Rezultati pretrage - Shelin Adam

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  1. 1
    Incidental Findings from Clinical Genome‐Wide Sequencing: A Review

    Incidental Findings from Clinical Genome‐Wide Sequencing: A Review od Zoe Lohn, Shelin Adam, Patricia Birch, Jan M. Friedman

    Izdano 2013
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  2. 2
    Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

    Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard od Anne Townsend, Shelin Adam, Patricia Birch, Jan M. Friedman

    Izdano 2013
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  3. 3
    The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

    The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review od Nick Dragojlovic, Kennedy Borle, Nicola Kopac, Ursula Ellis, Patricia Birch, Shelin Adam, Jan M. Friedman, Amy Nisselle, Alison M. Elliott, Larry D. Lynd, Nick Dragojlovic, Patricia Birch, Shelin Adam, Jan M. Friedman, Alison M. Elliott, Larry D. Lynd

    Izdano 2020
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  4. 4
    DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing

    DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing od Patricia Birch, Shelin Adam, Nick Bansback, Rachel R. Coe, James Hicklin, Anna Lehman, K. C. Li, Jan M. Friedman

    Izdano 2016
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  5. 5
    The Psychological Consequences of Predictive Testing for Huntington’s Disease

    The Psychological Consequences of Predictive Testing for Huntington’s Disease od Sandi Wiggins, Patti Whyte, Marlene J. Huggins, Shelin Adam, Jane Theilmann, Maurice Bloch, Samuel B. Sheps, Martin T. Schechter, Michael R. Hayden

    Izdano 1992
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  6. 6
    Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

    Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases od Erika Kleiderman, Bartha Maria Knoppers, Conrad V. Fernandez, Kym M. Boycott, Gail Ouellette, Durhane Wong‐Rieger, Shelin Adam, Julie Richer, Denise Avard

    Izdano 2013
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  7. 7
    Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

    Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. od Shelin Adam, S Wiggins, P Whyte, Maurice Bloch, M. H. K. Shokeir, Hubert C. Soltan, Wendy S. Meschino, Anne Summers, Oksana Suchowersky, John P. Welch

    Izdano 1993
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  8. 8
    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study od Nick Dragojlovic, Alison M. Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Christèle du Souich, Jan M. Friedman, Larry D. Lynd

    Izdano 2018
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  9. 9
    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome od Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross, Shelin Adam, Yaoqing Shen, Shing H. Zhan, Casper Shyr, Gabriella Horváth, Mohnish Suri, Alan Fryer, Steven J.M. Jones, Jan M. Friedman

    Izdano 2014
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  10. 10
    The stepwise process of integrating a genetic counsellor into primary care

    The stepwise process of integrating a genetic counsellor into primary care od Caitlin Slomp, Emily Morris, Bartha Maria Knoppers, Larry D. Lynd, Alivia Dey, Shelin Adam, Nick Bansback, Patricia Birch, Lorne A. Clarke, Nick Dragojlovic, Jan M. Friedman, Deborah Lambert, Daryl Pullman, Alice Virani, Wyeth W. Wasserman, Ma’n H. Zawati, Morgan Price, Alison M. Elliott, Jehannine Austin

    Izdano 2022
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  11. 11
    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders od Nick Dragojlovic, Clara van Karnebeek, Aisha Ghani, Dallas Genereaux, Ellen Kim, Patricia Birch, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M. Elliott, Anna Lehman, Larry D. Lynd, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Alison M. Elliott, Jan M. Friedman, Larry D. Lynd

    Izdano 2019
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  12. 12
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy od Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Izdano 2017
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  13. 13
    FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

    FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project od Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, François Bernier, Michael Brudno, Bartha Maria Knoppers, Janet Marcadier, David A. Dyment, Shelin Adam, Dennis E. Bulman, Steven J.M. Jones, Denise Avard, Minh Thu Nguyen, François Rousseau, Christian R. Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott

    Izdano 2014
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  14. 14
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists od Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    Izdano 2015
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  15. 15
    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy od Michelle Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric Toyota, Cyrus Boelman, Linda Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce Björnson, Gabriella Horváth, Elena Lopez‐Rangel, Clara van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary Connolly, Matthew J. Farrer

    Izdano 2019
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  16. 16
    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions od Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, Patricia Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, İnanç Birol, Jan M. Friedman

    Izdano 2021
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  17. 17
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy od Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Izdano 2017
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  18. 18
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders od Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Izdano 2017
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