List of works - Christoffer Nellåker

A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation

scientific article

Big data phenotyping in rare diseases: some ethical issues

scientific article published on 01 February 2019

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

scientific article

Diagnostically relevant facial gestalt information from ordinary photos

scientific article published on 24 June 2014

Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia.

scientific article

Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification

scientific article published on 21 April 2006

Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues

scientific article

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

scientific article

Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.

scientific article published on January 2007

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

scientific article published on 14 August 2020

Mixture models for analysis of melting temperature data

scientific article

Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry

scientific article published on 16 November 2006

Mouse genomic variation and its effect on phenotypes and gene regulation

scientific article (publication date: 14 September 2011)

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

scientific article published on 2 November 2017

Rapid turnover of functional sequence in human and other genomes

scientific article published on January 2011

Sequence-based characterization of structural variation in the mouse genome

scientific article

The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

scientific article

The genomic landscape shaped by selection on transposable elements across 18 mouse strains

scientific article

Transactivation of elements in the human endogenous retrovirus W family by viral infection

scientific article published on 6 July 2006

Transcriptional derepression of the ERVWE1 locus following influenza A virus infection

scientific article published on 29 January 2014

List of works by Christoffer Nellåker

A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation

Big data phenotyping in rare diseases: some ethical issues

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Diagnostically relevant facial gestalt information from ordinary photos

Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia.

Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification

Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

Mixture models for analysis of melting temperature data

Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry

Mouse genomic variation and its effect on phenotypes and gene regulation

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Rapid turnover of functional sequence in human and other genomes

Sequence-based characterization of structural variation in the mouse genome

The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

The genomic landscape shaped by selection on transposable elements across 18 mouse strains

Transactivation of elements in the human endogenous retrovirus W family by viral infection

Transcriptional derepression of the ERVWE1 locus following influenza A virus infection