Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ahmad N. Abou Tayoun"'
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:
Kwong Wai Choy, Gema Garrido, Rebecca K. Siegert, Yoel Hirsch, Andrew R. Grant, Yu Lu, Alecia Willis, Hatice Duzkale, Lisa Schimmenti, Xue Zhong Liu, Krista Moyer, Hela Azaiez, Rebecca Mar-Heyming, Richard Smith, Narasimhan Nagan, Christine Lo, Xinhua Hu, Ahmad N. Abou Tayoun, Hyunseok Kang, Sarah E. Hemphill, Cynthia C. Morton, Yan Zhang, Yen-Fu Cheng, Huijun Yuan, Kevin T. Booth, Anne Giersch, Moshe Frydman, Tatsuo Matsunaga, Jun Shen, John H. Greinwald, Tzvi Weiden, Saurav Guha, Ye Cao, Hideki Mutai, Yukun Zeng, Arti Pandya, John J. Alexander, Lina Basel-Salmon, Marina T. DiStefano, Margaret A. Kenna, Zippora Brownstein, Ignacio del Castillo, Kejian Zhang, Bella Davidov, Sami S. Amr, Minjie Luo, Karen B. Avraham, Andrea M. Oza, Mustafa Tekin, Miguel A. Moreno-Pelayo, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required f
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
Autor:
Ahmad N. Abou Tayoun, Zulfa Deesi, Hanan Al Suwaidi, Divinlal Harilal, Tom Loney, Hamda Khansaheb, Norbert Nowotny, Abdulmajeed Alkhaja, Rupa Varghese, Sathishkumar Ramaswamy, Alawi A. Alsheikh-Ali
Publikováno v:
Clinical Chemistry
Background With the gradual reopening of economies and resumption of social life, robust surveillance mechanisms should be implemented to control the ongoing COVID-19 pandemic. Unlike RT-qPCR, SARS-CoV-2 whole genome sequencing (cWGS) has the added a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18ecd1541e163cd916583c79d0d1fd2
https://doi.org/10.1101/2020.06.06.138339
https://doi.org/10.1101/2020.06.06.138339
Autor:
Andrea M. Oza, Sami S. Amr, Omnia Elrehim, Khalid A. Al-Mazrou, Ahmad N. Abou Tayoun, Naif A.M. Almontashiri, Abdulrahman Alswaid, Heidi L. Rehm
Publikováno v:
Genetics in Medicine
Purpose Hearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of triba
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets
Autor:
Matthew S. Lebo, Dianalee McKnight, Perry Evans, Chao Wu, Mahdi Sarmady, Ahmad N. Abou Tayoun, Amanda Lindy
Recent advances in DNA sequencing technologies have expanded our understanding of the molecular underpinnings for several genetic disorders, and increased the utilization of genomic tests by clinicians. Given the paucity of evidence to assess each va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cceef91c09f3574fe12f3e7ed85540
https://doi.org/10.1101/334235
https://doi.org/10.1101/334235
Autor:
Gregory J. Tsongalis, Ahmad N. Abou Tayoun, Laura J. Tafe, Trevor J. Pugh, Timothy T. Harkins, Wendy A. Wells, Minita Shah, Christopher I. Amos, Clarence Lee, Tristen Ross, Christopher D. Tunkey
Publikováno v:
Clinical Chemistry. 59:1481-1488
BACKGROUND Cystic fibrosis is a life-threatening genetic disorder that has been associated with mutations in the CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] gene. Hundreds of CFTR mutations