Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Yoel Gofin"'
Autor:
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_0
Externí odkaz:
https://doaj.org/article/c1565656a57247c794a00bb588623cd0
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101459- (2024)
Externí odkaz:
https://doaj.org/article/25c9f52bd525402386b7a9b6c48c935d
Autor:
Yoel Gofin, Ran Svirsky, Dana Lavi Ben Atav, Meytal Liberman, Tamar Tenne, Rivka Sukenik-Halevy
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101700- (2024)
Externí odkaz:
https://doaj.org/article/831d8c37529d4b5fa428b98e6b37ddca
Autor:
Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104940- (2024)
Summary: Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases
Externí odkaz:
https://doaj.org/article/feaa18e3ae4044efa81e50c3d6abb23f
Autor:
Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano, Daryl A. Scott
Publikováno v:
American Journal of Medical Genetics Part A. 188:2718-2723
Autor:
Joel Rozowsky, Jiahao Gao, Beatrice Borsari, Yucheng T. Yang, Timur Galeev, Gamze Gürsoy, Charles B. Epstein, Kun Xiong, Jinrui Xu, Tianxiao Li, Jason Liu, Keyang Yu, Ana Berthel, Zhanlin Chen, Fabio Navarro, Maxwell S. Sun, James Wright, Justin Chang, Christopher J.F. Cameron, Noam Shoresh, Elizabeth Gaskell, Jorg Drenkow, Jessika Adrian, Sergey Aganezov, François Aguet, Gabriela Balderrama-Gutierrez, Samridhi Banskota, Guillermo Barreto Corona, Sora Chee, Surya B. Chhetri, Gabriel Conte Cortez Martins, Cassidy Danyko, Carrie A. Davis, Daniel Farid, Nina P. Farrell, Idan Gabdank, Yoel Gofin, David U. Gorkin, Mengting Gu, Vivian Hecht, Benjamin C. Hitz, Robbyn Issner, Yunzhe Jiang, Melanie Kirsche, Xiangmeng Kong, Bonita R. Lam, Shantao Li, Bian Li, Xiqi Li, Khine Zin Lin, Ruibang Luo, Mark Mackiewicz, Ran Meng, Jill E. Moore, Jonathan Mudge, Nicholas Nelson, Chad Nusbaum, Ioann Popov, Henry E. Pratt, Yunjiang Qiu, Srividya Ramakrishnan, Joe Raymond, Leonidas Salichos, Alexandra Scavelli, Jacob M. Schreiber, Fritz J. Sedlazeck, Lei Hoon See, Rachel M. Sherman, Xu Shi, Minyi Shi, Cricket Alicia Sloan, J Seth Strattan, Zhen Tan, Forrest Y. Tanaka, Anna Vlasova, Jun Wang, Jonathan Werner, Brian Williams, Min Xu, Chengfei Yan, Lu Yu, Christopher Zaleski, Jing Zhang, Kristin Ardlie, J Michael Cherry, Eric M. Mendenhall, William S. Noble, Zhiping Weng, Morgan E. Levine, Alexander Dobin, Barbara Wold, Ali Mortazavi, Bing Ren, Jesse Gillis, Richard M. Myers, Michael P. Snyder, Jyoti Choudhary, Aleksandar Milosavljevic, Michael C. Schatz, Bradley E. Bernstein, Roderic Guigó, Thomas R. Gingeras, Mark Gerstein
Understanding how genetic variants impact molecular phenotypes is a key goal of functional genomics, currently hindered by reliance on a single haploid reference genome. Here, we present the EN-TEx resource of 1,635 open-access datasets from four don
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464939170ba93b49ee4e474d325702f1
http://hdl.handle.net/10230/56942
http://hdl.handle.net/10230/56942
Publikováno v:
Prenat Diagn
Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH. Here, we review the aneuploidies, copy number variants (CNVs), and singl
Autor:
Gabriel Codick, Ruth Feldman, Zafnat Prokocimer, Orna Zagoory-Sharon, Gilat Livni, Eliana Fanous, Yoel Gofin, Orith Waisbourd-Zinman, Yehonatan Pasternak, Sophia Fried
Publikováno v:
European Journal of Pediatrics. 180:2465-2472
Identifying the etiology of an acute respiratory infection in children is a well-known challenge. In this study, we evaluated the correlation between salivary C-reactive protein (CRP) and its serum counterpart, which is known to be higher in bacteria
Autor:
Yoel Gofin, Daryl A. Scott
Publikováno v:
The Journal of pediatrics. 248
Autor:
Yoel Gofin, Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian, Casie Genetti, Pankaj B. Agrawal, Jonathan Picker, Monica H. Wojcik, Mauricio R. Delgado, Sally A. Lynch, Stephen W. Scherer, Jennifer L. Howe, Carlos A. Bacino, Stephanie DiTroia, Grace E. VanNoy, Anne O'Donnell‐Luria, Seema R. Lalani, William D. Graf, Jill A. Rosenfeld, Evan E. Eichler, Rachel K. Earl, Daryl A. Scott
Publikováno v:
Hum Mutat
PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss-of-function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disord