Linda Pons

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 79 citations · Full text

A new syndrome of intellectual disability with dysmorphism due to <i>TBL1XR1</i> deletion

Linda Pons, Marie Pierre Cordier, Audrey Labalme et al. · American Journal of Medical Genetics Part A · 2014 · 46 citations · Full text

Brain Development, Genetics, Molecular Biology +19

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Hui Guo, Qiumeng Zhang, Rujia Dai et al. · The American Journal of Human Genetics · 2020 · 38 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

Sara Cabet, Gaëtan Lesca, Audrey Labalme et al. · European Journal of Medical Genetics · 2020 · 18 citations · Full text

Developmental Biology, Syndromic Autism, Medicine +9