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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.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, 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.
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.
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.
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.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, 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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