Publications by authors named "Jan Friedman"

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Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jan M Friedman

Am J Med Genet A· December 2025

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Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape.
Whiwon Lee, Joyce Yan, Katharine Fooks, Melanie Barwick, Mark Dobrow, Jan M Friedman

Genet Med· December 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Jan M Friedman

Am J Hum Genet· October 2025

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ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.
Sila Rogan, Anthony Gador, Evelyn Carroll, Jan M Friedman

Am J Med Genet A· October 2025

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Systematic Review and Meta-Analysis: Acetaminophen Use During Pregnancy and the Risk of Neurodevelopmental Disorders in Childhood.
Anick Bérard, Judith Cottin, Lisiane F Leal, Cyndie Picot, Justine Pleau, Jan M Friedman

J Am Acad Child Adolesc Psychiatry· October 2025

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Commentary on haploinsufficiency associated with -related global developmental delay and distinctive facial features without neuroregression.
Tony Yammine, Sandra Mercier, Céline Poirsier, Nathalie Bednarek, Christine Clavel, Jan M Friedman

J Med Genet· September 2025

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Putting control into parents' hands: Parent experiences with a genomic results e-booklet.
Shelin Adam, Patricia Gombas, Michelle Demos, Cyrus Boelman, Mary B Connolly, Jan M Friedman

J Genet Couns· August 2025

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Immune Dysregulation in a Child With SOD1-Related Neurological Disease.
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman

Am J Med Genet A· April 2025

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Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.
Jan M Friedman

NPJ Genom Med· December 2024

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Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Patricia Birch, Rhea Beauchesne, Nick Bansback, Cyrus Boelman, Mary Connolly, Jan M Friedman

Genet Med· September 2024

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
Guylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Jan M Friedman

BMJ Open· September 2024

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Is it time to re-think how we look for teratogenic effects in exposure cohort studies?
Jan M Friedman

Paediatr Perinat Epidemiol· August 2024

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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A Eberle, Jan M Friedman

Nat Rev Genet· July 2024

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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.
Deirdre Weymann, John Buckell, Patrick Fahr, Rosalie Loewen, Morgan Ehman, Jan M Friedman

JAMA Netw Open· July 2024

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A comprehensive tandem repeat catalog of the human genome.
Readman Chiu, Indhu-Shree Rajan-Babu, Jan M Friedman, Inanc Birol

medRxiv· June 2024

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Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Dean A Regier, Rosalie Loewen, Brandon Chan, Morgan Ehman, Samantha Pollard, Jan M Friedman

Genet Med· April 2024

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Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Jan M Friedman, Yvonne Bombard, Bruce Carleton, Amalia M Issa, Bartha Knoppers

Genet Med· February 2024

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Bob Brent: Medical expert, expert medical witness, and expert on medical expert witnessing.
Jan M Friedman

Birth Defects Res· August 2023

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Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis.
Nick Dragojlovic, Kennedy Borle, Nicola Kopac, Amy Nisselle, Jennifer Nuk, Jan M Friedman

Curr Oncol· July 2023

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COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis.
Jineta Banerjee, Jan M Friedman, Laura J Klesse, Kaleb H Yohay, Justin T Jordan

Genet Med· February 2023

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Jan M Friedman

Genet Med· September 2022

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Jan M Friedman

Genome Med· August 2022

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Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.
Vasiliki Rahimzadeh, Jan M Friedman, Guido de Wert, Bartha M Knoppers

Front Genet· July 2022

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Linked-read sequencing for detecting short tandem repeat expansions.
Readman Chiu, Indhu-Shree Rajan-Babu, Inanc Birol, Jan M Friedman

Sci Rep· June 2022

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