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Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population

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Discovery of variants unmasked by hemizygous deletions

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Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

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Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms

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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

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Exome sequencing in 51 early onset non‐familial CRC cases

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Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis

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Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women

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Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline

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Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy

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Whole-exome Sequencing and an iPSC-Derived Cardiomyocyte Model Provides a Powerful Platform for Gene Discovery in Left Ventricular Hypertrophy

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Targeted Resequencing of Deafness Genes Reveals a FounderMYO15AVariant in Northeastern Brazil

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Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

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The genome of the tegu lizard Salvator merianae: combining Illumina, PacBio, and optical mapping data to generate a highly contiguous assembly

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Mutations in sphingolipid metabolism genes are associated with ADHD

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