Sylvie Manouvrier‐Hanu

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman et al. · Cell · 2020 · 182 citations · Full text

Human Enhancer Variants, Genetics, Human Polymorphism +4

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux, Emilie Bumsel, B. Hecketsweiler et al. · Human Molecular Genetics · 2006 · 170 citations

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 · 120 citations

Cardiovascular Disease, Behaviour Issues, Pediatric Heart Disease +9

Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Nicolas Chassaing, Christelle Golzio, Sylvie Odent et al. · Human Mutation · 2009 · 97 citations · Full text

Ocular Disease, Genetics, Pathology +21

Nager syndrome: confirmation of <i><scp>SF3B4</scp></i> haploinsufficiency as the major cause

Florence Petit, Fabienne Escande, A.‐S. Jourdain et al. · Clinical Genetics · 2013 · 74 citations

Clinical Disorders, Sclerostin, Mendelian Disorder +14