Výsledky vyhledávání - Pınar Bayrak‐Toydemir

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  1. 1
    Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

    Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia Autor Carmelo Bernabéu, Pınar Bayrak‐Toydemir, Jamie McDonald, Michelle Letarte

    Vydáno 2020
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  2. 2
    Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

    Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians Autor Pinar Bayrak‐Toydemir, Rong Mao, Susan O. Lewin, Jamie McDonald

    Vydáno 2004
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  3. 3
    Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

    Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2) Autor Jamie McDonald, Pınar Bayrak‐Toydemir, Desiree DeMille, Whitney Wooderchak‐Donahue, Kevin J. Whitehead

    Vydáno 2020
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  4. 4
    Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenes

    Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenes Autor Cecily P. Vaughn, Jorge Robles, Jeffrey Swensen, Christine E. Miller, Elaine Lyon, Rong Mao, Pınar Bayrak‐Toydemir, Wade S. Samowitz

    Vydáno 2010
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  5. 5
    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era Autor Jamie McDonald, Whitney Wooderchak‐Donahue, Chad VanSant Webb, Kevin J. Whitehead, David A. Stevenson, Pınar Bayrak‐Toydemir

    Vydáno 2015
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  6. 6
    NALCN channelopathies

    NALCN channelopathies Autor Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda

    Vydáno 2016
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  7. 7
    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) Autor Lora Jh Bean, Birgit Funke, Colleen M. Carlston, Jennifer Gannon, Sibel Kantarci, Bryan L. Krock, Shulin Zhang, Pınar Bayrak‐Toydemir

    Vydáno 2019
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  8. 8
    Genetic Variants Associated with Port-Wine Stains

    Genetic Variants Associated with Port-Wine Stains Autor Alice Frigerio, Karol Wright, Whitney Wooderchak‐Donahue, Oon Tian Tan, Rebecca L. Margraf, David A. Stevenson, J. Fredrik Grimmer, Pınar Bayrak‐Toydemir

    Vydáno 2015
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  9. 9
    Pathogenic variants that alter protein code often disrupt splicing

    Pathogenic variants that alter protein code often disrupt splicing Autor Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine, Jing Wang, Charlston Bulacan, John Yang, Pınar Bayrak‐Toydemir, Jamie McDonald, William G. Fairbrother

    Vydáno 2017
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  10. 10
    ACMG clinical laboratory standards for next-generation sequencing

    ACMG clinical laboratory standards for next-generation sequencing Autor Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir, Jonathan S. Berg, Kerry K. Brown, Joshua L. Deignan, Michael J. Friez, Birgit Funke, Madhuri Hegde, Elaine Lyon

    Vydáno 2013
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  11. 11
    A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

    A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome Autor Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak‐Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David Viskochil, John C. Carey, Michael J. Bamshad

    Vydáno 2006
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  12. 12
    Effective variant filtering and expected candidate variant yield in studies of rare human disease

    Effective variant filtering and expected candidate variant yield in studies of rare human disease Autor Brent S. Pedersen, Joe Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani‐Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pınar Bayrak‐Toydemir, Aaron R. Quinlan

    Vydáno 2021
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  13. 13
    Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia

    Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Autor Aditya Bharatha, Marie E. Faughnan, Helen Kim, Tony Pourmohamad, Timo Krings, Pınar Bayrak‐Toydemir, Ludmila Pawlikowska, Charles E. McCulloch, Michael T. Lawton, Christopher F. Dowd, William L. Young, Karel G. terBrugge

    Vydáno 2011
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  14. 14
    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia Autor Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak‐Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock

    Vydáno 2015
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  15. 15
    Identification of two novel non-coding variants in Diamond-Blackfan Anemia Syndrome patients by whole genome sequencing

    Identification of two novel non-coding variants in Diamond-Blackfan Anemia Syndrome patients by whole genome sequencing Autor Ting Wen, Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher, Ashley Andrews, Thomas J. Nicholas, Alexander Chapin, Elaine M. Fan, Lorenzo D. Botto, Pınar Bayrak‐Toydemir, Rong Mao, Jessica Meznarich

    Vydáno 2025
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  16. 16
    Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

    Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective Autor Madhuri Hegde, Sherri J. Bale, Pınar Bayrak‐Toydemir, Jane Whitney Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M. Lubin, Christine E. Miller, Lainie Friedman Ross, Paul G. Rothberg, Alice Tanner, Patrik Vitazka, Rong Mao

    Vydáno 2015
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  17. 17
    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation Autor Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer, Gresham T. Richter, Marcie Steeves, Angela E. Lin, David A. Stevenson, Pınar Bayrak‐Toydemir

    Vydáno 2018
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  18. 18
    EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

    EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis Autor D. Hunter Best, Kelli Sumner, Eric D. Austin, Wendy K. Chung, Lynette Brown, Alain Borczuk, Erika B. Rosenzweig, Pınar Bayrak‐Toydemir, Rong Mao, Barbara C. Cahill, Henry D. Tazelaar, Kevin O. Leslie, Anna R. Hemnes, Ivan M. Robbins, C. Gregory Elliott

    Vydáno 2013
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  19. 19
    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia Autor Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa, Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabéu, David A. Stevenson, James Runo, Pınar Bayrak‐Toydemir

    Vydáno 2013
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  20. 20
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures Autor Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    Vydáno 2019
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