The MECP2 duplication syndrome
Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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Journal Article
Clinical review of genetic epileptic encephalopathies
Noh, Grace J, Jane Tavyev Asher, Y, Graham, John M
Published in European journal of medical genetics (01.05.2012)
Published in European journal of medical genetics (01.05.2012)
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Journal Article
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
Tavyev Asher, Y. Jane, Scaglia, Fernando
Published in European journal of medical genetics (01.05.2012)
Published in European journal of medical genetics (01.05.2012)
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Journal Article
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine
O’Leary, Ryan E, Shih, Jean C, Hyland, Keith, Kramer, Nancy, Asher, Y. Jane Tavyev, Graham, John M
Published in European journal of medical genetics (01.05.2012)
Published in European journal of medical genetics (01.05.2012)
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Journal Article
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
Ramocki, Melissa B., Peters, Sarika U., Tavyev, Y. Jane, Zhang, Feng, Carvalho, Claudia M. B., Schaaf, Christian P., Richman, Ronald, Fang, Ping, Glaze, Daniel G., Lupski, James R., Zoghbi, Huda Y.
Published in Annals of neurology (01.12.2009)
Published in Annals of neurology (01.12.2009)
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Journal Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Shaw, Chad, Peacock, Sandra, Pursley, Amber, Tavyev, Y. Jane, Ramocki, Melissa B., Nawara, Magdalena, Obersztyn, Ewa, Vianna-Morgante, Angela M., Stankiewicz, Pawel, Zoghbi, Huda Y., Cheung, Sau Wai, Lupski, James R.
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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A Case Series of Patients With Central Hypothyroidism From Oxcarbazepine Therapy
Schweiger, Bahareh Michelle, Lao, Aaron-James, Tavyev, Jane
Published in Journal of child neurology (01.03.2021)
Published in Journal of child neurology (01.03.2021)
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Journal Article
PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy
Nelson, Michael D, Rader, Florian, Tang, Xiu, Tavyev, Jane, Nelson, Stanley F, Miceli, M Carrie, Elashoff, Robert M, Sweeney, H Lee, Victor, Ronald G
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Journal Article
The MECP2 Duplication Syndrome : Microduplication syndromes
RAMOCKI, Melissa B, TAVYEV, Y. Jane, PETERS, Sarika U
Published in American journal of medical genetics. Part A (2010)
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Published in American journal of medical genetics. Part A (2010)
Journal Article