Jan M. Friedman
Researcher Next ID · RN-024195
Researcher · Medicine
University of British Columbia
Vancouver, Ireland
- Works count
- 503
- Citation count
- 34,781
- H-index
- 96
- i10-index
- 315
Research interests
Publications
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Genetics in Medicine · 2022 · https://doi.org/10.1016/j.gim.2022.05.007
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Genetics in Medicine · 2021 · https://doi.org/10.1038/s41436-021-01170-5
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.11.013
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
The American Journal of Human Genetics · 2010 · https://doi.org/10.1016/j.ajhg.2010.04.006
Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2007.12.009
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
The American Journal of Human Genetics · 2006 · https://doi.org/10.1086/507471
Human Chromosome 7: DNA Sequence and Biology
Science · 2003 · https://doi.org/10.1126/science.1083423
Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
The Lancet · 2002 · https://doi.org/10.1016/s0140-6736(02)08092-3
Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
PEDIATRICS · 2000 · https://doi.org/10.1542/peds.105.3.608
Current projects
No projects listed.