Richard Person
GenVec(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Blood disorders and treatments, Epigenetics and DNA Methylation
Most-Cited Works
- → Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders(2013)1,960 cited
- → Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing(2014)1,387 cited
- → Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster(2008)660 cited
- → Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia(2000)558 cited
- → Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis(1999)461 cited
- → Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2(2003)387 cited
- → Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome