MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48. CAS PubMed Google Scholar Carey IM,…
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores
Ethics declarations Patients and control participants in FinnGen provided informed consent for biobank research, based on the Finnish…
Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity
BRG1 binding exhibits a linear response to its dosage In mES cells, Brg1 encodes the major catalytic subunit…
Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
Tracing the evolution of single-cell 3D genomes in Kras-driven cancers
Ethics Statement All animal studies were approved by the Institutional Animal Care and Use Committee of Yale University.…
Neurobehavioral profile of individuals with pathogenic variants in CHD3
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…