Carlo Marcelis

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 369 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +9

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23

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

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies

Winnok H. De Vos, Frederik Houben, M. A. F. Kamps et al. · Human Molecular Genetics · 2011 · 281 citations · Full text

Chromatin, Satellite Pml Structures, Developmental Biology +15