Tayoun, Ahmad N. Abou: search on Z-Library

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1

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Abou Tayoun, Ahmad N., Pesaran, Tina, DiStefano, Marina T., Oza, Andrea, Rehm, Heidi L., Biesecker, Leslie G., Harrison, Steven M.

Journal:

Year:

2018

Language:

english

File:

PDF, 941 KB

english, 2018

2

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern

Niazi, Rojeen, Fanning, Elizabeth A., Depienne, Christel, Sarmady, Mahdi, Abou Tayoun, Ahmad N.

Journal:

Year:

2018

Language:

english

File:

PDF, 1017 KB

english, 2018

3

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing

Wu, Chao, Zhao, Xiaonan, Welsh, Mark, Costello, Kellianne, Cao, Kajia, Abou Tayoun, Ahmad, Li, Marilyn, Sarmady, Mahdi

Journal:

Clinical Chemistry

Year:

2019

File:

PDF, 1.17 MB

2019

4

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing

Wu, Chao, Zhao, Xiaonan, Welsh, Mark, Costello, Kellianne, Cao, Kajia, Abou Tayoun, Ahmad, Li, Marilyn, Sarmady, Mahdi

Journal:

Clinical Chemistry

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

5

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

Abou Tayoun, Ahmad, Krock, Bryan, Spinner, Nancy B.

Journal:

Expert Review of Molecular Diagnostics

Year:

2016

Language:

english

File:

PDF, 860 KB

english, 2016

6

Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

Helbig, Ingo, Abou Tayoun, Ahmad N.

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 247 KB

english, 2016

7

Multiple early introductions of SARS-CoV-2 into a global travel hub in the Middle East

Tayoun, Ahmad Abou, Loney, Tom, Khansaheb, Hamda, Ramaswamy, Sathishkumar, Harilal, Divinlal, Deesi, Zulfa Omar, Varghese, Rupa Murthy, Al Suwaidi, Hanan, Alkhajeh, Abdulmajeed, AlDabal, Laila Mohamed

Journal:

Scientific Reports

Year:

2020

File:

PDF, 2.39 MB

2020

8

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis

Sarmady, Mahdi, Abou Tayoun, Ahmad

Journal:

JAMA Pediatrics

Year:

2018

Language:

english

File:

PDF, 111 KB

english, 2018

9

MicroRNAs as diagnostic markers for pancreatic ductal adenocarcinoma and its precursor, pancreatic intraepithelial neoplasm

Xue, Yue, Abou Tayoun, Ahmad N., Abo, Kristine M., Pipas, J. Marc, Gordon, Stuart R., Gardner, Timothy B., Barth, Richard J., Suriawinata, Arief A., Tsongalis, Gregory J.

Journal:

Cancer Genetics

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

10

A rapid RT-PCR assay for the detection of HIV-1 in human plasma specimens

Burchard, Paul R., Abou Tayoun, Ahmad N., Scherer, Axel, Tsongalis, Gregory J.

Journal:

Experimental and Molecular Pathology

Year:

2014

Language:

english

File:

PDF, 617 KB

english, 2014

11

Development of a rapid clinical TPMT genotyping assay

Burchard, Paul R., Abou Tayoun, Ahmad N., Lefferts, Joel A., Lewis, Lionel D., Tsongalis, Gregory J., Cervinski, Mark A.

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 418 KB

english, 2014

12

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

Amr, Sami S., Murphy, Elissa, Duffy, Elizabeth, Niazi, Rojeen, Balciuniene, Jorune, Luo, Minjie, Rehm, Heidi L., Abou Tayoun, Ahmad N.

Journal:

Clinical Chemistry

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

13

Considerations for whole exome sequencing unique to prenatal care

Abou Tayoun, Ahmad, Mason-Suares, Heather

Journal:

Year:

2019

Language:

english

File:

PDF, 724 KB

english, 2019

14

A clinical PCR fragment analysis assay for TA repeat sizing in the UGT1A1 promoter region

Abou Tayoun, Ahmad N., de Abreu, Francine B., Lefferts, Joel A., Tsongalis, Gregory J.

Journal:

Clinica Chimica Acta

Year:

2013

Language:

english

File:

PDF, 397 KB

english, 2013

15

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

Fathalla, Basil M., Elgabaly, Elham Ahmed, Tayoun, Ahmad Abou

Journal:

Pediatric Rheumatology

Year:

2020

File:

PDF, 1.88 MB

2020

16

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

Tayoun, Ahmad N. Abou, Mason-Suares, Heather, Frisella, Ashley L., Bowser, Mark, Duffy, Elizabeth, Mahanta, Lisa, Funke, Birgit, Rehm, Heidi L., Amr, Sami S.

