Juliette Dupont

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers et al. · Circulation · 2017 · 293 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer et al. · Human Molecular Genetics · 2013 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

David A. Koolen, Juliette Dupont, Nicole de Leeuw et al. · European Journal of Human Genetics · 2012 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14