检索结果 - Patrick Yap

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  1. 1
    Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

    Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology 由 Peter G. Farlie, Naomi L. Baker, Patrick Yap, Tiong Yang Tan

    出版 2016
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  2. 2
    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review 由 Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan

    出版 2020
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  3. 3
    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions 由 Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron Robinson, Ivan Macciocca, Simon Sadedin, Katrina M. Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

    出版 2017
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  4. 4
    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders 由 Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito‐Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White

    出版 2016
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  5. 5
    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” 由 Chae Syng Lee, He Fu, Nissan Vida Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Carlo Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover‐Fong, Nara Sobreira, Richard M. Pauli, Carlos A. Bacino, Deborah Krakow, Jillian S. Parboosingh, Patrick Yap, Ariana Kariminejad, Marie McDonald, Mariana Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti‐Furga, James T. Lu, D.H. Cohn, Marco Tartaglia, Brendan Lee, Dieter P. Reinhardt, Philippe M. Campeau

    出版 2017
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  6. 6
    Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

    Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer 由 Ben Lawrence, Cherie Blenkiron, Kate Parker, Peter Tsai, Sandra Fitzgerald, Paula Shields, Tamsin J. Robb, Mee Ling Yeong, Nicole Kramer, Sarah James, Michael A. Black, Vicky Fan, Nooriyah Poonawala-Lohani, Patrick Yap, Esther Coats, Braden J. Woodhouse, Reena Ramsaroop, Masato Yozu, Bridget A. Robinson, Kimiora Henare, Jonathan Koea, Peter Johnston, Richard Carroll, Saxon Connor, Helen Morrin, Marianne S. Elston, Christopher Jackson, Papaarangi Reid, John A. Windsor, Andrew MacCormick, Richard Babor, Adam Bartlett, Dragan Damianovich, Nicholas Knowlton, Sean M. Grimmond, Michael Findlay, Cristin G. Print

    出版 2018
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  7. 7
    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants 由 Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen F. Macnamara, Jennifer L. Murphy, Elizabeth M. McCormick, Hákon Hákonarson, Marni J. Falk, Dong Li, Patrick R. Blackburn, Eric W. Klee, Dusica Babovic‐Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina G. Kant, Bertrand Isidor, Benjamin Cogné, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff‐Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A. Arboleda, Ruth Newbury‐Ecob

    出版 2018
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  8. 8
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder 由 Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    出版 2018
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