User profiles for "author:Christoffer Nellåker"

Christoffer Nellåker

Oxford University
Verified email at wrh.ox.ac.uk
Cited by 4761

[HTML][HTML] Mouse genomic variation and its effect on phenotypes and gene regulation

TM Keane, L Goodstadt, P Danecek, MA White… - Nature, 2011 - nature.com
We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten
times more variants than previously known. We use these genomes to explore the …

[PDF][PDF] The RNA-editing enzyme ADAR1 controls innate immune responses to RNA

NM Mannion, SM Greenwood, R Young, S Cox… - Cell reports, 2014 - cell.com
The ADAR RNA-editing enzymes deaminate adenosine bases to inosines in cellular RNAs.
Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi …

Sequence-based characterization of structural variation in the mouse genome

B Yalcin, K Wong, A Agam, M Goodson, TM Keane… - Nature, 2011 - nature.com
Structural variation is widespread in mammalian genomes, and is an important cause of
disease, but just how abundant and important structural variants (SVs) are in shaping …

Turning a blind eye: Explicit removal of biases and variation from deep neural network embeddings

M Alvi, A Zisserman, C Nellåker - Proceedings of the …, 2018 - openaccess.thecvf.com
Neural networks achieve the state-of-the-art in image classification tasks. However, they can
encode spurious variations or biases that may be present in the training data. For example …

Diagnostically relevant facial gestalt information from ordinary photos

Q Ferry, J Steinberg, C Webber, DR FitzPatrick… - elife, 2014 - elifesciences.org
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing
genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare …

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

C Nellåker, TM Keane, B Yalcin, K Wong, A Agam… - Genome biology, 2012 - Springer
Background Transposable element (TE)-derived sequence dominates the landscape of
mammalian genomes and can modulate gene function by dysregulating transcription and …

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

P Danecek, C Nellåker, RE McIntyre… - Genome biology, 2012 - Springer
Background Adenosine-to-inosine (A-to-I) editing is a site-selective post-transcriptional
alteration of double-stranded RNA by ADAR deaminases that is crucial for homeostasis and …

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

M Ansari, G Poke, Q Ferry, K Williamson… - Journal of medical …, 2014 - jmg.bmj.com
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

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

C Nellåker, Y Yao, L Jones-Brando, F Mallet… - Retrovirology, 2006 - Springer
Background Aberrant expression of human endogenous retrovirus (HERV) elements in the
W family has previously been associated with schizophrenia, multiple sclerosis and …

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

Y Yao, C Nellåker, H Karlsson - Molecular and cellular probes, 2006 - Elsevier
Real-time PCR assays using 3′-minor groove binder (MGB) or Taqman probes are widely
used for clinical virological testing and mutation/polymorphism detection. We compared a …