Zobrazeno 1 - 10
of 6 023
pro vyhledávání: '"Boerwinkle A"'
We evaluated whether integration of expert guidance on seizure onset zone (SOZ) identification from resting state functional MRI (rs-fMRI) connectomics combined with deep learning (DL) techniques enhances the SOZ delineation in patients with refracto
Externí odkaz:
http://arxiv.org/abs/2312.09360
Autor:
Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and
Externí odkaz:
https://doaj.org/article/b08e11c0c6a64b4e840870232441e2bd
Autor:
Ghislain Rocheleau, Shoa L. Clarke, Gaëlle Auguste, Natalie R. Hasbani, Alanna C. Morrison, Adam S. Heath, Lawrence F. Bielak, Kruthika R. Iyer, Erica P. Young, Nathan O. Stitziel, Goo Jun, Cecelia Laurie, Jai G. Broome, Alyna T. Khan, Donna K. Arnett, Lewis C. Becker, Joshua C. Bis, Eric Boerwinkle, Donald W. Bowden, April P. Carson, Patrick T. Ellinor, Myriam Fornage, Nora Franceschini, Barry I. Freedman, Nancy L. Heard-Costa, Lifang Hou, Yii-Der Ida Chen, Eimear E. Kenny, Charles Kooperberg, Brian G. Kral, Ruth J. F. Loos, Sharon M. Lutz, JoAnn E. Manson, Lisa W. Martin, Braxton D. Mitchell, Rami Nassir, Nicholette D. Palmer, Wendy S. Post, Michael H. Preuss, Bruce M. Psaty, Laura M. Raffield, Elizabeth A. Regan, Stephen S. Rich, Jennifer A. Smith, Kent D. Taylor, Lisa R. Yanek, Kendra A. Young, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Austin T. Hilliard, Catherine Tcheandjieu, Patricia A. Peyser, Ramachandran S. Vasan, Jerome I. Rotter, Clint L. Miller, Themistocles L. Assimes, Paul S. de Vries, Ron Do
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 c
Externí odkaz:
https://doaj.org/article/06f5575dd28f4c74ac4e7a972d07a02f
Autor:
Gareth Hawkes, Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Kathleen C. Barnes, Eric Boerwinkle, Jennifer A. Brody, April P. Carson, Nathalie Chami, Yii-Der Ida Chen, Mina K. Chung, Joanne E. Curran, Dawood Darbar, Patrick T. Ellinor, Myrian Fornage, Victor R. Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R. Kalyani, Robert Kaplan, Sharon L. R. Kardia, Charles Kooperberg, Ruth J. F. Loos, Steven A. Lubitz, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Braxton D. Mitchell, Joanne M. Murabito, Nicholette D. Palmer, Bruce M. Psaty, Susan Redline, M. Benjamin Shoemaker, Edwin K. Silverman, Marilyn J. Telen, Scott T. Weiss, Lisa R. Yanek, Hufeng Zhou, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ching-Ti Liu, Kari E. North, Anne E. Justice, Jonathan M. Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M. Frayling, Caroline F. Wright, Andrew R. Wood, Xihong Lin, Alisa Manning, Michael N. Weedon
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100
Externí odkaz:
https://doaj.org/article/b2e3a91ecb614324b7f2fdd7370d5155
Surgical disconnection of Seizure Onset Zones (SOZs) at an early age is an effective treatment for Pharmaco-Resistant Epilepsy (PRE). Pre-surgical localization of SOZs with intra-cranial EEG (iEEG) requires safe and effective depth electrode placemen
Externí odkaz:
http://arxiv.org/abs/2306.05572
Autor:
Varina L. Boerwinkle, Imani H. Sweatt, Aniela Grzezulkowska, William R. Reuther, Aaron Gelinne, Emilio G. Cediel, Divakar S. Mithal, Carolyn S. Quinsey, Scott W. Elton
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 225-234 (2024)
Abstract Objective The Child Neurology Society 2023 Annual Meeting Neurocritical Care Special Interest Group discussed pediatric opioid use–associated neurotoxicity with cerebellar edema (POUNCE). Inspired by the discussion and the suspicion of an
Externí odkaz:
https://doaj.org/article/1d25ee2de80f413c88becb407a636e49
Autor:
