Julie Désir

Rfx6 directs islet formation and insulin production in mice and humans

Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb et al. · Nature · 2010 · 363 citations · Full text

Life Sciences, Endocrinology, Physiology +14

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 292 citations

Medicine, Genetics, Cardiovascular Genetics +14

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Adeline K. Nicholas, Maryam Khurshid, Julie Désir et al. · Nature Genetics · 2010 · 291 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 208 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 168 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +17