Janet Mann Friedman - Genetic Mutations

Author Information

Dr. Jan M. Friedman is affiliated with the Department of Medical Genetics at the University of British Columbia, located at Children's and Women's Hospital, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada. Dr. Friedman is a distinguished researcher specializing in genetics, with a significant focus on neurofibromatosis, genomic studies, and clinical genetics services.

Research Contributions

Dr. Jan M. Friedman has made substantial contributions to the field of genetics through numerous research publications. In recent years, Dr. Friedman has focused on a variety of topics, including the increase of white matter in adults with neurofibromatosis 1, genetic and genomic studies of cerebral palsy and neuromotor disorders, and the utilization of telehealth in pediatric genome-wide sequencing. Dr. Friedman's work also extends to exploring future trends in clinical genetics services, addressing secondary biogenic amine deficiencies, and understanding the values of parents in the diagnosis of rare childhood genetic diseases. Additionally, Dr. Friedman has contributed to the revision of diagnostic criteria for neurofibromatosis type 1 and Legius syndrome, among other significant research endeavors.

Aliases

Jan M. Friedman is also known by several aliases, including J.m. Friedman, J M Friedman, J. M. Friedman, Jan Friedman, J. M Friedman, Janet Mann Friedman, J. Friedman, Jan M Friedman, and Janet Mann Friedman.

Publication and Citation Metrics

Metric Value
Citation Count 19276
h-index 66
Paper Count 249

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