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 · 398 citations · Full text

Hypertension, Genetics, Pathology +17

Rfx6 directs islet formation and insulin production in mice and humans

Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb et al. · Nature · 2010 · 359 citations · Full text

Metabolic Syndrome, Insulin Production, Insulin Signaling +10

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 · 286 citations · Full text

Spindle Pole, Molecular Neuroscience, Disease Mechanism +6

<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 · 282 citations

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

Physiological Constitutive Activity, Signal Transduction, Molecular Physiology +11