Daphné Lehalle

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

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Intellectual Impairment +13

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux et al. · Nature Genetics · 2017 · 153 citations · Full text

Knockout Mouse, Synaptic Plasticity, Neurobiology Of Disease +12

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Florian Villegas, Daphné Lehalle, Daniela Mayer et al. · Cell stem cell · 2018 · 109 citations · Full text

Cell Lineage, Lineage Plasticity, Developmental Biology +10