This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of British Columbia directory, so their courses and email address may be missing. Find their university profile.
Research
Latest papers
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.
Clinical genetics · 2026
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.
European journal of medical genetics · 2021
Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.
European journal of human genetics : EJHG · 2014
Latest funding
- $180,000
Using advanced genomic and computational approaches to discover and characterize novel genetic variants in neurodevelopmental disorders.
CIHR · 2023 · Supervisor
- $250,000
Strengthening the Healthcare Workforce: Enhancing Genetic Counselling Access and Efficiency
CIHR · 2023 · Co-investigator
- $612,000
Characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.
CIHR · 2020 · Co-investigator
5 publications.
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.
Chiriatti L, Priolo M, Leoni C, Onesimo R, Carvetta M, Parrino M, Tamburrini G, Contaldo I, Russo R, Friedman J, Rogan S, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Radio FC, Mancini C, Tartaglia M, Zampino G
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.
Cook CB, Dragojlovic N, Siemens A, Adam S, du Souich C, van Karnebeek C, Lehman A, Nelson TN, Friedman J, CAUSES Study, GenCOUNSEL Study, Lynd LD, Elliott AM
Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.
Townsend A, Rousseau F, Friedman J, Adam S, Lohn Z, Birch P
Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists.
Morris E, Inglis A, Friedman J, Austin J
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.
Lohn Z, Adam S, Birch P, Townsend A, Friedman J
Using advanced genomic and computational approaches to discover and characterize novel genetic variants in neurodevelopmental disorders.
Principal investigators: Rajan Babu, Indhu Shree
Keywords: Bioinformatics; Long-Read Sequencing; Neurodevelopmental Disorders; Repeat Expansions
Strengthening the Healthcare Workforce: Enhancing Genetic Counselling Access and Efficiency
Principal investigators: Elliott, Alison M; Nuk, Jennifer; Lynd, Larry D
Keywords: Cancer; Genetic Counselling; Genetics; Newborn Screening; Pediatrics; Primary Care
Characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.
Principal investigators: Leavitt, Blair R
Keywords: Antiquitin Gene (Aldh7a1); Electroencephalography; Epilepsy; Epileptic Encephalopathies; Intellectual Disability; Lysine Catabolism Pathway; Mouse Models; Neurodevelopmental Delay; Pyridoxine-Dependent Epilepsy; Seizures
GenCOUNSEL
Principal investigators: Elliott, Alison M; Austin, Jehannine C; Knoppers, Bartha M; Lynd, Larry D
Keywords: Genetic Counselling
Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability
Principal investigators: Friedman, Jan M; Birol, Inanc
Keywords: Bioinformatics; Intellectual Disability; Long-Read Sequencing
Development, characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.
Principal investigators: Leavitt, Blair R
Keywords: Antiquitin (Atq) Gene; Electroencephalography; Epilepsy; Epileptic Encephalopathies; Intellectual Disability; Lysine Catabolism Pathway; Mouse Models; Neurodevelopmental Delay; Pyridoxine-Dependent Epilepsy; Seizures
Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability
Principal investigators: Friedman, Jan M; Birol, Inanc
Keywords: Clinical Bioinformatics; Clinical Genomics; Genetic Testing; Intellectual Disability
Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach
Principal investigators: van Karnebeek, Clara D; Stockler, Sylvia; Wasserman, Wyeth W
Keywords: Discovery; Global Developmental Delay; Inborn Errors Of Metabolism; Intellectual Disability; Knowledge Translation; Metabolomics; Whole Exome Sequencing
Assessing the clinical utility of DECIDE: A novel e-counselling aid for clinical genome-wide sequencing
Principal investigators: Friedman, Jan M
Keywords: Clinical Genome-Wide Sequencing; Genetic Counselling
Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach
Principal investigators: van Karnebeek, Clara D; Stockler, Sylvia; Wasserman, Wyeth W
Keywords: Discovery; Global Developmental Delay; Inborn Errors Of Metabolism; Intellectual Disability; Knowledge Translation; Metabolomics; Whole Exome Sequencing
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Medical Genetics
- Pediatrics
- Psychiatry
- Other
Co-authors at University of British Columbia, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
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