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CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
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A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
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A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
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Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
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JHG Young Scientist Award 2023
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Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
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Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK
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Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
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Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
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Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies
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Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations
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Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
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Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
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Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia
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Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals
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Correction: Genetics of autism spectrum disorders and future direction
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Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets
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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
Benign adult familial myoclonic epilepsy type 1 (BAFME1) is an autosomal dominant, adult-onset neurological disease caused...
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