Martin Chevarin

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany, Christel Thauvin‐Robinet, Daphné Lehalle et al. · European Journal of Medical Genetics · 2017 · 37 citations

Bioinformatics, Long-read Sequencing, Genetic Testing +13

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard et al. · Genetics in Medicine · 2021 · 30 citations · Full text

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

François Lecoquierre, Yannis Duffourd, Antonio Vitobello et al. · Genetics in Medicine · 2019 · 28 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +11

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Christel Thauvin‐Robinet, Julien Thévenon, Sophie Nambot et al. · European Journal of Human Genetics · 2019 · 25 citations · Full text

Infertility, Exome Sequencing, Genetic Epidemiology +11