檢索結果 - Lisa C.A. D’Alessandro

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  1. 1
    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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    Artigo
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  2. 2
    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans 由 Francesco Vetrini, Lisa C.A. D’Alessandro, Zeynep Coban‐Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Neil A. Hanchard, Tamar Harel, Jill A. Rosenfeld, John W. Belmont, James R. Lupski, Yaping Yang

    出版 2016
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    Artigo
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  3. 3
    Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

    Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns 由 Alexander Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid S. Azamian, Annarita Nicosia, Jill A. Rosenfeld, Donna M. Muzny, Lisa C.A. D’Alessandro, Shaine A. Morris, Shalini N. Jhangiani, Dhaval R. Parekh, Wayne Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont

    出版 2017
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    Artigo
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  4. 4
    Genetic architecture of laterality defects revealed by whole exome sequencing

    Genetic architecture of laterality defects revealed by whole exome sequencing 由 Alexander Li, Neil A. Hanchard, Mahshid S. Azamian, Lisa C.A. D’Alessandro, Zeynep Coban‐Akdemir, Keila N. Lopez, Nancy J. Hall, Heather A. Dickerson, Annarita Nicosia, Susan Fernbach, Philip M. Boone, Tomasz Gambin, Ender Karaca, Shen Gu, Bo Yuan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Huyen Dinh, Joy C. Jayaseelan, Donna M. Muzny, Seema R. Lalani, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Stephanie M. Ware, John W. Belmont

    出版 2019
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    Artigo
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  5. 5
    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans 由 Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer, Sebastian S. Gerety, Marc‐Phillip Hitz, Sarah Lindsay, Lisa C.A. D’Alessandro, G. Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Louw, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul‐Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke Lucassen, Anne M. Kelly, Anthony P. Salmon, Frances Bu’Lock, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, J. David Brook, Barbara J.M. Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koenraad Devriendt, David Fitzpatrick, David I. Wilson, Seema Mital, Matthew E. Hurles

    出版 2014
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    Artigo
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  6. 6
    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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    Revisão
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