Ruben van ‘t Slot
Utrecht University(NL)University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Systemic Sclerosis and Related Diseases, Epilepsy research and treatment
Most-Cited Works
- → Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus(2010)400 cited
- → Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis Is Predominantly Associated with Innate Immune Genes(2007)290 cited
- → Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP(2008)256 cited
- → Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy(2011)233 cited
- → ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study(2007)210 cited
- → Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer(2011)208 cited
- → Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism(2009)143 cited
- → A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder(2009)112 cited
- → Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia(2015)111 cited
- → Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy(2014)100 cited