Hakutulokset - Mitzi L. Murray

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  1. 1
    Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome

    Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome Tekijä Peter H. Byers, Mitzi L. Murray

    Julkaistu 2012
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  2. 2
    Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

    Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology Tekijä Peter H. Byers, Mitzi L. Murray

    Julkaistu 2013
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  3. 3
    Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome

    Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome Tekijä Mitzi L. Murray, Melanie Pepin, Suzanne E. Peterson, Peter H. Byers

    Julkaistu 2014
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  4. 4
    Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database

    Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database Tekijä Jamison D. Feramisco, Ruslan I. Sadreyev, Mitzi L. Murray, Nick V. Grishin, Hensin Tsao

    Julkaistu 2009
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  5. 5
    The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

    The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories Tekijä Melanie Pepin, Mitzi L. Murray, S.S. Bailey, Dru Leistritz-Kessler, Ulrike Schwarze, Peter H. Byers

    Julkaistu 2015
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  6. 6
    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms Tekijä Yigit Karasozen, Joshua W. Osbun, Carolina A. Parada, Tina Busald, Philip D. Tatman, Luis F. Gonzalez‐Cuyar, Christopher J. Hale, Diana Alcantara, Mark O’Driscoll, William B. Dobyns, Mitzi L. Murray, Louis J. Kim, Peter H. Byers, Michael O. Dorschner, Manuel Ferreira

    Julkaistu 2019
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  7. 7
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Tekijä Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith

    Julkaistu 2009
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  8. 8
    The genetic basis of DOORS syndrome: an exome-sequencing study

    The genetic basis of DOORS syndrome: an exome-sequencing study Tekijä Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya

    Julkaistu 2013
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  9. 9
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Tekijä Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Virginia A. Hustead, Kristin Mascotti, Regina Schultz, Lavinia Hallam, D. Harold McRae, Andrew G. Nicholson, Robert Newbury, Jane Durham-O'Donnell, G. R. Knight, Usha Kini, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, C. Jones, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith

    Julkaistu 2009
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  10. 10
    Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Actionable exomic incidental findings in 6503 participants: challenges of variant classification Tekijä Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Joseph S Salama, Ragan Hart, Brian H. Shirts, Mitzi L. Murray, Mari Tokita, Carlos J. Gallego, Daniel S. Kim, James T. Bennett, David R. Crosslin, Jane Ranchalis, Kelly L. Jones, Elisabeth A. Rosenthal, Ella R. Jarvik, Andy Itsara, Emily H. Turner, Daniel S. Herman, Jennifer Schleit, Amber Burt, Seema M. Jamal, Jenica Abrudan, Andrew D. Johnson, Laura K. Conlin, Matthew C. Dulik, Avni Santani, Danielle R. Metterville, Melissa Kelly, Ann Katherine M. Foreman, Kristy Lee, Kent D. Taylor, Xiuqing Guo, Kristy Crooks, Lesli A. Kiedrowski, Leslie J. Raffel, Ora Gordon, Kalotina Machini, Robert J. Desnick, Leslie G. Biesecker, Steven A. Lubitz, Surabhi Mulchandani, Gregory M. Cooper, Steven Joffe, C. Sue Richards, Yaoping Yang, Jerome I. Rotter, Stephen S. Rich, Christopher J. O’Donnell, Jonathan S. Berg, Nancy B. Spinner, James P. Evans, Stephanie M. Fullerton, Kathleen A. Leppig, Robin L. Bennett, Thomas D. Bird, Virginia P. Sybert, William M. Grady, Holly K. Tabor, Jerry H. Kim, Michael J. Bamshad, Benjamin S. Wilfond, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Heidi L. Rehm, Debbie A. Nickerson, Gail P. Jarvik

    Julkaistu 2015
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  11. 11
    Genomic data in the All of Us Research Program

    Genomic data in the All of Us Research Program Tekijä Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura, Robert J. Carroll, Anjene Musick, Jodell E. Linder, I. King Jordan, Shashwat Deepali Nagar, Shivam Sharma, Robert Meller, Melissa Basford, Eric Boerwinkle, Mine Cicek, Kimberly F. Doheny, Evan E. Eichler, Stacey Gabriel, Richard A. Gibbs, David Glazer, Paul A. Harris, Gail P. Jarvik, Anthony Philippakis, Heidi L. Rehm, Dan M. Roden, Stephen N. Thibodeau, Scott Topper, Ashley L. Blegen, Samantha J. Wirkus, Victoria A. Wagner, Jeffrey G. Meyer, Mine Cicek, Donna M. Muzny, Eric Venner, Michelle Mawhinney, Sean Griffith, Elvin Hsu, Hua Ling, Marcia K. Adams, Kimberly Walker, Taobo Hu, HarshaVardhan Doddapaneni, Christie Kovar, Mullai Murugan, Shannon Dugan, Ziad Khan, Eric Boerwinkle, Niall J. Lennon, Christina Austin‐Tse, Eric Banks, Michael Gatzen, Namrata Gupta, Emma Henricks, Katie Larsson, Sheli McDonough, Steven M. Harrison, Christopher Kachulis, Matthew S. Lebo, Cynthia L. Neben, Marcie Steeves, Alicia Y. Zhou, Joshua D. Smith, Christian D. Frazar, Colleen Davis, Karynne Patterson, Marsha M. Wheeler, Sean McGee, Christina M. Lockwood, Brian H. Shirts, Colin C. Pritchard, Mitzi L. Murray, Valeria Vasta, Dru F. Leistritz, M Richardson, Jillian G. Buchan, Aparna Radhakrishnan, Niklas Krumm, Brenna Ehmen, Sophie Schwartz, M. Morgan T. Aster, Kristian Cibulskis, Andrea Haessly, Rebecca Asch, Aurora Cremer, Kylee Degatano, Akum Shergill, Laura D. Gauthier, Samuel K. Lee, Aaron Hatcher, George Grant, Genevieve R. Brandt, Miguel Covarrubias, Eric Banks, Ashley Able, Ashley E. Green, Robert J. Carroll, Jennifer Zhang, Henry Robert Condon, Y. Wang, Moira K. Dillon

    Julkaistu 2024
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