Bilaketaren emaitzak - Ahmad Abou Tayoun

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  1. 1
    Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

    Understanding Genotypes and Phenotypes in Epileptic Encephalopathies nork Ingo Helbig, Ahmad Abou Tayoun

    Argitaratua 2016
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  2. 2
    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations nork Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

    Argitaratua 2017
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  3. 3
    Evaluating the impact of in silico predictors on clinical variant classification

    Evaluating the impact of in silico predictors on clinical variant classification nork Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun

    Argitaratua 2021
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  4. 4
    Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

    Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation nork Ahmad Abou Tayoun, Saeed Al Turki, Andrea M. Oza, Mark Bowser, Amy Hernandez, Birgit Funke, Heidi L. Rehm, Sami S. Amr

    Argitaratua 2015
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  5. 5
    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion nork Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano, Andrea M. Oza, Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison

    Argitaratua 2018
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  6. 6
    Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19

    Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19 nork Saba Al Heialy, Mahmood Yaseen Hachim, Abiola Senok, Mellissa Gaudet, Ahmad Abou Tayoun, Rifat Hamoudi, Alawi Alsheikh‐Ali, Qutayba Hamid

    Argitaratua 2020
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  7. 7
    Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

    Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus nork Ahmad Abou Tayoun, Heather Mason‐Suares, Ashley L. Frisella, Mark Bowser, Elizabeth Hynes, Lisa Mahanta, Birgit Funke, Heidi L. Rehm, Sami S. Amr

    Argitaratua 2015
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  8. 8
    Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation

    Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation nork Laura M. Woods, Fahad Ali, Roshna Lawrence Gomez, Igor Chernukhin, Daniel Marcos, Lydia M. Parkinson, Ahmad Abou Tayoun, Jason S. Carroll, Anna Philpott

    Argitaratua 2022
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  9. 9
    Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) nork Marilyn M. Li, Ahmad Abou Tayoun, Marina T. DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga‐Itano

    Argitaratua 2022
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  10. 10
    A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

    A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing nork Ahmad Abou Tayoun, Christopher Tunkey, Trevor J. Pugh, Tristen Ross, Minita Shah, Clarence Lee, Timothy T. Harkins, Wendy A. Wells, Laura J. Tafe, Christopher I. Amos, Gregory J. Tsongalis

    Argitaratua 2013
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  11. 11
    Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes

    Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes nork Ruchi Jain, Sathishkumar Ramaswamy, Divinlal Harilal, Mohammed Uddin, Tom Loney, Norbert Nowotny, Hanan Al Suwaidi, Rupa Varghese, Zulfa Deesi, Abdulmajeed Alkhajeh, Hamda Khansaheb, Alawi Alsheikh‐Ali, Ahmad Abou Tayoun

    Argitaratua 2020
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  12. 12
    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy nork Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Kajia Cao, Holly Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan M. Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun

    Argitaratua 2019
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  13. 13
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework nork Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona Kanavy, Xi Luo, Shannon McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg

    Argitaratua 2019
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  14. 14
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework nork Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona Kanavy, Xi Luo, Shannon McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg

    Argitaratua 2019
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  15. 15
    Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases

    Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases nork Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, Ikram Chekroun, Maha El Naofal, Ruchi Jain, Roudha Alfalasi, Nour Halabi, Sawsan Yaslam, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed A. Almarri, Stefan S. du Plessis, Alawi Alsheikh‐Ali, Ahmad Abou Tayoun

    Argitaratua 2025
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  16. 16
    The WHO genomics program of work for equitable implementation of human genomics for global health

    The WHO genomics program of work for equitable implementation of human genomics for global health nork Elena Ambrosino, Ahmad Abou Tayoun, Marc Abramowicz, Bin Alwi Zilfalil, Tiffany Boughtwood, Yosr Hamdi, Tim Hubbard, Yoshihiro Kato, Íscia Lopes‐Cendes, Partha P. Majumder, Deborah Mascalzoni, Rokhaya Ndiaye, Michèle Ramsay, Gabriela M. Repetto, Vorasuk Shotelersuk, Sherry Taylor, John C. Reeder, Anna Laura Ross

    Argitaratua 2024
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  17. 17
    Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations

    Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations nork Fatma Rabea, Maha El Naofal, Ikram Chekroun, Mona Khalaf, Nuha Al Zaabi, Khawla AlZaabi, Mahmoud Elhalik, Swarup Kumar Dash, Yaser El Saba, Azhari Ali, Smitha Abraham, Khansa Fathi, Jwan Shekhy, Saad G. Aswad, Haitham Elbashir, Fowzan S. Alkuraya, Tom Loney, Alawi Alsheikh‐Ali, Abdulla Al Khayat, Ahmad Abou Tayoun

    Argitaratua 2024
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  18. 18
    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss nork Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. Booth, Héla Azaiez, Andrew J. Griffith, Karen B. Avraham, Hannie Kremer, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun

    Argitaratua 2018
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  19. 19
    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses nork Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani

    Argitaratua 2018
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  20. 20
    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria nork Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Argitaratua 2022
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