Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Ahmad N Abou Tayoun"'
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34665 (2012)
A role for SK channels in synaptic plasticity has been very well-characterized. However, in the absence of simple genetic animal models, their role in behavioral memory remains elusive. Here, we take advantage of Drosophila melanogaster with its sing
Externí odkaz:
https://doaj.org/article/677bf50e760b4780a8192f2b5a4594d8
Autor:
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. Freeman, Corina Gonzalez, Arif O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed AlAwadhi, Abdulla AlKhayat, Alawi Alsheikh-Ali, Ahmad N. Abou Tayoun
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management pla
Externí odkaz:
https://doaj.org/article/35ba5f303bf24df8a72a134940d5e4d5
Autor:
Nour Halabi, Sathishkumar Ramaswamy, Maha El Naofal, Alan Taylor, Sawsan Yaslam, Ruchi Jain, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Hamda Abulhoul, Shiva Shankar, Dalwinder Janjua, Devendrasing Jadhav, Munira Mahmoud Al Maazmi, Walid Abuhammour, Alawi Alsheikh-Ali, Mohamed Al Awadhi, Abdulla Al Khayat, Ahmad N. Abou Tayoun
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-5 (2022)
Abstract We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipin
Externí odkaz:
https://doaj.org/article/21b7a0073f4d43f3a71aec8a07f493f5
Autor:
Roshna Lawrence Gomez, Laura M. Woods, Revathy Ramachandran, Ahmad N. Abou Tayoun, Anna Philpott, Fahad R. Ali
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Neuroblastoma is a pediatric tumour that accounts for more than 15% of cancer-related deaths in children. High-risk tumours are often difficult to treat, and patients’ survival chances are less than 50%. Retinoic acid treatment is part of the maint
Externí odkaz:
https://doaj.org/article/388d8674c43942e7bdb8e70674963ce6
Autor:
Ahmad N. Abou Tayoun, Heidi L. Rehm
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-4 (2020)
Abstract We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible solutions to generating and access
Externí odkaz:
https://doaj.org/article/30181fb4cd724c4a82afd6aa1846df39
Autor:
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evide
Externí odkaz:
https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31
Autor:
Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian K. Lucas, Jean Monlong, Haley J. Abel, Silvia Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, Jordan M. Eizenga, Xiaowen Feng, Christian Fischer, Robert S. Fulton, Shilpa Garg, Cristian Groza, Andrea Guarracino, William T. Harvey, Simon Heumos, Kerstin Howe, Miten Jain, Tsung-Yu Lu, Charles Markello, Fergal J. Martin, Matthew W. Mitchell, Katherine M. Munson, Moses Njagi Mwaniki, Adam M. Novak, Hugh E. Olsen, Trevor Pesout, David Porubsky, Pjotr Prins, Jonas A. Sibbesen, Jouni Sirén, Chad Tomlinson, Flavia Villani, Mitchell R. Vollger, Lucinda L. Antonacci-Fulton, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, Andrew Carroll, Pi-Chuan Chang, Sarah Cody, Daniel E. Cook, Robert M. Cook-Deegan, Omar E. Cornejo, Mark Diekhans, Peter Ebert, Susan Fairley, Olivier Fedrigo, Adam L. Felsenfeld, Giulio Formenti, Adam Frankish, Yan Gao, Nanibaa’ A. Garrison, Carlos Garcia Giron, Richard E. Green, Leanne Haggerty, Kendra Hoekzema, Thibaut Hourlier, Hanlee P. Ji, Eimear E. Kenny, Barbara A. Koenig, Alexey Kolesnikov, Jan O. Korbel, Jennifer Kordosky, Sergey Koren, HoJoon Lee, Alexandra P. Lewis, Hugo Magalhães, Santiago Marco-Sola, Pierre Marijon, Ann McCartney, Jennifer McDaniel, Jacquelyn Mountcastle, Maria Nattestad, Sergey Nurk, Nathan D. Olson, Alice B. Popejoy, Daniela Puiu, Mikko Rautiainen, Allison A. Regier, Arang Rhie, Samuel Sacco, Ashley D. Sanders, Valerie A. Schneider, Baergen I. Schultz, Kishwar Shafin, Michael W. Smith, Heidi J. Sofia, Ahmad N. Abou Tayoun, Françoise Thibaud-Nissen, Francesca Floriana Tricomi, Justin Wagner, Brian Walenz, Jonathan M. D. Wood, Aleksey V. Zimin, Guillaume Bourque, Mark J. P. Chaisson, Paul Flicek, Adam M. Phillippy, Justin M. Zook, Evan E. Eichler, David Haussler, Ting Wang, Erich D. Jarvis, Karen H. Miga, Erik Garrison, Tobias Marschall, Ira M. Hall, Heng Li, Benedict Paten
Publikováno v:
Nature. 617:312-324
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce56c54eebc15371aabecb5595f996d0
https://doi.org/10.1038/s41586-023-05896-x
https://doi.org/10.1038/s41586-023-05896-x
Autor:
Jiale Xiang, Xiangzhong Sun, Nana Song, Sathishkumar Ramaswamy, Ahmad N. Abou Tayoun, Zhiyu Peng
Publikováno v:
Human Genetics. 142:33-43
Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of this study was to delineate the genetic and phenotypic landscape of GJB2 SNV variants. All possible single-nucleotide substitution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d96835cc894c8ecb99b63a1a180b5fe
https://doi.org/10.1007/s00439-022-02479-0
https://doi.org/10.1007/s00439-022-02479-0
Autor:
Tom Loney, Noushad Karuvantevida, Pia Weidinger, Jeremy V. Camp, Sathiskumar Ramaswamy, Babiker Mohammed Osman, Ahmad N. Abou Tayoun, Norbert Nowotny, Jolanta Kolodziejek, Dafalla O Kannan
Publikováno v:
Emerging Infectious Diseases, Vol 27, Iss 9, Pp 2471-2474 (2021)
Emerging Infectious Diseases
Emerging Infectious Diseases
We previously detected a potentially novel reassortant of Crimean-Congo hemorrhagic fever virus in camels at the largest livestock market in the United Arab Emirates. A broader survey of large mammals at the site indicated zoonotic transmission is as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941ee7b502ed8c1d13b38745b4a26aaa
https://doi.org/10.3201/eid2709.210299
https://doi.org/10.3201/eid2709.210299
Autor:
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. Freeman, Corina Gonzalez, Arif O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed Al Awadhi, Abdulla Al Khayat, Alawi Alsheikh-Ali, Ahmad N. Abou Tayoun
BACKGROUNDRare diseases collectively impose significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans.METHODSWe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5061efae3b4ff2457f6df30c4473c224
https://doi.org/10.1101/2022.09.17.22279590
https://doi.org/10.1101/2022.09.17.22279590
