检索结果 - Sarah Bowdin

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  1. 1
    Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy

    Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy 由 Jacob Mathew, Laura Zahavich, Myriam Lafrenière‐Roula, Judith Wilson, Kristen George, Lee Benson, Sarah Bowdin, Seema Mital

    出版 2017
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  2. 2
    Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

    Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? 由 Anne‐Sophie Ouellette, Jacob Mathew, Ashok Kumar Manickaraj, George Manase, Laura Zahavich, Judith Wilson, Kristen George, Lee Benson, Sarah Bowdin, Seema Mital

    出版 2017
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  3. 3
    A survey of assisted reproductive technology births and imprinting disorders

    A survey of assisted reproductive technology births and imprinting disorders 由 Sarah Bowdin, Cathy Allen, Gail Kirby, Louise Brueton, Masoud Afnan, Christopher L. R. Barratt, Jackson Kirkman‐Brown, Robert F. Harrison, Eamonn R. Maher, William Reardon

    出版 2007
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  4. 4
    Assisted reproductive therapies and imprinting disorders—a preliminary British survey

    Assisted reproductive therapies and imprinting disorders—a preliminary British survey 由 Alastair Sutcliffe, Catherine Peters, Sarah Bowdin, I. Karen Temple, William Reardon, Lisa M Wilson, Jill Clayton‐Smith, L A Brueton, Wendy Bannister, Eamonn R. Maher

    出版 2005
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  5. 5
    Loeys–Dietz syndrome: a primer for diagnosis and management

    Loeys–Dietz syndrome: a primer for diagnosis and management 由 Gretchen MacCarrick, James H. Black, Sarah Bowdin, Ismaı̈l El-Hamamsy, Pamela A. Frischmeyer‐Guerrerio, Anthony L. Guerrerio, Paul D. Sponseller, Bart Loeys, Harry C. Dietz

    出版 2014
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  6. 6
    PhenoTips: Patient Phenotyping Software for Clinical and Research Use

    PhenoTips: Patient Phenotyping Software for Clinical and Research Use 由 Marta Gîrdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M. Boycott, Sébastien Chénier, David Chitayat, Hanna Faghfoury, M. Stephen Meyn, Peter N. Ray, Joyce So, Dimitri J. Stavropoulos, Michael Brudno

    出版 2013
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  7. 7
    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children 由 Courtney E. French, Isabelle Delon, Helen Dolling, Alba Sanchis‐Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo Garcia Branco, Helen V. Firth, David H. Rowitch, F. Lucy Raymond

    出版 2019
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  8. 8
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study 由 Iris Cohn, Tara Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito

    出版 2017
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  9. 9
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome 由 Tahir Atık, Asuman Koparır, Güney Bademci, Joseph Foster, Umut Altunoğlu, Gül Yeşiltepe Mutlu, Sarah Bowdin, Nursel Elçioğlu, Gulsen Akay Tayfun, Sevinç Şahin Atik, Mustafa Özen, Ferda Özkınay, Yasemin Alanay, Hülya Kayserili, Steffen Thiel, Mustafa Tekin

    出版 2015
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  10. 10
    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits

    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits 由 Andrea K. Vaags, Sarah Bowdin, Mary‐Lou Smith, Brigitte Gilbert‐Dussardier, Katja S. Brocke‐Holmefjord, Katia J. Sinopoli, Cindy Gilles, Tove B. Haaland, Catherine Vincent‐Delorme, Emmanuelle Lagrue, Radu Harbuz, Susan Walker, Christian R. Marshall, Gunnar Houge, Vera M. Kalscheuer, Stephen W. Scherer, Berge A. Minassian

    出版 2014
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  11. 11
    Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

    Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect 由 Lisa C.A. D’Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, Dorin Manase, Barbara J.M. Mulder, Lynn Bergin, Herschel Rosenberg, Tapas Mondal, Elaine Gordon, Jane Lougheed, John Smythe, K. Devriendt, Shoumo Bhattacharya, Hugh Watkins, Jamie Bentham, Sarah Bowdin, Matthew E. Hurles, Seema Mital

    出版 2015
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  12. 12
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing 由 Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    出版 2018
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  13. 13
    Reappraisal of Reported Genes for Sudden Arrhythmic Death

    Reappraisal of Reported Genes for Sudden Arrhythmic Death 由 S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa, Gregory Costain, Rebekah Jobling, Eriskay Liston, Seema M. Jamal, Marta Szybowska, Chantal F. Morel, Sarah Bowdin, John Garcia, Melanie Care, Amy C. Sturm, Valeria Novelli, Michael Ackerman, James S. Ware, Ray E. Hershberger, Arthur A.M. Wilde, Michael H. Gollob

