Hsiao-Tuan Chao

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 23

Top Topics

Dna Methylation

Intellectual Disability

Drosophila Melanogaster

Top Venues

bioRxiv : the preprint server for biology

American journal of medical genetics. Part A

Nature communications

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V 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 L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V 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 L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V 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 L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V 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 L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, Ming Yin Lun, Christopher M Grochowski, Medhat Mahmoud, Hsiao-Tuan Chao, Jill A Rosenfeld, Pengfei Liu, Jakob Schuy, Adam Ameur, null null, James Paul Hwang, Fritz J Sedlazeck, Weimin Bi, Ronit Marom, Ann Nordgren, Claudia M B Carvalho, Anna Lindstrand
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv : the preprint server for health sciences (2024)
Ashley N Hayden, Katie L Brandel, Paul R Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W Pietryk, Elizabeth S Gaytan, Connie W Ni, Hsiao-Tuan Chao, Jill Anne Rosenfeld, Rachel N Arey
Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv : the preprint server for biology (2024)
Melina L Corriveau, Sabrina I Amaya, Mary Clare Koebel, Vanesa C Lerma, Sydney L Michener, Alicia Turner, Rebecca J Schultz, Elaine S Seto, Gloria E Diaz-Medina, William J Craigen, John W Swann, Mingshan Xue, Hsiao-Tuan Chao
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. American journal of medical genetics. Part A (2023)
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé- Pichon, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv : the preprint server for health sciences (2023)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Miranda Galey, Joy Goffena, Sophia B Gibson, Talia J Allan, Denis M Nyaga, Nico Lieffering, Heather C Mefford, Emily V 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 L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Monika Weisz Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette Grant Sadleir, Danny E Miller, Ingrid Eileen Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv : the preprint server for health sciences (2023)
Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Richard A Lewis, Yuezhen Lin, Marcela F Astudillo, Jill A Rosenfeld, Alyssa A Tran, James B Gibson, null null, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. American journal of medical genetics. Part A 188 (6) (2022)
Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C Swanson, Christelle Moufawad El Achkar, John Schreiber, Grace E VanNoy, Emily O'Heir, Anne H O'Donnell-Luria, Richard Alan Lewis, Pilar Magoulas, Alyssa Tran, Mahshid S Azamian, Hsiao-Tuan Chao, Lisa Pham, Rodney C Samaco, Sarah Elsea, Erin Thorpe, Akanchha Kesari, Denise Perry, Brendan Lee, Seema R Lalani, Jill Anne Rosenfeld, Heather E Olson, Lindsay C Burrage, null null
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American journal of medical genetics. Part A 188 (12) (2022)
Ajay X Thomas, Nichole Link, Laurie A Robak, Gail Demmler-Harrison, Emily C Pao, Audrey E Squire, Savannah Michels, Julie S Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C Parks, Elliott H Sherr, Mais O Hashem, Sateesh Maddirevula, Fowzan Sami Alkuraya, Isphana A F Contractar, Jennifer E Neil, Christopher A Walsh, Hugo J Bellen, Hsiao-Tuan Chao, Robin D Clark, Ghayda M Mirzaa
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Annals of clinical and translational neurology 9 (8) (2022)
Cole A Deisseroth, Vanesa C Lerma, Christina L Magyar, Jessica Mae Pfliger, Aarushi Nayak, Nathan D Bliss, Ashley W LeMaire, Vinodh Narayanan, Christopher Balak, Ginevra Zanni, Enza Maria Valente, Enrico Bertini, Paul J Benke, Michael F Wangler, Hsiao-Tuan Chao
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Annals of neurology 92 (1) (2022)
Wu Chen, Zhao-Lin Cai, Eugene S Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao-Tuan Chao, Joo Hyun Kim, Jessica E Messier, Huda Yaya Zoghbi, Jianrong Tang, John W Swann, Mingshan Xue
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. eLife 9 (2020)
Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill Anne Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-Khetarpal, Mauricio R Delgado, Louanne Hudgins, Ian Krantz, David Rodriguez-Buritica, Patricia G Wheeler, Lihadh Al-Gazali, Aisha Mohamed Saeed Mohamed Al Shamsi, Natalia Gomez-Ospina, Hsiao-Tuan Chao, Ghayda M Mirzaa, Angela E Scheuerle, Mary K Kukolich, Fernando Scaglia, Christine Eng, Helen Rankin Willsey, Michael C Braun, Dolores J Lamb, Rachel K Miller, Mir Reza Bekheirnia
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Maureen Handoko, Lisa T Emrick, Jill A Rosenfeld, Xia Wang, Alyssa A Tran, Alicia Turner, John W Belmont, null null, Brendan H Lee, Carlos A Bacino, Hsiao-Tuan Chao
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. American journal of medical genetics. Part A 179 (3) (2018)