Results 331 to 340 of about 2,048,763 (395)

Retraction Note: Genome assembly of M. spongiola and comparative genomics of the genus Morchella provide initial insights into taxonomy and adaptive evolution. [PDF]

BMC Genomics
Meng Q, Xie Z, Xu H, Guo J, Peng Q, Li Y, Yang J, Dong D, Gao T, Zhang F.   +9 more
europepmc   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

A Value Framework for Evaluating Population Genomic Programs: A Mixed Methods Approach. [PDF]

J Pers Med
Campbell D, Spencer S, Kang A, Pandey R, Katsandres S, Veenstra D.   +5 more
europepmc   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova, Teresa Fazia, Giovanni Di Caprio, Davide Gentilini, Luisa Bernardinelli, Roberto Bergamaschi   +5 more
wiley   +1 more source

How participation in deliberative engagement affects awareness of, and attitudes towards, genomics research and data sharing: evidence from rural Ghana. [PDF]

BMC Med Ethics
Tsey IH, Selormey PE, Ganle J, Akweongo P, Tindana P.   +4 more
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers. [PDF]

Front Med (Lausanne)
Dunlop KLA, Singh N, Smit AK, Morrow AL, Steinberg J, Cust AE, Makeham M, Bonner C, Terrill B, Monrouxe LV, Wilkinson D, Sawleshwarkar S, Ma AS.   +12 more
europepmc   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource. [PDF]

Eur J Hum Genet
McGahan E, Berkman J, Milne D, Terrill B, Gear R, Gardiner S, Eckstein L, Nicol D, Taylor N, Winship I, McWhirter R, Nisselle A, Lodge J, McInerney-Leo A.   +13 more
europepmc   +1 more source