Results 211 to 220 of about 65,839 (347)

Polygenic Risk Scores in Familial Hypercholesterolemia

Journal of the American College of Cardiology, 2019
Daniel J, Rader, Samip, Sheth
openaire   +2 more sources

Population‐based cohort validation and replication reveals limited generalizability of cluster‐based MASLD subtypes

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims MASLD, defined as a steatotic liver disease in the presence of one or more cardiometabolic risk factors and the absence of harmful alcohol intake, exhibits substantial heterogeneity complicating risk stratification. A prior clustering model proposed liver‐specific and cardiometabolic subtypes, yet its generalizability and prognostic ...
Junjie Wu, Weiwei Xu, Guyu Zeng, Junfeng Wang   +3 more
wiley   +1 more source

Polygenic risk score (PRS) as prostate cancer screening: ready for primetime? [PDF]

Ann Transl Med
Park J, Aragon-Ching JB.
europepmc   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort. [PDF]

Sci Rep
Neylan CJ, Ueland T, Abramowitz SA, DePaolo JS, Tsao NL, Roberson JL, Hawkins AT, Carey DJ, Smelser DT, Levin MG, Hoffman RL, Damrauer SM, Maguire LH.   +12 more
europepmc   +1 more source

Enhancing Suicide Risk Prediction With Polygenic Scores in Psychiatric Emergency Settings: Prospective Study

Young A Lee, Yingzhe Zhang, Chris J. Kennedy, Travis T. Mallard, Zhaowen Liu, Phuong Linh Vu, Yen‐Chen Anne Feng, Tian Ge, Maria Petukhova, Ronald C. Kessler, Matthew K. Nock, Jordan W. Smoller   +11 more
openalex   +1 more source

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan, M. Scott Perry, Ingrid E. Scheffer, James Wheless, Susana Boronat, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Gerard Gioia, Rebecca Shaffer, Madison M. Berl, Mary Wojnaroski, Sarah Christensen, Alexander King, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +28 more
wiley   +1 more source

UNAFFECTED RELATIVES WITH HIGH IBD POLYGENIC RISK SCORES FROM MULTIPLEX CROHN’S DISEASE FAMILIES CARRY MICROBIOMES THAT PROTECT IL-10 DEFICIENT MICE AGAINST INTESTINAL INFLAMMATION [PDF]

Lea Ann Chen, Huilin Li, Drew R. Jones, Chan Wang, Dalin Li, Arielle Radin, Jessica L. Baylor, Lily Deng, Susan Cataldo, Tanima Kundu, Jing Shen, Ashley I. Bush, Rohit Aita, Brett Hahn, Lia Ficaro, Talin Haritunians, Emebet Mengesha, Zoya Grigoryan, Jiyuan Hu, R. Balfour Sartor, Dermot McGovern, Martin J. Blaser   +21 more
openalex   +1 more source

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background

Epilepsia, EarlyView.
Abstract Objective The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counseling and individualized treatment. Penetrance is usually considered to be high or full, although this has never been studied in population cohorts.
Remi Stevelink, M. Martijn Piet, Yorgos Bos, Ruben van ’t Slot, Kees P. J. Braun, Bobby P. C. Koeleman   +5 more
wiley   +1 more source

Systemic inflammation, polygenic risk score, and risk of incident abdominal aortic aneurysm in the UK biobank. [PDF]

BMC Public Health
Pu H, Qiu P, Guo H, Lei J, Liu Y, Wei W, Hu J, Qin J, Wang R, Ye K, Xu Z, Wu Z, Lu X, Zhou Z.   +13 more
europepmc   +1 more source