Frans W. Verheijen

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki et al. · Journal of the American College of Cardiology · 2015 · 297 citations · Full text

Medicine, Cardiology, Genetics +16

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 293 citations

Life Sciences, Genetics, Molecular Biology +5

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 290 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases

Niels Galjart, Nynke Gillemans, Alan Harris et al. · Cell · 1988 · 220 citations

Life Sciences, Biochemistry, Molecular Biology +9

<i>D</i><scp><i>NAJC</i></scp><i>6</i><scp>M</scp>utations <scp>A</scp>ssociated <scp>W</scp>ith <scp>E</scp>arly‐<scp>O</scp>nset <scp>P</scp>arkinson's <scp>D</scp>isease

Simone Olgiati, Marialuisa Quadri, Mingyan Fang et al. · Annals of Neurology · 2015 · 205 citations · Full text

Life Sciences, Genetics, Neurology +17