Anne‐Marie Guerrot

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Caroline Michot, Carine Le Goff, Alice Goldenberg et al. · The American Journal of Human Genetics · 2012 · 123 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Sarah Grotto, Jean‐Marie Cuisset, Stéphane Marret et al. · Journal of Neuromuscular Diseases · 2016 · 90 citations

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier et al. · American Journal of Medical Genetics Part A · 2016 · 85 citations

Developmental Anomaly, Developmental Biology, Molecular Findings +13

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar, Sabrina Corrêa da Costa, Inès Braham et al. · EBioMedicine · 2022 · 83 citations · Full text

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