Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Egor, Dolzhenko"'
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Parkinson’s disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is in-part because previous genetic st
Externí odkaz:
https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7
Autor:
Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are bein
Externí odkaz:
https://doaj.org/article/147380ca096e4bd8a039db9e64e5a8e1
Autor:
Helyaneh Ziaei Jam, Yang Li, Ross DeVito, Nima Mousavi, Nichole Ma, Ibra Lujumba, Yagoub Adam, Mikhail Maksimov, Bonnie Huang, Egor Dolzhenko, Yunjiang Qiu, Fredrick Elishama Kakembo, Habi Joseph, Blessing Onyido, Jumoke Adeyemi, Mehrdad Bakhtiari, Jonghun Park, Sara Javadzadeh, Daudi Jjingo, Ezekiel Adebiyi, Vineet Bafna, Melissa Gymrek
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract Tandem repeats (TRs) represent one of the largest sources of genetic variation in humans and are implicated in a range of phenotypes. Here we present a deep characterization of TR variation based on high coverage whole genome sequencing from
Externí odkaz:
https://doaj.org/article/fc3ce6b9d4d04929afdde67a60974243
Autor:
Fabio Fuligni, Robert Thaenert, Aidan Hennigan, Duncan Kilburn, Valeriya Gaysinskaya, Egor Dolzhenko, Guilherme De Sena Brandine, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith, Timothy Looney, Ray Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga, Meaghan Russell
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101120- (2024)
Externí odkaz:
https://doaj.org/article/605140cf4b3c4596b6038a41f352dd79
Autor:
Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024)
Externí odkaz:
https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9
Autor:
Giulia Del Gobbo, Madeline Couse, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William Rowell, Egor Dolzhenko, Guilherme De Sena Brandine, Michael Eberle, Christian Marshall, Kristin Kernohan, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101474- (2024)
Externí odkaz:
https://doaj.org/article/f66023d212e1414da1adfa5ecb951c07
Autor:
Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101730- (2024)
Externí odkaz:
https://doaj.org/article/11fc808128fd48f381faad5e2499c307
Autor:
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify
Externí odkaz:
https://doaj.org/article/018b5e0870b648eca3506644f3e08453
Autor:
Tina Han, Holly Corbitt, Egor Dolzhenko, Nina Gonzaludo, Sarah Kingan, Po-Yuan Tung, Esteban Toro, Chad Locklear
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100525- (2023)
Externí odkaz:
https://doaj.org/article/9372adbf12dc4bfd9f70a66183d4d77a
Autor:
Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background Screening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counseling of patients with repeat expansion disorders. We aim
Externí odkaz:
https://doaj.org/article/dfc0e44cbc9a4cbfa87537c9569fa862