World's Best Scientists 2026 revealed!

D-Index & Metrics

Medicine

D-Index
89
Citations
31692
World Ranking
12613
National Ranking
519

Overview

Jan M. Friedman is affiliated with the University of British Columbia in Canada and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a focus also on medicine. Their work spans several subfields including genetics, molecular biology, neurology, public health, environmental and occupational health, as well as pediatrics, perinatology, and child health.

The scientist's research primarily addresses genomics and rare diseases, with notable topics encompassing BRCA gene mutations in cancer, genomic variations and chromosomal abnormalities, neurofibromatosis and schwannoma cases, genetic neurodegenerative diseases, ethics in clinical research, and meningioma and schwannoma management.

Among recent papers authored or coauthored by Jan M. Friedman are the following:

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation, 2021, Genetics in Medicine
  • Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation, 2022, Genetics in Medicine
  • The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review, 2020, Genetics in Medicine
  • Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences, 2021, Genome biology
  • Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications, 2024, Nature Reviews Genetics

Frequent collaborators in their research include:

  • Alison M. Elliott
  • Larry D. Lynd
  • Shelin Adam
  • Nick Dragojlovic
  • Patricia Birch

Jan M. Friedman has published prolifically in several scientific journals, with the most frequent venues being:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • Birth Defects Research
  • Genome Medicine

Best Publications

  • Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  • Structural variation of chromosomes in autism spectrum disorder.

    Christian R. Marshall;Abdul Noor;John B. Vincent;Anath C. Lionel

  • A Reevaluation of Risk of In Utero Exposure to Lithium

    L S Cohen;J M Friedman;J W Jefferson;E M Johnson

  • Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

    Sonja A. Rasmussen;Quanhe Yang;J.M. Friedman

  • Use of Selective Serotonin-Reuptake Inhibitors in Pregnancy and the Risk of Birth Defects

    Sura Alwan;Jennita Reefhuis;Sonja A Rasmussen;Richard S Olney

  • NF1 Gene and Neurofibromatosis 1

    Sonja A. Rasmussen;J. M. Friedman

  • Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

    Tracy Tucker;Marco Marra;Marco Marra;Jan M. Friedman;Jan M. Friedman

  • Evidence for multi‐site closure of the neural tube in humans

    Margot I. Van Allen;Dagmar K. Kalousek;Gerold F. Chernoff;Diana Juriloff

  • Population-based analyses of mortality in trisomy 13 and trisomy 18.

    Sonja A Rasmussen;Lee-Yang C Wong;Quanhe Yang;Kristin M May

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

    E Legius;L Messiaen;P Wolkenstein;P Pancza

  • Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.

    J M Friedman;Jack Arbiser;Jonathan A Epstein;David H Gutmann

  • Diagnostic criteria for schwannomatosis

    M. MacCollin;E. A. Chiocca;D. G. Evans;J. M. Friedman

  • BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer

    Roxana Moslehi;Roxana Moslehi;William Chu;Beth Karlan;David Fishman

  • Maternal treatment with opioid analgesics and risk for birth defects

    Cheryl S. Broussard;Sonja A. Rasmussen;Jennita Reefhuis;Jan M. Friedman

  • Evolving knowledge of the teratogenicity of medications in human pregnancy

    Margaret P. Adam;Janine E. Polifka;J.M. Friedman

  • Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

    J. M. Friedman;Ágnes Baross;Allen D. Delaney;Adrian Ally

  • Association between benign and malignant peripheral nerve sheath tumors in NF1.

    T. Tucker;P. Wolkenstein;J. Revuz;J. Zeller

  • Exome Sequencing and the Management of Neurometabolic Disorders

    Maja Tarailo-Graovac;Maja Tarailo-Graovac;Casper Shyr;Colin J. Ross;Gabriella A. Horvath;Gabriella A. Horvath

  • Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.

    SJ Hamilton;JM Friedman

  • Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects

    Sura Alwan;Jennita Reefhuis;Sonja A. Rasmussen;Richard S. Olney

Frequent Co-Authors

Marco A. Marra
Marco A. Marra University of British Columbia
Sylvie Langlois
Sylvie Langlois University of British Columbia
Harry Joe
Harry Joe University of British Columbia
Alison M. Elliott
Alison M. Elliott London School of Hygiene & Tropical Medicine
D. Gareth Evans
D. Gareth Evans University of Manchester
Sonja A. Rasmussen
Sonja A. Rasmussen Johns Hopkins University School of Medicine
Bartha Maria Knoppers
Bartha Maria Knoppers McGill University Health Centre
Jacques L. Michaud
Jacques L. Michaud University of Montreal
David H. Viskochil
David H. Viskochil University of Utah
Bridget A. Fernandez
Bridget A. Fernandez Memorial University of Newfoundland

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring alternative healthcare degrees online can open doors to numerous fulfilling career paths beyond medicine. For example, many students ask, do you have to take the teas test to get into nursing school? Some top nursing schools now waive traditional admissions exams, helping more students enter this in-demand field.

If you’re interested in healthcare leadership, an accelerated healthcare administration degree online can prepare you for vital roles managing hospitals or clinics, often in less time than traditional programs.

Nurses who wish to advance their practice may consider bridge programs such as adn to fnp, enabling registered nurses with an associate degree to become family nurse practitioners through flexible online study.

Those with an interest in nutrition and wellness can explore the best online food science degree options, leading to careers in dietetics, food safety, and health education. These pathways offer dynamic opportunities for students seeking to make an impact in healthcare online and beyond.

Best Scientists Citing Jan M. Friedman

Trending Scientists