Anne‐Laure Mosca‐Boidron

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 93 citations

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy et al. · npj Genomic Medicine · 2017 · 79 citations · Full text

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet et al. · European Journal of Human Genetics · 2015 · 63 citations · Full text

<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Daphné Lehalle, Anne‐Laure Mosca‐Boidron, Amber Begtrup et al. · Journal of Medical Genetics · 2017 · 60 citations

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

Salima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel‐Paulet et al. · European Journal of Medical Genetics · 2011 · 54 citations

Pituitary Disease, Pituitary Gland