    出版 2018
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  14. 14
    The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

    The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease 由 Miriam S. Reuter, Rajiv Chaturvedi, Eriskay Liston, Roozbeh Manshaei, Ritu B. Aul, Sarah Bowdin, Iris Cohn, Meredith Curtis, Priya Dhir, Robin Z. Hayeems, S. Mohsen Hosseini, Reem Khan, Linh Ly, Christian R. Marshall, Luc Mertens, John B. A. Okello, Sérgio L. Pereira, Akshaya Raajkumar, Mike Seed, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Raymond H. Kim, Rebekah Jobling

    出版 2020
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  15. 15
    Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

    Advancing diagnosis and research for rare genetic diseases in Indigenous peoples 由 Gareth Baynam, Daria Julkowska, Sarah Bowdin, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Helen Malherbe, Juergen Reichardt, Laura Arbour, Māui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Nadine R. Caron, Meck Chongo, Yarlalu Thomas, Mary Catherine V. Letinturier, Barend Christiaan Vorster

    出版 2024
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  16. 16
    MKS1 regulates ciliary INPP5E levels in Joubert syndrome

    MKS1 regulates ciliary INPP5E levels in Joubert syndrome 由 Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

    出版 2015
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  17. 17
    Benefits for children with suspected cancer from routine whole-genome sequencing

    Benefits for children with suspected cancer from routine whole-genome sequencing 由 Angus Hodder, Sarah M. Leiter, Jonathan Kennedy, Dilys Addy, Munaza Ahmed, Thankamma Ajithkumar, Kieren Allinson, Phil Ancliff, Shivani Bailey, Gemma Barnard, G.A. Amos Burke, Charlotte Burns, Julian Cano-Flanagan, Jane Chalker, Nicholas Coleman, Danny Cheng, Yasmin Clinch, C Dryden, Sara Ghorashian, Blanche Griffin, Gail Horan, Michael Hubank, Phillippa May, Joanna McDerra, Rajvi Nagrecha, James C. Nicholson, David O’Connor, Vesna Pavasovic, Annelies Quaegebeur, Anupama Rao, Thomas C. Roberts, Sujith Samarasinghe, Iryna Stasevich, John A. Tadross, Claire Trayers, Jamie Trotman, Ajay Vora, James Watkins, Lyn S. Chitty, Sarah Bowdin, Ruth Armstrong, Matthew J. Murray, Catherine Elizabeth Hook, Patrick Tarpey, Aditi Vedi, Jack Bartram, Sam Behjati

    出版 2024
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  18. 18
    Recommendations for the integration of genomics into clinical practice

    Recommendations for the integration of genomics into clinical practice 由 Sarah Bowdin, A Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Björnsson, Miriam G. Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison M. Elliott, Gerald L. Feldman, Ian Glass, Gail E. Herman, Lucia A. Hindorff, Fuki M. Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail P. Jarvik, Raymond H. Kim, Bruce R. Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian R. Marshall, Līvija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia C. Morton, John J. Mulvihill, Sharon E. Plon, Heidi L. Rehm, Amy E. Roberts, Cheryl Shuman, Nancy B. Spinner, Dimitri J. Stavropoulos, Kathleen Valverde, Darrel Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz

    出版 2016
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  19. 19
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test 由 Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    出版 2017
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  20. 20
    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants 由 Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, J. Andrew Whitney, Iris Cohn, Neal Sondheimer, Ryan K. C. Yuen, Brett Trost, Tara Paton, Sérgio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Daniele Merico, Jennifer Howe, Jeffrey R. MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W. L. Sung, Zhuozhi Wang, Rohan Patel, Giovanna Pellecchia, John Wei, Lisa J. Strug, Sherilyn L. Bell, Barbara Kellam, Melanie M. Mahtani, Anne S. Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D. Cohn, Dimitri J. Stavropoulos, Sarah Bowdin, Matthew R. Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter N. Ray, M. Stephen Meyn, Nasim Monfared, S. Mohsen Hosseini, Ann M. Joseph‐George, Fred W. Keeley, R Cook, Marc Fiume, Hin C Lee, Christian R. Marshall, Janet M. Davies, Allison Hazell, Janet A. Buchanan, Michael J. Szego, Stephen W. Scherer

    出版 2018
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