Zobrazeno 1 - 10
of 210
pro vyhledávání: '"Michael E, Talkowski"'
Autor:
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-26 (2024)
Abstract Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification
Externí odkaz:
https://doaj.org/article/1d31f2afe5204250bcedb785593a825f
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, wit
Externí odkaz:
https://doaj.org/article/49c0caa0e9b74228a74623d46ebdae00
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Hannah L. Harris, Huiya Gu, Moshe Olshansky, Ailun Wang, Irene Farabella, Yossi Eliaz, Achyuth Kalluchi, Akshay Krishna, Mozes Jacobs, Gesine Cauer, Melanie Pham, Suhas S. P. Rao, Olga Dudchenko, Arina Omer, Kiana Mohajeri, Sungjae Kim, Michael H. Nichols, Eric S. Davis, Dimos Gkountaroulis, Devika Udupa, Aviva Presser Aiden, Victor G. Corces, Douglas H. Phanstiel, William Stafford Noble, Guy Nir, Michele Di Pierro, Jeong-Sun Seo, Michael E. Talkowski, Erez Lieberman Aiden, M. Jordan Rowley
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Nuclear compartments are prominent features of 3D chromatin organization, but sequencing depth limitations have impeded investigation at ultra fine-scale. CTCF loops are generally studied at a finer scale, but the impact of looping on proxim
Externí odkaz:
https://doaj.org/article/273c83ceac55444f8d76b4044e6d0017
Autor:
Sudha Rajderkar, Iros Barozzi, Yiwen Zhu, Rong Hu, Yanxiao Zhang, Bin Li, Ana Alcaina Caro, Yoko Fukuda-Yuzawa, Guy Kelman, Adyam Akeza, Matthew J. Blow, Quan Pham, Anne N. Harrington, Janeth Godoy, Eman M. Meky, Kianna von Maydell, Riana D. Hunter, Jennifer A. Akiyama, Catherine S. Novak, Ingrid Plajzer-Frick, Veena Afzal, Stella Tran, Javier Lopez-Rios, Michael E. Talkowski, K. C. Kent Lloyd, Bing Ren, Diane E. Dickel, Axel Visel, Len A. Pennacchio
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
Abstract Topologically associating domain (TAD) boundaries partition the genome into distinct regulatory territories. Anecdotal evidence suggests that their disruption may interfere with normal gene expression and cause disease phenotypes1–3, but t
Externí odkaz:
https://doaj.org/article/e14ddea1acbd44d0886ef92596b4bbe5
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/246c128b7d694e8c9750797691095648
Autor:
Elaine T. Lim, Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J. C. Tai, Songlei Liu, Julia M. Reichert, Mannix J. Burns, Ying Kai Chan, Jessica J. Chiang, Katharina Meyer, Xiaochang Zhang, Christopher A. Walsh, Bruce A. Yankner, Soumya Raychaudhuri, Joel N. Hirschhorn, James F. Gusella, Michael E. Talkowski, George M. Church
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Cerebral organoids can be used to gain insights into neuropsychiatric disorders. Here the authors carry out RNAseq characterization from organoids derived from donors with autism spectrum disorder to identify associated cell type specific driver gene
Externí odkaz:
https://doaj.org/article/95de5f4e0e584e9ba9efd47fbab020ce
Autor:
Jiadong Lin, Xiaofei Yang, Walter Kosters, Tun Xu, Yanyan Jia, Songbo Wang, Qihui Zhu, Mallory Ryan, Li Guo, Chengsheng Zhang, Charles Lee, Scott E. Devine, Evan E. Eichler, Kai Ye, Mark B. Gerstein, Ashley D. Sanders, Micheal C. Zody, Michael E. Talkowski, Ryan E. Mills, Jan O. Korbel, Tobias Marschall, Peter Ebert, Peter A. Audano, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Tobias Rausch, Yu Chen, Zechen Chong, Katherine M. Munson, Mark J.P. Chaisson, Junjie Chen, Xinghua Shi, Aaron M. Wenger, William T. Harvey, Patrick Hansenfeld, Allison Regier, Ira M. Hall, Paul Flicek, Alex R. Hastie, Susan Fairely
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 205-218 (2022)
Complex structural variants (CSVs) are genomic alterations that have more than two breakpoints and are considered as the simultaneous occurrence of simple structural variants. However, detecting the compounded mutational signals of CSVs is challengin
Externí odkaz:
https://doaj.org/article/513b1cf5af894e5190b4427f8d55b1a7
Autor:
Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-12 (2021)
Abstract Background The Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cog
Externí odkaz:
https://doaj.org/article/b9609e23d33c4f859797a3249545c452
Autor:
Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Drugs that modify RNA splicing are promising treatments for many genetic diseases. Here the authors show that deep learning strategies can predict drug targets, strongly supporting the use of in silico approaches to expand the therapeutic potential o
Externí odkaz:
https://doaj.org/article/a1488d5827774183bb159243db93b815