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

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

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

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Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences by Readman Chiu, Indhu-Shree Rajan-Babu, Jan M. Friedman, Inanc Birol

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Alterations in brain morphology by MRI in adults with neurofibromatosis 1 by Su Wang, Victor-Felix Mautner, Ralph Buchert, Stephane Flibotte, Per Suppa, Jan M. Friedman, Manraj K. S. Heran

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Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1 by Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M. Friedman

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A personalized genomic results e-booklet, co-designed and pilot-tested by families by Julia Handra, Colleen Guimond, Isabel Jordan, Brenda Lenahan, Kelsey Ohs, Rhea Beauchesne, Shelin Adam, Jan M. Friedman, Patricia Birch

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Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1. by Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett

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

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The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue. by Richard A Moore, René L Warren, J Douglas Freeman, Julia A Gustavsen, Caroline Chénard, Jan M Friedman, Curtis A Suttle, Yongjun Zhao, Robert A Holt

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Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions by Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability by Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats by Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

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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 by Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study by Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

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