Nicolas Gruchy

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib

Nicolas Richard, Geneviève Abéguilé, Nadia Coudray et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 95 citations

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations

Nicolas Gruchy, M. Barreau, Ketty Kessler et al. · American Journal of Medical Genetics Part A · 2009 · 86 citations

Supernumerary marker chromosomes management in prenatal diagnosis

Nicolas Gruchy, Marine Lebrun, M. Herlicoviez et al. · American Journal of Medical Genetics Part A · 2008 · 85 citations

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