Search Results - Hsiao‐Tuan Chao
- Showing 1 - 20 results of 30
- Go to Next Page
-
1
-
2
-
3
-
4
-
5
-
6
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research by Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M. Boycott, Philippe M. Campeau, Hugo J. Bellen
Published 2017Revisão -
7
Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of<i>MECP2</i>Duplication Syndrome by Minghui Jiang, Ryan T. Ash, Steven Andrew Baker, Bernhard Suter, Andrew Ferguson, Ji-Young Park, Jessica Rudy, Sergey P. Torsky, Hsiao‐Tuan Chao, Huda Y. Zoghbi, Stelios M. Smirnakis
Published 2013Artigo -
8
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy by Wu Chen, Zhao‐Lin Cai, Eugene Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao‐Tuan Chao, Joo Hyun Kim, Jessica Messier, Huda Y. Zoghbi, Jianrong Tang, John W. Swann, Mingshan Xue
Published 2020Artigo -
9
Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress by Sharyl L. Fyffe, Jeffrey L. Neul, Rodney C. Samaco, Hsiao-Tuan Chao, Shay Ben‐Shachar, Paolo Moretti, Bryan E. McGill, Evan H Goulding, Elinor L. Sullivan, Laurence H. Tecott, Huda Y. Zoghbi
Published 2008Artigo -
10
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities by Rodney C. Samaco, Caleigh Mandel‐Brehm, Hsiao-Tuan Chao, Christopher Ward, Sharyl L. Fyffe-Maricich, Jun Ren, Keith Hyland, Christina Thaller, Stephen M. Maricich, Peter Humphreys, John J. Greer, Alan K. Percy, Daniel G. Glaze, Huda Y. Zoghbi, Jeffrey L. Neul
Published 2009Artigo -
11
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes by Hsiao-Tuan Chao, Hongmei Chen, Rodney C. Samaco, Mingshan Xue, Maria H. Chahrour, Jong W. Yoo, Jeffrey L. Neul, Shiaoching Gong, Hui-Chen Lu, Nathaniel Heintz, Marc Ekker, John L.R. Rubenstein, Jeffrey L. Noebels, Christian Rosenmund, Huda Y. Zoghbi
Published 2010Artigo -
12
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy by Hyunglok Chung, Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld, Lindsay C. Burrage, Pengfei Liu, David R. Murdock, Shinya Yamamoto, Michael F. Wangler, Hsiao‐Tuan Chao, Hongyu Long, Li Feng, Carlos A. Bacino, Hugo J. Bellen, Bo Xiao
Published 2020Artigo -
13
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing by David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, Mahim Jain, Gladys Zapata, Carlos A. Bacino, Hsiao‐Tuan Chao, Paolo Moretti, William J. Craigen, Neil A. Hanchard, Brendan Lee
Published 2020Artigo -
14
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing by Shenglan Li, Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J. Craigen, Gary Clark, Seema R. Lalani, Carlos A. Bacino, Keren Machol, Hsiao‐Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer L. Sheppard, M. Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh CS. Nagamani, Zhandong Liu, Christine M. Eng, Brendan Lee, Pengfei Liu
Published 2024Artigo -
15
Identification of novel candidate disease genes from de novo exonic copy number variants by Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Published 2017Artigo -
16
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation by Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Brendan Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao‐Tuan Chao, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine
Published 2020Artigo -
17
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement by Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford
Published 2024Artigo -
18
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases by Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Published 2022Artigo -
19
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes by Yingxi Wang, Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, S. Tracy, Ying‐Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth L. Appelbaum, Titilope M. Akinwe, Rodrigo Starosta Tzovenos, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana G. Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K. Ng, Andrew Emory, Laura B. Metz, Tracie DeLuca, Katherine N. Lyons, Toni M. Sinnwell, Brianne Thomeczek, K.H. Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine Y. King, Christina A. Gurnett, Susan K. Dutcher, Catherine Gooch, Yang Eric Li, Matthew W. Mitchell, Kevin A. Peterson, Amjad Horani, Jill A. Rosenfeld, Weimin Bi, Paweł Stankiewicz, Hsiao‐Tuan Chao, Jennifer E. Posey, Christopher M. Grochowski, Zain Dardas, Erik G. Puffenberger, Christopher E. Pearson, R. Frank Kooy, Dale Annear, A. Micheil Innes, Michael Heinz, Richard D. Head, Robert E. Fulton, Stephan Toutain, Lucinda Antonacci-Fulton, Xiaoxia Cui, Robi D. Mitra, F. Sessions Cole, Julie Neidich, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner
Published 2025Pré-impressão -
20
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome by Julia Wang, Rami Al‐Ouran, Yanhui Hu, Seon‐Young Kim, Ying‐Wooi Wan, Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Aram Comjean, Stephanie E. Mohr, Norbert Perrimon, Zhandong Liu, Hugo J. Bellen, David R. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David Bick, Camille L. Birch, Braden Boone, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen Golas, David Goldstein, Mary “Gracie” G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan Lee, Hane Lee, Paul R. Lee, Shawn Levy
Published 2017Artigo
Search Tools:
Related Subjects
Biology
Gene
Genetics
Phenotype
Medicine
Neuroscience
Computational biology
Genome
Cell biology
Internal medicine
Biochemistry
Bioinformatics
Disease
MECP2
Psychiatry
Receptor
Rett syndrome
Gene expression
Human genome
Neurodevelopmental disorder
Pathology
Allele
Autism
Central nervous system
Copy-number variation
Function (biology)
Gene duplication
Genomics
Intellectual disability
Membrane