Marc Abramowicz

Mutations of the TGF-β type II receptorBMPR2 in pulmonary arterial hypertension

Rajiv D. Machado, Micheala A. Aldred, Victoria James et al. · Human Mutation · 2006 · 402 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

RDC8 codes for an adenosine A2 receptor with physiological constitutive activity

Carine Maenhaut, Jacqueline Van Sande, Frédérick Libert et al. · Biochemical and Biophysical Research Communications · 1990 · 269 citations

Life Sciences, Molecular Biology, Pharmacology +10