Journal:

Year:

2016

Language:

english

File:

PDF, 625 KB

english, 2016

17

Case Report: CMV-Associated Congenital Nephrotic Syndrome

Jacob, Anju, Habeeb, Shameer M., Herlitz, Leal, Simkova, Eva, Shekhy, Jwan F., Taylor, Alan, Abuhammour, Walid, Abou Tayoun, Ahmad, Bitzan, Martin

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 930 KB

2020

18

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

Abou Tayoun, Ahmad N., Spinner, Nancy B., Rehm, Heidi L., Green, Robert C., Bianchi, Diana W.

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 853 KB

english, 2017

19

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

Abou Tayoun, Ahmad N., Al Turki, Saeed H., Oza, Andrea M., Bowser, Mark J., Hernandez, Amy L., Funke, Birgit H., Rehm, Heidi L., Amr, Sami S.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 563 KB

english, 2015

20

Effect of common medications on the expression of SARSâCoVâ2 entry receptors in kidney tissue

Saheb SharifâAskari, Narjes, Saheb SharifâAskari, Fatemeh, Alabed, Mashael, Tayoun, Ahmad Abou, Loney, Tom, Uddin, Mohammed, Senok, Abiola, Al Heialy, Saba, Hamoudi, Rifat, Kashour, Tarek, Alsheik

Journal:

Clinical and Translational Science

Year:

2020

File:

PDF, 8.18 MB

2020

21

Precision Therapies in Neurodevelopmental Disorders

Uddin, Mohammed, Tayoun, Ahmad N. Abou, Jan, Reem Kais, Akter, Hosneara, Andrade, Danielle M., Boelman, Cyrus

Journal:

Advances in Molecular Pathology

Year:

2020

File:

PDF, 208 KB

2020

22

Evaluating the thermostability of commercial fast real-time PCR master mixes

Ahmad N. Abou Tayoun, Brian P. Ward, George Maltezos, Axel Scherer, Gregory J. Tsongalis

Journal:

Experimental and Molecular Pathology

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

23

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients

Almontashiri, Naif A M, Alswaid, Abdulrahman, Oza, Andrea, Al-Mazrou, Khalid A, Elrehim, Omnia, Tayoun, Ahmad Abou, Rehm, Heidi L, Amr, Sami S

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 970 KB

english, 2017

24

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

Brnich, Sarah E., Abou Tayoun, Ahmad N., Couch, Fergus J., Cutting, Garry R., Greenblatt, Marc S., Heinen, Christopher D., Kanavy, Dona M., Luo, Xi, McNulty, Shannon M., Starita, Lea M., Tavtigian, Se

Journal:

Genome Medicine

Year:

2020

File:

PDF, 1.28 MB

2020

25

A multiplex PCR assay for the simultaneous detection of Chlamydia trachomatis, Neisseria gonorrhoeae, and Trichomonas vaginalis

Abou Tayoun, Ahmad N., Burchard, Paul R., Caliendo, Angela M., Scherer, Axel, Tsongalis, Gregory J.

Journal:

Experimental and Molecular Pathology

Year:

2015

Language:

english

File:

PDF, 921 KB

english, 2015

26

Ca 2+ -Activated K + Channels Reduce Network Excitability, Improving Adaptability and Energetics for Transmitting and Perceiving Sensory Information

Li, Xiaofeng, Abou Tayoun, Ahmad, Song, Zhuoyi, Dau, An, Rien, Diana, Jaciuch, David, Dongre, Sidhartha, Blanchard, Florence, Nikolaev, Anton, Zheng, Lei, Bollepalli, Murali K., Chu, Brian, Hardie, Ro

Journal:

Journal of Neuroscience

Year:

2019

Language:

english

File:

PDF, 8.97 MB

english, 2019

27

Ca 2+ -Activated K + Channels Reduce Network Excitability, Improving Adaptability and Energetics for Transmitting and Perceiving Sensory Information

Li, Xiaofeng, Abou Tayoun, Ahmad, Song, Zhuoyi, Dau, An, Rien, Diana, Jaciuch, David, Dongre, Sidhartha, Blanchard, Florence, Nikolaev, Anton, Zheng, Lei, Bollepalli, Murali K., Chu, Brian, Hardie, Ro

Journal:

Journal of Neuroscience

Year:

2019

File:

PDF, 8.97 MB

2019

28

The development and validation of clinical exome-based panels using ExomeSlicer

Niazi, Rojeen, Gonzalez, Michael A., Balciuniene, Jorune, Evans, Perry, Sarmady, Mahdi, Abou Tayoun, Ahmad N.

Journal:

The Journal of Molecular Diagnostics

Year:

2018

Language:

english

File:

PDF, 1.20 MB

english, 2018

29

Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19

Al Heialy, Saba, Hachim, Mahmood Yaseen, Senok, Abiola, Gaudet, Mellissa, Abou Tayoun, Ahmad, Hamoudi, Rifat, Alsheikh-Ali, Alawi, Hamid, Qutayba

Journal:

Frontiers in Physiology

Year:

2020

File:

PDF, 4.34 MB

2020

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