Tony Roscioli

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 592 citations

Developmental Biology, Genetics, Pathology +7

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 304 citations · Full text

Baraitser-winter Syndrome, Genetic Disorder, Genetics +6

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 298 citations · Full text

Bioinformatics, Developmental Biology, Mendelian Disorder +11

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9