Výsledky vyhledávání - Colleen Davis

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    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Autor Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad R. Haldeman‐Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Małgorzata J.M. Nowaczyk, Jolien S. Klein Wassink‐Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

    Vydáno 2015
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    Artigo
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    Genomic data in the All of Us Research Program Autor 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

    Vydáno 2024
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    Variant-specific inflation factors for assessing population stratification at the phenotypic variance level Autor Tamar Sofer, Xiuwen Zheng, Cecelia Laurie, Stephanie M. Gogarten, Jennifer A. Brody, Matthew P. Conomos, Joshua C. Bis, Timothy A. Thornton, Adam A. Szpiro, Jeffrey R. O’Connell, Ethan M. Lange, Yan Gao, L. Adrienne Cupples, Bruce M. Psaty, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo-Juen Chen, Wei‐Min Chen, Yii‐Der Ida Chen, Michael H. Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis

    Vydáno 2021
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    Artigo
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    Genome sequencing unveils a regulatory landscape of platelet reactivity Autor Ali R. Keramati, Ming‐Huei Chen, Benjamin A.T. Rodriguez, Lisa R. Yanek, Arunoday Bhan, Brady Gaynor, Kathleen A. Ryan, Jennifer A. Brody, Xue Zhong, Qiang Wei, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Alvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Kristin Ardlie, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Lucas Barwick, Terri Beaty, Gerald J. Beck, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Donald W. Bowden, Russell Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban G. Burchard, Carlos D. Bustamante, Erin Buth, Brian E. Cade, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi‐Cheng Chang, Daniel I. Chasman, Sameer Chavan, Bo-Juen Chen, Wei‐Min Chen, Y Eugene Chen, Michael Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Ren‐Hua Chung, Clary B. Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul S. de Vries

    Vydáno 2021
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    Artigo
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    Centers for Mendelian Genomics: A decade of facilitating gene discovery Autor Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci

    Vydáno 2022
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    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions Autor Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman

    Vydáno 2023
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