List of works - Daniel Nilsson

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

A graphical tool for parasite genome annotation.

scientific article published in January 2004

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

scientific article

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

scientific article

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

scientific article

A solanesyl-diphosphate synthase localizes in glycosomes of Trypanosoma cruzi

scientific article published on 24 October 2006

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

scientific article published on 26 March 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

scientific article published on 22 August 2018

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

scientific article published on 14 January 2014

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

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

scientific article published on 24 September 2019

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

scientific article published on 25 October 2011

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

article

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

scientific article published on 3 December 2014

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

scientific article

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

scientific article

Comparative genomics of trypanosomatid parasitic protozoa

scientific article (publication date: 15 July 2005)

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

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

scientific article

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

scientific article published on 7 November 2013

Discovery of Novel Sequences in 1,000 Swedish Genomes

scientific article published on 01 January 2020

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

scientific article

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

scientific article published on 29 March 2018

Exome sequencing in one family with gastric- and rectal cancer

scientific article published on 13 February 2016

Expressed sequence tag analysis of Sarcoptes scabiei.

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

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

scientific article published on 20 March 2017

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

scientific article published on 01 May 2019

GRAT--genome-scale rapid alignment tool.

scientific article published on 9 February 2007

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

scientific article

Genome-wide identification of molecular mimicry candidates in parasites

scientific article

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

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

scientific article published on 12 March 2018

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

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

scientific article published in PLoS ONE

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

Messenger RNA processing sites in Trypanosoma brucei.

scientific article published in October 2005

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

scientific article published on 10 February 2015

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)

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

scientific article published on 22 October 2019

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

scientific article published on 30 September 2015

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

scientific article published on 22 February 2022

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

scholarly article

Phylogenomics of ligand-gated ion channels predicts monepantel effect

scientific article

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

scientific article published on July 2008

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

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

Selective charging of tRNA isoacceptors explains patterns of codon usage.

scientific article

Strand asymmetry patterns in trypanosomatid parasites.

scientific article published in March 2005

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

scientific article

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

scientific article published on 10 May 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

scientific article published on 29 January 2018

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

scientific article published on 23 June 2015

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

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

scientific article published on 26 March 2015

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

scientific article

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

scientific article published on 03 April 2020

var gene transcription dynamics in Plasmodium falciparum patient isolates

scientific article published on 16 December 2009

List of works by Daniel Nilsson

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

A graphical tool for parasite genome annotation.

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

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

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

A solanesyl-diphosphate synthase localizes in glycosomes of Trypanosoma cruzi

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

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

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

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

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

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

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

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

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

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

Comparative genomics of trypanosomatid parasitic protozoa

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

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

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

Discovery of Novel Sequences in 1,000 Swedish Genomes

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

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

Exome sequencing in one family with gastric- and rectal cancer

Expressed sequence tag analysis of Sarcoptes scabiei.

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

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

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

GRAT--genome-scale rapid alignment tool.

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

Genome-wide identification of molecular mimicry candidates in parasites

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

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

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

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

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

Messenger RNA processing sites in Trypanosoma brucei.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

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

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

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

Phylogenomics of ligand-gated ion channels predicts monepantel effect

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

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

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

Selective charging of tRNA isoacceptors explains patterns of codon usage.

Strand asymmetry patterns in trypanosomatid parasites.

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

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

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

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

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

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

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

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

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

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

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

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

var gene transcription dynamics in Plasmodium falciparum patient isolates