Resultados da busca - Christina Austin‐Tse
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The zebrafish <i>foxj1a</i> transcription factor regulates cilia function in response to injury and epithelial stretch por Nathan E. Hellman, Yan Liu, Erin Merkel, Christina Austin‐Tse, Stéphanie Le Corre, David R. Beier, Zhaoxia Sun, Neeraj Sharma, Bradley K. Yoder, Iain A. Drummond
Publicado em 2010Artigo -
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The Apical Complex Couples Cell Fate and Cell Survival to Cerebral Cortical Development por Seonhee Kim, Maria K. Lehtinen, Alessandro Sessa, Mauro W. Zappaterra, Seo-Hee Cho, Dilenny M. Gonzalez, Brigid Boggan, Christina Austin‐Tse, Jan Wijnholds, Michael J. Gambello, Jarema Malicki, Anthony S. LaMantia, Vania Broccoli, Christopher A. Walsh
Publicado em 2010Artigo -
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Mutation mapping and identification by whole-genome sequencing por Ignaty Leshchiner, Kristen Alexa, Peter B. Kelsey, Ivan Adzhubei, Christina Austin‐Tse, Jeffrey D. Cooney, Heidi Anderson, Matthew J. King, Rolf W. Stottmann, Maija Garnaas, Seungshin Ha, Iain A. Drummond, Barry H. Paw, Trista E. North, David R. Beier, Wolfram Goessling, Shamil Sunyaev
Publicado em 2012Artigo -
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Best practices for the interpretation and reporting of clinical whole genome sequencing por Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm
Publicado em 2022Revisão -
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<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics por Lynn Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia, Emily O’Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael W. Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O’Leary, Alysia Kern Lovgren, Lawrence Babb, Christina Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria
Publicado em 2022Artigo -
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms por Jennifer R. Panizzi, Anita Becker-Heck, Victoria Castleman, Dalal A. Al-Mutairi, Yan Liu, Niki T. Loges, Narendra Pathak, Christina Austin‐Tse, Eamonn Sheridan, Miriam Schmidts, Heike Olbrich, Claudius Werner, Karsten Häffner, Nathan E. Hellman, Rahul Chodhari, Amar Gupta, Albrecht Kramer-Zucker, Felix Olale, Rebecca D. Burdine, Alexander F. Schier, Christopher O’Callaghan, Eddie M.K. Chung, Richard Reinhardt, Hannah M. Mitchison, Stephen M. King, Heymut Omran, Iain A. Drummond
Publicado em 2012Artigo -
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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequenci... por Christopher M. Haggerty, Cynthia A. James, Hugh Calkins, Crystal Tichnell, Joseph B. Leader, Dustin N. Hartzel, Christopher D. Nevius, Sarah A. Pendergrass, Thomas N. Person, M. Schwartz, Marylyn D. Ritchie, David J. Carey, David H. Ledbetter, Marc S. Williams, Frederick E. Dewey, Alexander Lopez, John S. Penn, John D. Overton, Jeffrey G. Reid, Matthew S. Lebo, Heather Mason‐Suares, Christina Austin‐Tse, Heidi L. Rehm, Brian P. Delisle, Daniel Makowski, Vishal C. Mehra, Michael F. Murray, Brandon K. Fornwalt
Publicado em 2017Artigo -
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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases por Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei‐Owusu, Lynn Pais, Emily O’Heir, Christina Austin‐Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Göknur Haliloğlu, Eric A. Pierce, Emily Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Éric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell‐Luria
Publicado em 2025Artigo -
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population por Victor Nauffal, Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia Weber Hall, Lu‐Chen Weng, Jennifer L. Halford, Christina Austin‐Tse, Christopher M. Haggerty, Stephanie Harris, Eugene Wong, Álvaro Alonso, Dan E. Arking, Emelia J. Benjamin, Eric Boerwinkle, Yuan‐I Min, Adolfo Correa, Brandon K. Fornwalt, Susan R. Heckbert, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Kenneth Rice, Namrata Gupta, Thomas W. Blackwell, Braxton D. Mitchell, Alanna C. Morrison, Bruce M. Psaty, Wendy S. Post, Susan Redline, Heidi L. Rehm, Stephen S. Rich, Jerome I. Rotter, Elsayed Z. Soliman, Nona Sotoodehnia, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Publicado em 2022Artigo -
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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources por Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm
Publicado em 2022Artigo -
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia por Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala, Renée M. Gilberti, Heon Yung Gee, Nathan E. Hellman, Narendra Pathak, Yan Liu, Jennifer R. Panizzi, Ramila S. Patel‐King, Douglas Tritschler, Raqual Bower, Eileen O’Toole, Jonathan D. Porath, Toby W. Hurd, Moumita Chaki, Katrina A. Diaz, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Daniela A. Braun, Markus Schueler, Rannar Airik, Edgar A. Otto, Margaret W. Leigh, Peadar G. Noone, Johnny L. Carson, Stephanie D. Davis, Jessica E. Pittman, Thomas W. Ferkol, Jeffrey J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Sharon Dell, Margaret Rosenfeld, Carlos Milla, Niki T. Loges, Heymut Omran, Mary E. Porter, Stephen M. King, Michael R. Knowles, Iain A. Drummond, Friedhelm Hildebrandt
Publicado em 2013Artigo -
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies por Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina Austin‐Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon‐Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski
Publicado em 2023Artigo -
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease por Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria
Publicado em 2024Artigo -
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project por Sarah L. Stenton, Melanie O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei‐Owusu, Lynn Pais, Jillian Serrano, Moriel Singer‐Berk, Ben Weisburd, Michael W. Wilson, Christina Austin‐Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O.B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, M. Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda M. Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell‐Luria
Publicado em 2024Artigo -
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Genomic data in the All of Us Research Program por 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
Publicado em 2024Artigo -
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Centers for Mendelian Genomics: A decade of facilitating gene discovery por 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
Publicado em 2022Revisão -
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death por Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville
Publicado em 2023Artigo -
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Beyond the exome: What’s next in diagnostic testing for Mendelian conditions por 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
Publicado em 2023Revisão
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Assuntos relacionados
Biology
Genetics
Gene
Medicine
Genome
Computational biology
Exome
Exome sequencing
Phenotype
Bioinformatics
Computer science
Cell biology
Cilium
Disease
Mutation
Pathology
Zebrafish
DNA sequencing
Data science
Genomics
Internal medicine
Mendelian inheritance
Motile cilium
Genetic testing
Law
Microtubule
Political science
1000 Genomes Project
Alternative medicine
Botany