Results 121 to 130 of about 67,612 (348)

Polygenic Risk Score in Africa Population: Progress and challenges [PDF]

, 2021
Yagoub Adam, Suraju Sadeeq, Judit Kumuthini, Olabode Ajayi, Gordon Wells, Solomon O. Rotimi, Olubanke Olujoke Ogunlana, Adetiba, Emmmanuel, Emeka Iweala, Benedikt Brors, Ezekiel Adebiyi   +10 more
openalex   +1 more source

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

Development and validation of a deep survival model to predict time to seizure from routine electroencephalography

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to develop and validate a deep survival model (EEGSurvNet) that analyzes routine electroencephalography (EEG) to predict individual seizure risk over time, comparing its performance to traditional clinical predictors such as interictal epileptiform discharges (IEDs).
Émile Lemoine, An Qi Xu, Mezen Jemel, Frédéric Lesage, Dang K. Nguyen, Elie Bou Assi   +5 more
wiley   +1 more source

Deep-learning prediction of cardiovascular outcomes from routine retinal images in individuals with type 2 diabetes

Cardiovascular Diabetology
Background Prior studies have demonstrated an association between retinal vascular features and cardiovascular disease (CVD), however most studies have only evaluated a few simple parameters at a time.
Mohammad Ghouse Syed, Emanuele Trucco, Muthu R. K. Mookiah, Chim C. Lang, Rory J. McCrimmon, Colin N. A. Palmer, Ewan R. Pearson, Alex S. F. Doney, Ify R. Mordi   +8 more
doaj   +1 more source

Understanding mechanisms of genetic risk for adolescent internalizing and externalizing problems: The mediating role of parenting and personality [PDF]

, 2018
Genetic predispositions play an important role in the development of internalizing and externalizing behaviors. Understanding the mechanisms through which genetic risk unfolds to influence these developmental outcomes is critical for developing ...
Bucholz, Kathleen K, Dick, Danielle M, Edenberg, Howard J, I-Chun Kuo, Sally, Kramer, John R, Schuckit, Marc, Su, Jinni   +6 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Polygenic Risk Score in Clinical Practice: A Review

Indian Journal of Clinical Cardiology
Cardiovascular diseases continue to be the leading cause of mortality and morbidity in the world. The prevalence has been changing with time in the developing and developed world.
Karthik Tummala
doaj   +1 more source

Supplementary Figure 1 from Polygenic Risk Score Modifies Prostate Cancer Risk of Pathogenic Variants in Men of African Ancestry

, 2023
Raymond W. Hughley, Marco Matejcic, Ziwei Song, Xin Sheng, Peggy Wan, Lucy Xia, Steven N. Hart, Chunling Hu, Siddhartha Yadav, Alexander Lubmawa, Vicky Kiddu, Frank Asiimwe, Colline Amanya, George Mutema, Kuteesa Job, Mbaaga K. Ssebakumba, Sue A. Ingles, Ann S. Hamilton, Fergus J. Couch, Stephen Watya, David V. Conti, Burcu F. Darst, Christopher A. Haiman   +22 more
openalex   +1 more source

Cell-type-specific Alzheimer’s disease polygenic risk scores are associated with distinct disease processes in Alzheimer’s disease [PDF]

, 2023
Hyun‐Sik Yang, Ling Teng, Daniel W. Kang, Vilas Menon, Tian Ge, Hilary K. Finucane, Aaron P. Schultz, Michael J Properzi, Hans‐Ulrich Klein, Lori B. Chibnik, Julie A. Schneider, David A. Bennett, Timothy J. Hohman, Richard Mayeux, Keith A. Johnson, Philip L. De Jager, Reisa A. Sperling   +16 more
openalex   +1 more source