Raphaël Helaers

Somatic Activating PIK3CA Mutations Cause Venous Malformation

Nisha Limaye, J. Kangas, Antonella Mendola et al. · The American Journal of Human Genetics · 2015 · 354 citations · Full text

Medicine, Genetics, Molecular Genetics +10

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

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 244 citations

Medicine, Dermatology, Genetics +6

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3

Pascal Brouillard, Laura Dupont, Raphaël Helaers et al. · Human Molecular Genetics · 2017 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

M. H. Basha, Bénédicte Demeer, Nicole Revençu et al. · Journal of Medical Genetics · 2018 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17