検索結果 - Gayle Patel

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  1. 1
    A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

    A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes 著者: Saundra S. Buys, John F. Sandbach, Amanda Gammon, Gayle Patel, John Kidd, Krystal Brown, Lavania Sharma, Jennifer Saam, Johnathan M. Lancaster, Mary B. Daly

    出版事項 2017
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    Artigo
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  2. 2
    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes 著者: Marwan Shinawi, Christian P. Schaaf, Samarth Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan C. Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna Immken, Gayle Patel, Jennifer R. German, Arthur L. Beaudet, Paweł Stankiewicz

    出版事項 2009
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    Artigo
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  3. 3
    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping 著者: Ayman W. El‐Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna Immken, Gayle Patel, Mary‐Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung‐Hae Kang, Ankita Patel, Fernando Scaglia, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    出版事項 2009
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    Artigo
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  4. 4
    Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

    Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes 著者: Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester Brown, Jesper Graakjær, Anne‐Bine Skytte, Angela Maria Vianna‐Morgante, Ana Cristina Victorino Krepischi, Gayle Patel, LaDonna Immken, Kyrieckos A. Aleck, Cynthia Lim, S.W. Cheung, Carla Rosenberg, Nicholas Katsanis, James R. Lupski

    出版事項 2014
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    Artigo
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  5. 5
    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders 著者: Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung-Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz

    出版事項 2012
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    Artigo
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  6. 6
    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes 著者: Tyler Landrith, Bing Li, Ashley Cass, Blair R. Conner, Holly LaDuca, Danielle McKenna, Kara N. Maxwell, Susan M. Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan Depas, Shraddha Gaonkar, Sara Pirzadeh‐Miller, Rebekah C. Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara J. Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda Ganzak, Sitao Wu, Huy Gia Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao‐Mei Lu, Brigette Tippin‐Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam

    出版事項 2020
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    Artigo
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