Pascal Joset

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Screening for gene function in chicken embryo using RNAi and electroporation

Vladimír Pekařík, Dimitrios Bourikas, Nicola Miglino et al. · Nature Biotechnology · 2002 · 209 citations

Life Sciences, Genetics, Molecular Biology +13

The clinical significance of small copy number variants in neurodevelopmental disorders

Reza Asadollahi, Beatrice Oneda, Pascal Joset et al. · Journal of Medical Genetics · 2014 · 103 citations · Full text

Public Health, Health Behavior, Environmental Health +14

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>FOXP2</i> variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Miriam S. Reuter, Ute Moog, Tracy A. Briggs et al. · Journal of Medical Genetics · 2016 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17