All Stories

  1. Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
  2. Novel findings in a Swedish primary familial brain calcification cohort
  3. Spinocerebellar ataxia type 4 is caused by a GGC expansion in theZFHX3gene and is associated with prominent dysautonomia and motor neuron signs
  4. Transposable element insertions in 1000 Swedish individuals
  5. Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
  6. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
  7. Identification and Interpretation of Clinically Relevant Somatic Variants from Whole-Genome Sequencing Data
  8. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
  9. PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
  10. Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
  11. Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
  12. Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
  13. Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
  14. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
  15. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
  16. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
  17. Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients
  18. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
  19. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
  20. Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
  21. Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells
  22. Heterozygous variants in DCC
  23. Cytogenetically visible inversions are formed by multiple molecular mechanisms
  24. Loqusdb: added value of an observations database of local genomic variation
  25. pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing
  26. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
  27. Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
  28. Discovery of Novel Sequences in 1,000 Swedish Genomes
  29. Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
  30. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
  31. Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
  32. Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth
  33. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
  34. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
  35. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
  36. Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort
  37. AMYCNE: Confident copy number assessment using whole genome sequencing data
  38. High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
  39. Two novel colorectal cancer risk loci in the region on chromosome 9q22.32
  40. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
  41. Correction for Ekanayake et al., “Epigenetic Regulation of Transcription and Virulence in Trypanosoma cruzi by O-Linked Thymine Glucosylation of DNA”
  42. TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data
  43. Structural variant calling from whole genome sequencing data.
  44. Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
  45. A Large Inversion InvolvingGNASExon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
  46. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
  47. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
  48. Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing
  49. Exome sequencing in one family with gastric- and rectal cancer
  50. Pathogenenic variant in theCOL2A1gene is associated with Spondyloepiphyseal dysplasia type Stanescu
  51. Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
  52. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
  53. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
  54. Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
  55. CTNND2—a candidate gene for reading problems and mild intellectual disability
  56. Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome
  57. Autosomal recessive mutations in theCOL2A1gene cause severe spondyloepiphyseal dysplasia
  58. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
  59. Identification of three novelFGF16mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
  60. A novel stop mutation in the EDNRB gene in a family with Hirschsprung’s disease associated with Multiple Sclerosis
  61. An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
  62. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  63. Different mutations inPDE4Dassociated with developmental disorders with mirror phenotypes
  64. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT
  65. The genome of the heartworm, Dirofilaria immitis, reveals drug and vaccine targets
  66. Autoregulation of the nonsense-mediated mRNA decay pathway in human cells
  67. The Short Non-Coding Transcriptome of the Protozoan Parasite Trypanosoma cruzi
  68. Genome-Wide Identification of Molecular Mimicry Candidates in Parasites
  69. Epigenetic Regulation of Transcription and Virulence in Trypanosoma cruzi by O-Linked Thymine Glucosylation of DNA
  70. Phylogenomics of Ligand-Gated Ion Channels Predicts Monepantel Effect
  71. Spliced Leader Trapping Reveals Widespread Alternative Splicing Patterns in the Highly Dynamic Transcriptome of Trypanosoma brucei
  72. The Trypanosoma brucei MitoCarta and its regulation and splicing pattern during development
  73. var gene transcription dynamics in Plasmodium falciparum patient isolates
  74. Comparative genomics of metabolic networks of free-living and parasitic eukaryotes
  75. Proteomics in Trypanosoma cruzi - localization of novel proteins to various organelles
  76. Database of Trypanosoma cruzi repeated genes: 20 000 additional gene variants
  77. PfEMP1-DBL1α amino acid motifs in severe disease states of Plasmodium falciparum malaria
  78. Characterization of a Trypanosoma cruzi acetyltransferase: cellular location, activity and structure☆
  79. GRAT—genome-scale rapid alignment tool
  80. Repetitive DNA is associated with centromeric domains in Trypanosoma brucei but not Trypanosoma cruzi
  81. A Solanesyl-diphosphate Synthase Localizes in Glycosomes ofTrypanosoma cruzi
  82. Messenger RNA processing sites in Trypanosoma brucei
  83. The Genome Sequence of Trypanosoma cruzi, Etiologic Agent of Chagas Disease
  84. Comparative Genomics of Trypanosomatid Parasitic Protozoa
  85. Strand asymmetry patterns in trypanosomatid parasites
  86. A graphical tool for parasite genome annotation
  87. Expressed sequence tag analysis of Sarcoptes scabiei
  88. Selective Charging of tRNA Isoacceptors Explains Patterns of Codon Usage