Carlo Marcelis - Concepedia

Author

Carlo Marcelis

Also Known As

Britt-Marie Anderlid, C L M Marcelis, C L Marcelis, C Marcelis, C. L. M. Marcelis, C. Marcelis, C.L. Marcelis, C.L.M. Marcelis, CL Marcelis, CLM Marcelis

198

Publications

8.2K

Citations

H-Index

124

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center University Medical Center Groningen Maastricht University University of Groningen

About

Carlo Marcelis is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	44	4.3K
2	Education	2	2	55
3	Engineering	2	2	61
4	Natural Sciences	2	2	168
5	Health Sciences	1	1	55

Carlo Marcelis

102

Publications

7.1K

Citations

H-Index

Page 1

	Year	Citations
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics	2014	369
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Claire Redin, Harrison Brand, Ryan L. Collins, Nature Genetics Human Congenital AnomaliesDevelopmental AnomalyDevelopmental BiologyCytogeneticsGenomic Landscape	2016	346
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, Human Mutation Exome SequencingGeneticsGenetic EpidemiologyDiagnosisPathology	2013	336
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger, Nature Genetics BioinformaticsDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2010	298
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies Winnok H. De Vos, Frederik Houben, M. A. F. Kamps, Human Molecular Genetics ChromatinSatellite Pml StructuresDevelopmental BiologyNuclear StructureCell Division	2011	281
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology	2005	276
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Nature Communications	2016	255
<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha, New England Journal of Medicine Bone DiseaseSclerostinBone HealthX-linked OsteoporosisFracture Diagnostics	2013	195
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication Pavithra L. Chavali, Lovorka Stojic, Luke W. Meredith, Science	2017	178
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, The American Journal of Human Genetics Developmental BiologyRac1 Missense MutationsGenetic DisorderGeneticsFragile X Spectrum	2017	163

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