Varina L. Boerwinkle, Mary A. Nowlen, Jesus E. Vazquez, Martin A. Arhin, William R. Reuther, Emilio G. Cediel, Patrick J. McCarty, Iliana Manjón, Jubran H. Jubran, Ashley C. Guest, Kirsten D. Gillette, Frances M. Nowlen, Andrew R Pines, Meitra H. Kazemi, Bahjat F. Qaqish
Publikováno v:
Frontiers in Neuroimaging, Vol 3 (2024)
ObjectiveResting-state functional MRI (rs-fMRI) may localize the seizure onset zone (SOZ) for epilepsy surgery, when compared to intracranial EEG and surgical outcomes, per a prior meta-analysis. Our goals were to further characterize this agreement,
Externí odkaz:
https://doaj.org/article/0b9e4a248fba4a0c91802d0b5c941e15
Autor:
Emilio G. Cediel, Erika A. Duran, Jeffrey Laux, William Reuther, Olivia Leggio, Belfin Robinson, Varina L. Boerwinkle
Publikováno v:
Frontiers in Neuroimaging, Vol 3 (2024)
Severe acute brain injury (SABI) with suppressed consciousness is a major societal burden, with early prognosis being crucial for life-and-death treatment decisions. Resting-state functional MRI (rs-fMRI) is promising for prognosis and identifying ep
Externí odkaz:
https://doaj.org/article/e07e4494055e4c4f8303b0b8961ea879
Autor:
Rebecca Keener, Surya B. Chhetri, Carla J. Connelly, Margaret A. Taub, Matthew P. Conomos, Joshua Weinstock, Bohan Ni, Benjamin Strober, Stella Aslibekyan, Paul L. Auer, Lucas Barwick, Lewis C. Becker, John Blangero, Eugene R. Bleecker, Jennifer A. Brody, Brian E. Cade, Juan C. Celedon, Yi-Cheng Chang, L. Adrienne Cupples, Brian Custer, Barry I. Freedman, Mark T. Gladwin, Susan R. Heckbert, Lifang Hou, Marguerite R. Irvin, Carmen R. Isasi, Jill M. Johnsen, Eimear E. Kenny, Charles Kooperberg, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Sergei Nekhai, Nathan Pankratz, Patricia A. Peyser, Kent D. Taylor, Marilyn J. Telen, Baojun Wu, Lisa R. Yanek, Ivana V. Yang, Christine Albert, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, Joshua C. Bis, Thomas W. Blackwell, Eric Boerwinkle, Esteban G. Burchard, April P. Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T. Ellinor, Myriam Fornage, Bruce D. Gelb, Frank D. Gilliland, Jiang He, Talat Islam, Stefan Kaab, Sharon L. R. Kardia, Shannon Kelly, Barbara A. Konkle, Rajesh Kumar, Ruth J. F. Loos, Fernando D. Martinez, Stephen T. McGarvey, Deborah A. Meyers, Braxton D. Mitchell, Courtney G. Montgomery, Kari E. North, Nicholette D. Palmer, Juan M. Peralta, Benjamin A. Raby, Susan Redline, Stephen S. Rich, Dan Roden, Jerome I. Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M. Benjamin Shoemaker, Edwin K. Silverman, Moritz F. Sinner, Nicholas L. Smith, Albert V. Smith, Hemant K. Tiwari, Ramachandran S. Vasan, Scott T. Weiss, L. Keoki Williams, Yingze Zhang, Elad Ziv, Laura M. Raffield, Alexander P. Reiner, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group, Marios Arvanitis, Carol W. Greider, Rasika A. Mathias, Alexis Battle
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a
Externí odkaz:
https://doaj.org/article/3e293e6c932a4a42b553d789d690044b
Autor:
Yash Pershad, Taralynn Mack, Hannah Poisner, Yasminka A. Jakubek, Adrienne M. Stilp, Braxton D. Mitchell, Joshua P. Lewis, Eric Boerwinkle, Ruth J. F. Loos, Nathalie Chami, Zhe Wang, Kathleen Barnes, Nathan Pankratz, Myriam Fornage, Susan Redline, Bruce M. Psaty, Joshua C. Bis, Ali Shojaie, Edwin K. Silverman, Michael H. Cho, Jeong H. Yun, Dawn DeMeo, Daniel Levy, Andrew D. Johnson, Rasika A. Mathias, Margaret A. Taub, Donna Arnett, Kari E. North, Laura M. Raffield, April P. Carson, Margaret F. Doyle, Stephen S. Rich, Jerome I. Rotter, Xiuqing Guo, Nancy J. Cox, Dan M. Roden, Nora Franceschini, Pinkal Desai, Alex P. Reiner, Paul L. Auer, Paul A. Scheet, Siddhartha Jaiswal, Joshua S. Weinstock, Alexander G. Bick
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger st
Externí odkaz:
https://doaj.org/article/1250c0a2d37c41cbad1c671a34d1b82b