List of works - Daniel Nilsson

The Trypanosoma brucei MitoCarta and its regulation and splicing pattern during development

scientific article

The Genome Sequence of Trypanosoma cruzi, Etiologic Agent of Chagas Disease

scientific article

Comparative genomics of trypanosomatid parasitic protozoa

scientific article (publication date: 15 July 2005)

Selective charging of tRNA isoacceptors explains patterns of codon usage

scientific article

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

scientific article published on 25 October 2011

The genome of the heartworm, Dirofilaria immitis, reveals drug and vaccine targets

scientific article

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

scientific article

PfEMP1-DBL1alpha amino acid motifs in severe disease states of Plasmodium falciparum malaria

scholarly article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Messenger RNA processing sites in Trypanosoma brucei.

scientific article published in October 2005

Repetitive DNA is associated with centromeric domains in Trypanosoma brucei but not Trypanosoma cruzi.

scientific article

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

scientific article

Proteomics in Trypanosoma cruzi--localization of novel proteins to various organelles

scientific article published on July 2008

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Phylogenomics of ligand-gated ion channels predicts monepantel effect

scientific article

Database of Trypanosoma cruzi repeated genes: 20,000 additional gene variants

scientific article

The short non-coding transcriptome of the protozoan parasite Trypanosoma cruzi

scientific article

Epigenetic regulation of transcription and virulence in Trypanosoma cruzi by O-linked thymine glucosylation of DNA.

scientific article

A solanesyl-diphosphate synthase localizes in glycosomes of Trypanosoma cruzi

scientific article published on 24 October 2006

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

scientific article published on 16 November 2016

var gene transcription dynamics in Plasmodium falciparum patient isolates

scientific article published on 16 December 2009

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

scientific article

Genome-wide identification of molecular mimicry candidates in parasites

scientific article

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

scientific article published on 10 May 2017

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

scientific article

Expressed sequence tag analysis of Sarcoptes scabiei.

scientific article

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

CTNND2-a candidate gene for reading problems and mild intellectual disability

scientific article published on 3 December 2014

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

scientific article published on 15 November 2016

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

scientific article published on 20 March 2017

Exome sequencing in one family with gastric- and rectal cancer

scientific article published on 13 February 2016

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

scientific article published on 14 May 2014

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

scientific article published on 13 January 2017

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

scientific article published on 14 January 2014

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

scientific article published on 23 June 2015

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

scientific article published on 29 March 2018

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

scientific article published on 10 February 2015

Strand asymmetry patterns in trypanosomatid parasites.

scientific article published in March 2005

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

scientific article published on 26 March 2015

Comparative genomics of metabolic networks of free-living and parasitic eukaryotes

scientific article

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

scientific article published on 07 November 2019

AMYCNE: Confident copy number assessment using whole genome sequencing data.

scientific article published on 26 March 2018

Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer.

scientific article

A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis

scientific article

Discovery of Novel Sequences in 1,000 Swedish Genomes

scientific article published on 01 January 2020

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

article

Characterization of a Trypanosoma cruzi acetyltransferase: cellular location, activity and structure.

scientific article

List of works by Daniel Nilsson

The Trypanosoma brucei MitoCarta and its regulation and splicing pattern during development

The Genome Sequence of Trypanosoma cruzi, Etiologic Agent of Chagas Disease

Comparative genomics of trypanosomatid parasitic protozoa

Selective charging of tRNA isoacceptors explains patterns of codon usage

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

The genome of the heartworm, Dirofilaria immitis, reveals drug and vaccine targets

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

PfEMP1-DBL1alpha amino acid motifs in severe disease states of Plasmodium falciparum malaria

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Messenger RNA processing sites in Trypanosoma brucei.

Repetitive DNA is associated with centromeric domains in Trypanosoma brucei but not Trypanosoma cruzi.

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

Proteomics in Trypanosoma cruzi--localization of novel proteins to various organelles

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Phylogenomics of ligand-gated ion channels predicts monepantel effect

Database of Trypanosoma cruzi repeated genes: 20,000 additional gene variants

The short non-coding transcriptome of the protozoan parasite Trypanosoma cruzi

Epigenetic regulation of transcription and virulence in Trypanosoma cruzi by O-linked thymine glucosylation of DNA.

A solanesyl-diphosphate synthase localizes in glycosomes of Trypanosoma cruzi

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

var gene transcription dynamics in Plasmodium falciparum patient isolates

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Genome-wide identification of molecular mimicry candidates in parasites

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Expressed sequence tag analysis of Sarcoptes scabiei.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

CTNND2-a candidate gene for reading problems and mild intellectual disability

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Exome sequencing in one family with gastric- and rectal cancer

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

Strand asymmetry patterns in trypanosomatid parasites.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

Comparative genomics of metabolic networks of free-living and parasitic eukaryotes

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

AMYCNE: Confident copy number assessment using whole genome sequencing data.

Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer.

A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis

Discovery of Novel Sequences in 1,000 Swedish Genomes

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Characterization of a Trypanosoma cruzi acetyltransferase: cellular location, activity and structure.

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability