نتائج البحث - "Tayoun, Ahmad N. Abou"

1

Academic Journal

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

المؤلفون: Woods, Laura M, Ali, Fahad R, Gomez, Roshna, Chernukhin, Igor, Marcos, Daniel, Parkinson, Lydia M, Tayoun, Ahmad N Abou, Carroll, Jason S, Philpott, Anna

مصطلحات موضوعية: ASCL1, Differentiation, Induced neurons, Neuroblastoma, Reprogramming, Basic Helix-Loop-Helix Transcription Factors, Cellular Reprogramming, Neural Stem Cells, Neurogenesis, Neurons

وصف الملف: application/octet-stream; image/png

Relation: https://www.repository.cam.ac.uk/handle/1810/335325

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/335325
https://doi.org/10.17863/CAM.82757

View record in BASE

2

Academic Journal

Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation

المؤلفون: Woods, Laura M., Ali, Fahad R., Gomez, Roshna, Chernukhin, Igor, Marcos, Daniel, Parkinson, Lydia M., Tayoun, Ahmad N. Abou, Carroll, Jason S., Philpott, Anna

المساهمون: Cancer Research UK, Wellcome Trust, Medical Research Council, MBRU ALMAHMEED Collaborative Research Award ALM1909, MBRU College of Medicine Internal grant award, Neuroblastoma UK

المصدر: BMC Genomics ; volume 23, issue 1 ; ISSN 1471-2164

الاتاحة: http://dx.doi.org/10.1186/s12864-022-08495-8
https://link.springer.com/content/pdf/10.1186/s12864-022-08495-8.pdf
https://link.springer.com/article/10.1186/s12864-022-08495-8/fulltext.html

View record in BASE

3

Academic Journal

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

المؤلفون: Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou, Abdelhak, Sonia, Alexander, John, Brownstein, Zippora, Burt, Rachel, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Greinwald, John, Holt, Jeffrey, Hosoya, Makoto, Kim, Un-Kyung, Krantz, Ian, Leal, Suzanne, Masmoudi, Saber, Matsunaga, Tatsuo, Morín, Matías, Morton, Cynthia, Mutai, Hideki, Pandya, Arti, Smith, Richard, Tekin, Mustafa, Usami, Shin-Ichi, Van Camp, Guy, Yamazawa, Kazuki, Yuan, Hui-Jun, Black-Zeigelbein, Elizabeth

المصدر: Genetics in Medicine ; volume 23, issue 11, page 2208-2212 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01254-2
https://www.nature.com/articles/s41436-021-01254-2.pdf
https://www.nature.com/articles/s41436-021-01254-2
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/plain

View record in BASE

4

Academic Journal

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

المؤلفون: Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W., Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A., Jayaraman, Pushkala, Conlin, Laura K., Krock, Bryan L., Deardorff, Matthew A., Spinner, Nancy B., Krantz, Ian D., Santani, Avni B., Tayoun, Ahmad N. Abou, Sarmady, Mahdi

المصدر: European Journal of Human Genetics ; volume 27, issue 4, page 612-620 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-018-0328-7
http://www.nature.com/articles/s41431-018-0328-7.pdf
http://www.nature.com/articles/s41431-018-0328-7

View record in BASE

5

Academic Journal

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

المؤلفون: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S., Abdelhak, Sonia, Alexander, John, Avraham, Karen, Bhatia, Neha, Bai, Donglin, Boczek, Nicole, Brownstein, Zippora, Burt, Rachel, Bylstra, Yasmin, del Castillo, Ignacio, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Goh, Jasmine, Greinwald, John, Griffith, Andrew J., Hernandez, Amy, Holt, Jeffrey, Hosoya, Makoto, Ying, Lim Jiin, Jain, Kanika, Kim, Un-Kyung, Kremer, Hannie, Krantz, Ian, Leal, Suzanne, Lewis, Morag, Liu, Xue Zhong, Low, Wendy, Lu, Yu

المساهمون: National Human Genome Research Institute

المصدر: Genetics in Medicine ; volume 21, issue 10, page 2239-2247 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0487-0
http://www.nature.com/articles/s41436-019-0487-0.pdf
http://www.nature.com/articles/s41436-019-0487-0
https://api.elsevier.com/content/article/PII:S1098360021044919?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021044919?httpAccept=text/plain

View record in BASE

6

Academic Journal

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

المؤلفون: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S., Abdelhak, Sonia, Alexander, John, Avraham, Karen, Bhatia, Neha, Bai, Donglin, Boczek, Nicole, Brownstein, Zippora, Burt, Rachel, Bylstra, Yasmin, del Castillo, Ignacio, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Goh, Jasmine, Greinwald, John, Griffith, Andrew J., Hernandez, Amy, Holt, Jeffrey, Hosoya, Makoto, Ying, Lim Jiin, Jain, Kanika, Kim, Un-Kyung, Kremer, Hannie, Krantz, Ian, Leal, Suzanne, Lewis, Morag, Liu, Xue Zhong, Low, Wendy, Lu, Yu

المصدر: Genetics in Medicine ; volume 21, issue 10, page 2409 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-019-0553-7
http://www.nature.com/articles/s41436-019-0553-7.pdf
http://www.nature.com/articles/s41436-019-0553-7
https://api.elsevier.com/content/article/PII:S1098360021045172?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021045172?httpAccept=text/plain

View record in BASE

7

Academic Journal

Ceramide kinase regulates phospholipase C and phosphatidylinositol 4, 5, bisphosphate in phototransduction

المؤلفون: Dasgupta, Ujjaini, Bamba, Takeshi, Chiantia, Salvatore, Karim, Pusha, Tayoun, Ahmad N. Abou, Yonamine, Ikuko, Rawat, Satinder S., Rao, Raghavendra Pralhada, Nagashima, Kunio, Fukusaki, Eiichiro, Puri, Vishwajeet, Dolph, Patrick J., Schwille, Petra, Acharya, Jairaj K., Acharya, Usha

المساهمون: Program in Molecular Medicine, Program in Gene Function and Expression

المصدر: Proceedings of the National Academy of Sciences of the United States of America ; 106 ; 47 ; 20063-8

مصطلحات موضوعية: Animals, Ceramides, Drosophila Proteins, Drosophila melanogaster, Electroretinography, Homeostasis, Intracellular Membranes, Light, Light Signal Transduction, Mutation, Phosphatidylinositol 4,5-Diphosphate, Phospholipase C beta, Phosphotransferases (Alcohol Group Acceptor), Photoreceptor Cells, Invertebrate, Recombinant Fusion Proteins, Signal Transduction, Type C Phospholipases, Genetics and Genomics

Relation: Link to Article in PubMed; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785292/pdf/zpq20063.pdf; Proc Natl Acad Sci U S A. 2009 Nov 24;106(47):20063-8. Epub 2009 Nov 5. Link to article on publisher's site; 0027-8424 (Linking); http://hdl.handle.net/20.500.14038/44091; https://escholarship.umassmed.edu/pgfe_pp/66; 1946720; pgfe_pp/66

الاتاحة: https://doi.org/10.1073/pnas.0911028106
https://hdl.handle.net/20.500.14038/44091
https://escholarship.umassmed.edu/pgfe_pp/66

View record in BASE

8

Academic Journal

A Synopsis of Chromosomal Microarray Cases at Dartmouth‐Hitchcock Medical Center

المؤلفون: Tayoun, Ahmad N Abou, Tsongalis, Gregory J., Lefferts, Joel A.

المصدر: The FASEB Journal ; volume 27, issue S1 ; ISSN 0892-6638 1530-6860

الاتاحة: http://dx.doi.org/10.1096/fasebj.27.1_supplement.874.3

View record in BASE

9

Academic Journal

Precision Therapies in Neurodevelopmental Disorders

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

المساهمون: College of Medicine, Mohammed Bin Rashid University of Medicine, Sandooq Al Watan, Al Jalila Foundation, The Harvard Medical School Center for Global Health Delivery–Dubai

المصدر: Advances in Molecular Pathology ; volume 3, page 21-27 ; ISSN 2589-4080

الاتاحة: http://dx.doi.org/10.1016/j.yamp.2020.07.017
https://api.elsevier.com/content/article/PII:S2589408020300181?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589408020300181?httpAccept=text/plain

View record in BASE