G Morin

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 174 citations · Full text

Medicine, Neurology, Neuropathology +2

Genetic Investigation of Autosomal Recessive Distal Renal Tubular Acidosis

Rosa Vargas‐Poussou, Pascal Houillier, Nelly Le Pottier et al. · Journal of the American Society of Nephrology · 2006 · 140 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Véronique Picard, Corinne Guitton, Isabelle Thuret et al. · Haematologica · 2019 · 119 citations · Full text

Life Sciences, Genetics, Hematology +14