Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Amanda B, Kuzma"'
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate
Externí odkaz:
https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/00e4e9b861df4fde8b25166bf80aa5f6
Autor:
Yuk Yee Leung, Adam C. Naj, Yi-Fan Chou, Otto Valladares, Michael Schmidt, Kara Hamilton-Nelson, Nicholas Wheeler, Honghuang Lin, Prabhakaran Gangadharan, Liming Qu, Kaylyn Clark, Amanda B. Kuzma, Wan-Ping Lee, Laura Cantwell, Heather Nicaretta, Alzheimer’s Disease Sequencing Project, Jonathan Haines, Lindsay Farrer, Sudha Seshadri, Zoran Brkanac, Carlos Cruchaga, Margaret Pericak-Vance, Richard P. Mayeux, William S. Bush, Anita Destefano, Eden Martin, Gerard D. Schellenberg, Li-San Wang
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics strategy for joint-calling 20,504 WES samples collected across nine studies and sequenced
Externí odkaz:
https://doaj.org/article/378dd02a30dd4635913bd42d5ec182d0
Autor:
Wan-Ping Lee, Albert A. Tucci, Mitchell Conery, Yuk Yee Leung, Amanda B. Kuzma, Otto Valladares, Yi-Fan Chou, Wenbin Lu, Li-San Wang, Gerard D. Schellenberg, Jung-Ying Tzeng
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alzheimer’s Disease (AD) is a progressive neurologic disease and the most common form of dementia. While the causes of AD are not completely understood, genetics plays a key role in the etiology of AD, and thus finding genetic factors holds the pot
Externí odkaz:
https://doaj.org/article/631c6e2012e64644aa1bb9fe8e8e33d6
Autor:
Pavel P, Kuksa, Chia-Lun, Liu, Wei, Fu, Liming, Qu, Yi, Zhao, Zivadin, Katanic, Kaylyn, Clark, Amanda B, Kuzma, Pei-Chuan, Ho, Kai-Teh, Tzeng, Otto, Valladares, Shin-Yi, Chou, Adam C, Naj, Gerard D, Schellenberg, Li-San, Wang, Yuk Yee, Leung
Publikováno v:
Journal of Alzheimer's Disease. 86:461-477
Background: Recent Alzheimer’s disease (AD) genetics findings from genome-wide association studies (GWAS) span progressively larger and more diverse populations and outcomes. Currently, there is no up-to-date resource providing harmonized and searc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::775358d4db1ee25d54690740cf880f77
https://doi.org/10.3233/jad-215055
https://doi.org/10.3233/jad-215055
Autor:
Emily Greenfest‐Allen, Pavel P. Kuksa, Amanda B Kuzma, Otto Valladares, Wan‐Ping Lee, Nicholas R. Wheeler, William S. Bush, Yuk Yee Leung, Christian J Stoeckert, Li‐San Wang
Publikováno v:
Alzheimer's & Dementia. 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::051114606570d2bbc06fc1a123f54e19
https://doi.org/10.1002/alz.064622
https://doi.org/10.1002/alz.064622
Autor:
Pedro Ramon Mena, Brian W. Kunkle, Kelley M. Faber, Larry D. Adams, Jovita D. Inciute, Patrice L. Whitehead, Tatiana M. Foroud, Dolly Reyes‐Dumeyer, Amanda B Kuzma, Yuk Yee Leung, Adam C. Naj, Eden R. Martin, Clifton L. Dalgard, Gerard D. Schellenberg, Li‐San Wang, Richard Mayeux, Badri N. Vardarajan, Jeffery M. Vance, Michael L. Cuccaro, Margaret A. Pericak‐Vance
Publikováno v:
Alzheimer's & Dementia. 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52707c5c5977411342a0cfc7acb29047
https://doi.org/10.1002/alz.068083
https://doi.org/10.1002/alz.068083
Autor:
Heather Issen, Amanda B Kuzma, Otto Valladares, Emily Greenfest‐Allen, Conor Klamann, Prabhakaran Gangadharan, Zivadin Katanic, Andrew Wilk, Yi Zhao, Liming Qu, Michelle K Moon, Alexis Lerro Rose, Joseph Manuel, Peter Keskinen, Carlos Thomas, Shin‐Yi Chou, Wan‐Ping Lee, Yuk Yee Leung, Adam C. Naj, Christian J Stoeckert, Gerard D. Schellenberg, Li‐San Wang
Publikováno v:
Alzheimer's & Dementia. 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5185a8796bcf2bd5c0acf979900f5634
https://doi.org/10.1002/alz.062285
https://doi.org/10.1002/alz.062285
Autor:
John S. Malamon, John J. Farrell, Li Charlie Xia, Beth A. Dombroski, Wan-Ping Lee, Rueben G. Das, Badri N. Vardarajan, Jessica Way, Amanda B. Kuzma, Otto Valladares, Yuk Yee Leung, Allison J. Scanlon, Irving Antonio Barrera Lopez, Jack Brehony, Kim C. Worley, Nancy R. Zhang, Li-San Wang, Lindsay A. Farrer, Gerard D. Schellenberg
BackgroundReliable detection and accurate genotyping of structural variants (SVs) and insertion/deletions (indels) from whole-genome sequence (WGS) data is a significant challenge. We present a protocol for variant calling, quality control, call merg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6ec9c3b75cfd396c1ead8ffffc8b43c
https://doi.org/10.1101/2022.05.19.492472
https://doi.org/10.1101/2022.05.19.492472
Autor:
Jessica Way, Yuk Yee Leung, Amanda B. Kuzma, Beth A. Dombroski, Yi Zhao, Elisabeth E. Mlynarski, Yi-Fan Chou, Alexandre Amlie-Wolf, Gerard D. Schellenberg, Li-San Wang, Ming Jiang, Nicholas Vrettos, Christopher D. Brown, Mitchell Tang
Publikováno v:
J Alzheimers Dis
More than 20 genetic variants associated with late-onset Alzheimer’s disease (LOAD) have been identified by genome-wide association studies (GWAS). However, these variants are tag markers for nearby genetic variants in linkage disequilibrium (LD) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4d4404ea75f5826f1acfec40b35795
https://doi.org/10.3233/jad-190568
https://doi.org/10.3233/jad-190568