Roseline Caumes

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 122 citations

Medicine, Genetics, Pediatrics +17

<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem et al. · Journal of Medical Genetics · 2012 · 98 citations

Life Sciences, Genetics, Molecular Genetics +13

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Geneviève Baujat, Céline Huber, Joyce El Hokayem et al. · Journal of Medical Genetics · 2013 · 93 citations

Medicine, Genetics, Molecular Genetics +15

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +17

Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem et al. · Human Mutation · 2014 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17