Results 191 to 200 of about 1,650,847 (244)

Defining Age to Screen and Real‐World Effectiveness for Early‐Onset Colorectal Cancer

Cancer Science, EarlyView.
Implementation of a RAP‐based risk‐adapted screening strategy enables personalized screening initiation, with benefits comparable to those observed in the current 50–54‐year age group.
Le Wang, Yu Qiu, Xuechen Chen, Weimiao Wu, Chen Zhu, Weiwei Chen, Tingting Pan, Dong Hang, Lingbin Du   +8 more
wiley   +1 more source

Evaluation of a Mitochondrial Polygenic Score for Parkinson's Disease Across Ancestries. [PDF]

Mov Disord
Ooi JCE, Tay YW, Tan AH, Lin CH, Brolin KA, Laabs BH, Sendel S, König IR, Caliebe A, Gabbert C, Andersh KM, Jones L, Lange LM, Fiske B, Sue C, Klein C, Trinh J, Lüth T, Global Parkinson's Genetics Program (GP2).   +18 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Adolescent pain reports share genetic overlap with adult chronic pain conditions: A polygenic score analysis using the ABCD study. [PDF]

J Pain
Rader L, Zorina-Lichtenwalter K, Gustavson DE, Wager TD, Friedman NP.   +4 more
europepmc   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Validation of a genome-wide polygenic score for body mass index in South Asians. [PDF]

Front Genet
Menon R, Khan N, Charugulla S, Bassi A, Dangare P, Dedaniya A, Pant A, Anjanappa R, Samson PL, Satagopan U, Murugan S, Naikawadi A, Ramprasad VL, Gupta R.   +13 more
europepmc   +1 more source

Evidence Gaps in Prediction Tools for Follow Up After Localised Melanoma

Australasian Journal of Dermatology, EarlyView.
Deonna M. Ackermann, Xu Huang, Ellie Medcalf, Katy J. L. Bell   +3 more
wiley   +1 more source

Genetically Proxied GIP‐GIPR Pathway Perturbation and Fracture Risk

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To determine whether genetic proxies for incretin pathway perturbation are associated with fracture risk and bone mineral density, providing human genetic evidence relevant to the skeletal safety of incretin‐based therapies. Materials and Methods We conducted drug‐target Mendelian randomisation using cis genetic variants near GIP, GIPR ...
Wenjie Cheng, Weijie Liu, Jie Wei, Chao Zeng, Houchen Lyu, Sizheng Steven Zhao   +5 more
wiley   +1 more source

Polygenic score prediction of psychopathology dimensions and diagnoses within and between families

Lin Y, Procopio F, Keser E, Kawakami K, Eley T, Rimfeld K, Malanchini M, Plomin R.   +7 more
europepmc   +1 more source

Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction. [PDF]

Nat Genet
Xu C, Ganesh SK, Zhou X.
europepmc   +1 more source