Carlo Marcelis
Allen Institute for Brain Science(US)Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Esophageal and GI Pathology, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited
- → Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome(2010)299 cited
- → Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies(2011)284 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited