Paul R. Mark
Helen DeVos Children's Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Congenital heart defects research
Most-Cited Works
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → NAD Deficiency, Congenital Malformations, and Niacin Supplementation(2017)237 cited
- → Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome(2019)125 cited
- → Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome(2021)104 cited
- → Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy(2019)98 cited
- → Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations(2018)80 cited
- → Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes(2016)65 cited
- → Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis(2016)63 cited
- → Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants(2022)48 cited
- → Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders(2021)46 cited