Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ahmad N. Abou Tayoun"'
Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes
Autor:
Alawi A. Alsheikh-Ali, Rupa Varghese, Mohammed Uddin, Norbert Nowotny, Divinlal Harilal, Ruchi Jain, Hanan Alsuwaidi, Abdulmajeed Alkhajeh, Ahmad N. Abou Tayoun, Sathishkumar Ramaswamy, Hamda Khansaheb, Tom Loney, Zulfa Deesi
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 153-160 (2021)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal
Graphical abstract
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis and management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal swabs of patients
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis and management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal swabs of patients
Autor:
Ammar Albanna, Maha El Naofal, Ahmad N. Abou Tayoun, Mohammed Uddin, Zeinab Alloub, Yasmeen Qutub, Nour Abu Mahfouz, Walid Abuhammour, Alan Taylor, Divinlal Harilal, Alia Ibrahim, Basil M Fathalla, Sathishkumar Ramaswamy, Praseetha Kizhakkedath
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1020-1027 (2020)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal
Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been pr
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)
Genome Medicine
Genome Medicine
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 evidence codes
Autor:
Matthew S. Lebo, Ahmad N. Abou Tayoun, Chao Wu, Mahdi Sarmady, Amanda Lindy, Dianalee McKnight, Perry Evans
Publikováno v:
Genome Research. 29:1144-1151
Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and the difficult
Publikováno v:
Human Mutation
Human Mutation, 2019, 40 (3), pp.243-257. ⟨10.1002/humu.23701⟩
Human Mutation, 2019, 40 (3), pp.243-257. ⟨10.1002/humu.23701⟩
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited in an unusual X-linked dominant pattern in
Autor:
Mubarak Al Faresi, Hamda Khansaheb, Norbert Nowotny, Alawi A. Alsheikh-Ali, Rupa Varghese, Hanan Al Suwaidi, Abiola Senok, Ahmad N. Abou Tayoun, Zulfa Omar Deesi, Tom Loney, Anees Khadeeja, Madhvi Joshi, Mohammed Uddin, Divinlal Harilal, Abdulmajeed Alkhajeh, Sathishkumar Ramaswamy, Laila AlDabal, Aydah Belal Al Ali
Publikováno v:
Transboundary and Emerging Diseases
The geographic location and heterogeneous multi‐ethnic population of Dubai (United Arab Emirates; UAE) provide a unique setting to explore the global molecular epidemiology of SARS‐CoV‐2 and relationship between different viral strains and dise
Genetic investigations for patients with pediatric rheumatological disorders have been limited to classic genotyping testing, mainly MEFV hotspot mutation analysis, for periodic fever. Therefore, the landscape and clinical utility of comprehensive ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835a9579aa26b880336a796f2329e244
https://doi.org/10.1101/2020.09.30.20204016
https://doi.org/10.1101/2020.09.30.20204016
Autor:
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
Publikováno v:
Genetics in Medicine, 21, 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247
PurposeProper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea097328dc52161534a78b9bfbc89123
Autor:
Ahmad N. Abou Tayoun, Leslie G. Biesecker, Tina Pesaran, Marina T. DiStefano, Steven M. Harrison, Andrea M. Oza, Heidi L. Rehm
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria. This guideline includes a pathogenic criterion (PVS1) for predicted loss of function v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547fc6e57cdd999dee38ea84a23e1d21
Autor:
Marina T. DiStefano, Mark Bowser, Sarah E. Hemphill, Elizabeth Hynes, Andrew R. Grant, Sami S. Amr, Brandon J. Cushman, Ahmad N. Abou Tayoun, Andrea M. Oza, Michael A. Gonzalez, Rebecca K. Siegert, Heidi L. Rehm
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts, and applied it to 109 hearing loss-associated genes that were divided into 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b859a991b574f5ff0bda4254fec57fb4
https://doi.org/10.1101/276287
https://doi.org/10.1101/276287