Results 91 to 100 of about 1,650,847 (244)

Considerations for drug trials in hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant, Matthias Schmitt, Anna B. Reid, Clifford J. Garratt, William G. Newman, Aneil Malhotra, Rhys Beynon, Masliza Mahmod, Betty Raman, Robert M. Cooper, Dana Dawson, Thomas Green, Sanjay K. Prasad, Anvesha Singh, Susanna Dodd, Hugh Watkins, Stefan Neubauer, Christopher A. Miller   +17 more
wiley   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt   +192 more
wiley   +1 more source

Penalized regression and model selection methods for polygenic scores on summary statistics.

PLoS Computational Biology, 2020
Polygenic scores quantify the genetic risk associated with a given phenotype and are widely used to predict the risk of complex diseases. There has been recent interest in developing methods to construct polygenic risk scores using summary statistic data.
Jack Pattee, Wei Pan
doaj   +1 more source

Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events

, 2023
Importance: Coronary artery calcium score and polygenic risk score have each separately been proposed as novel markers to identify risk of coronary heart disease (CHD), but no prior studies have directly compared these markers in the same cohorts ...
Guo, Xiuqing, Allen, Norrina B., Kavousi, Maryam, Uitterlinden, André G.; id_orcid, Rotter, Jerome I., Aday, Aaron, Khan, Sadiya S., Bos, Daniel; id_orcid, Lloyd-Jones, Donald M., Zhu, Fang, Van Rooij, Jeroen; id_orcid, Mosley, Jonathan D., Greenland, Philip, Post, Wendy S., Bos, Maxime M., Budoff, Matthew J., Sedaghati-Khayat, Bahar, Tan, Jingyi   +17 more
core   +1 more source

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch, Nils Hartung, Robin A. Karge, Bobby Koeleman, Samuel F. Berkovic, Danielle M. Andrade, Francesca Bisulli, Antonio Gambardella, Renzo Guerrini, Ingrid E. Scheffer, Ingo Helbig, Wolfram S. Kunz, Holger Lerche, Hiltrud Muhle, Christian Boßelmann, Savvas S. Papacostas, Mark I. Rees, Sanjay M. Sisodiya, Pasquale Striano, Lynnette Sadleir, Yvonne Weber, Dennis Lal, Costin Leu, Philipp S. Reif, Stefan Wolking, Felix Rosenow, Karl Martin Klein, for the Epi25 Collaborative   +27 more
wiley   +1 more source

Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score. [PDF]

JAACAP Open
This page contains an interactive tool associated with the manuscript: 'Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic ...
de Wit MM, Morgan MJ, Libedinsky I, Austerberry C, Begeer S, Abdellaoui A, Ronald A, Polderman TJC.   +7 more
europepmc   +2 more sources

Empirical simulation related to "Inconsistent embryo selection across polygenic score methods"

Empirical simulation related to "Inconsistent embryo selection across polygenic score ...
Shinichi Namba
core   +1 more source

Polygenic risk score increases schizophrenia liability through cognition-relevant pathways [PDF]

, 2019
Cognitive deficit is thought to represent, at least in part, genetic mechanisms of risk for schizophrenia, with recent evidence from statistical modelling of twin data suggesting direct causality from the former to the latter.
Dickinson, D, Toulopoulou, T, Cherny, SS, Dickinson, D., Berman, K. F., Zhang, X., Sham, PC, Zhang, X, Straub, RE, Weinberger, DR, Toulopoulou, Timothea, Sham, P., Cherny, S., Straub, R. E., Weinberger, D. R., Berman, KF   +15 more
core   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Obesity Polygenic Risk and Healthy Lifestyle Interactions on Weight Trajectories in Women and Men

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Genetics and environmental factors contribute to obesity risk, but the extent to which healthy behaviors can offset genetic susceptibility remains unclear.
Aishi Ghosh, Meghan Lau, Anika Fernandes, Brian E. Cade, Elizabeth W. Karlson, Susan Redline, Richa Saxena, Tianyi Huang, Hassan S. Dashti   +8 more
doaj   +1 more source