Vinod Varghese
University of Dundee(GB)MRC Protein Phosphorylation and Ubiquitylation Unit(GB)Genomics (United Kingdom)(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Epigenetics and DNA Methylation
Most-Cited Works
- → De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development(2017)132 cited
- → The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants(2018)110 cited
- → Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing(2017)77 cited
- → Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging(2019)68 cited
- → The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction(2020)48 cited
- → De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome(2019)46 cited