Results 161 to 170 of about 680,915 (266)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Toward building a comprehensive human pan-genome: The SEN-GENOME project. [PDF]

Am J Hum Genet
Gaye A, Sene ARG, Gadji M, Deme A, Cisse A, Ndiaye R.   +5 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study. [PDF]

Hum Genomics
Chu AT, Sze SY, Tse DM, Lai CW, Ng CS, Yu CW, Chung PH, Pang FC, Chung BH, Lo SV, Quan J.   +10 more
europepmc   +1 more source

GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. [PDF]

Front Genet, 2020
Guerra-Assunção JA, Conde L, Moghul I, Webster AP, Ecker S, Chervova O, Chatzipantsiou C, Prieto PP, Beck S, Herrero J.   +9 more
europepmc   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. [PDF]

Lancet Reg Health West Pac
Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY, Lo SV, Hong Kong Genome Project.   +38 more
europepmc   +1 more source

Korean Genome Project: 1094 Korean personal genomes with clinical information. [PDF]

Sci Adv, 2020
Jeon S, Bhak Y, Choi Y, Jeon Y, Kim S, Jang J, Jang J, Blazyte A, Kim C, Kim Y, Shim J, Kim N, Kim YJ, Park SG, Kim J, Cho YS, Park Y, Kim HM, Kim BC, Park NH, Shin ES, Kim BC, Bolser D, Manica A, Edwards JS, Church G, Church G, Lee S, Bhak J.   +28 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project. [PDF]

Hum Genet
Ying D, Kwok JSL, Chu ATW, Ma W, Tam HYF, Or D, Hue SPY, Hong Kong Genome Project, Li Q, Leung CKS, Chung BHY.   +10 more
europepmc   +1 more source