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Human Genetics|May 14, 2020
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disordersFrederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Clinical Genetics|January 30, 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 geneMarlène Malbos, Emma Wakeling, Thierry Gautier, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
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