Results 181 to 190 of about 244,292 (300)

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Transformer-based InsightGWAS improves GERD genetic discovery via pretraining on GWAS for major depressive disorder. [PDF]

Commun Biol
Wei Y, Meng Z, Wang X, Jiang Y, Ding H, Peng B, Song Y, Gao M, Zhang G, Zhang N, Chang X.   +10 more
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

GWAS Matrix

, 2021
benjamin jaegle
openalex   +2 more sources

MendelR: A One‐Stop R Toolkit for Mendelian Randomization Analysis

Med Research, EarlyView.
ABSTRACT MendelR is a fully automated R package specifically developed for Mendelian randomization (MR) studies, designed to address the technical challenges of causal inference in biomedical research. As a powerful causal inference method, Mendelian randomization can effectively reduce confounding bias in observational studies.
Xiaohong Ke, Kailai Li, Anqi Lin, Yasi Zhang, Peng Luo   +4 more
wiley   +1 more source

GENEasso: a curated resource of credible disease-gene associations across complex diseases from GWAS summary statistics. [PDF]

Nucleic Acids Res
Jiang T, Shao M, Wang J, Wu P, Zhu C, Tang R, Cao C, Gu N.   +7 more
europepmc   +1 more source

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

, 2022
C.G. Downie, S.F. Dimos, S.A. Bien, Y. Hu, B.F. Darst, L.M. Polfus, Y. Wang, G.L. Wojcik, R. Tao, L.M. Raffield, N.D. Armstrong, H.G. Polikowsky, J.E. Below, A. Correa, M.R. Irvin, L.J.F. Rasmussen-Torvik, C.S. Carlson, L.S. Phillips, S. Liu, J.S. Pankow, S.S. Rich, J.I. Rotter, S. Buyske, T.C. Matise, K.E. North, C.L. Avery, C.A. Haiman, R.J.F. Loos, C. Kooperberg, M. Graff, H.M. Highland   +30 more
openalex   +1 more source

Applications and Challenges of Digital Health in Rheumatology

iNew Medicine, EarlyView.
Xiao‐Xiao Li, Xue‐Er Cheng, Ming‐Ming Zhang, Peng Wang, Hai‐Feng Pan   +4 more
wiley   +1 more source

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

Integrated genome-wide domestication and association analyses reveal the complex genetic basis of parthenocarpy during cucumber domestication. [PDF]

Mol Hortic
Zhu P, Wang S, Meng Y, Diao W, Yu X, Wang Y, Li J, Chen J.   +7 more
europepmc   +1 more source