Jeroen Schoots
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Hedgehog Signaling Pathway Studies, Congenital limb and hand anomalies, Genomic variations and chromosomal abnormalities, Congenital Ear and Nasal Anomalies, Ion Transport and Channel Regulation
Most-Cited Works
- → Mutation update on the CHD7 gene involved in CHARGE syndrome(2012)253 cited
- → Mutations in the pre-replication complex cause Meier-Gorlin syndrome(2011)250 cited
- → Mutations in the Human TBX4 Gene Cause Small Patella Syndrome(2004)181 cited
- → Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects(2012)180 cited
- → Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy(2005)158 cited
- → Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis(2012)110 cited
- → A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism(2010)104 cited
- → Meier-Gorlin syndrome(2015)87 cited
- → Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability(2018)83 cited
- → The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP(2013)83 cited