Guillaume Jedraszak, Flavie Ader, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Endocrine-Related Cancer|April 9, 2025
Genotype-specific neoplastic risk profiles in patients with VHL diseaseAthina Ganner, Alfonso Massimiliano Ferrara, Peggy Sekula, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|December 14, 2022
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitisEmmanuelle Masson, Maren Ewers, Sumit Paliwal, et al.
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