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Christoffer Nellåker
Christoffer Nellåker
Verified email at wrh.ox.ac.uk - Homepage
Title
Cited by
Cited by
Year
Mouse genomic variation and its effect on phenotypes and gene regulation
TM Keane, L Goodstadt, P Danecek, MA White, K Wong, B Yalcin, ...
Nature 477 (7364), 289-294, 2011
16632011
The RNA-editing enzyme ADAR1 controls innate immune responses to RNA
NM Mannion, SM Greenwood, R Young, S Cox, J Brindle, D Read, ...
Cell reports 9 (4), 1482-1494, 2014
6112014
Sequence-based characterization of structural variation in the mouse genome
B Yalcin, K Wong, A Agam, M Goodson, TM Keane, X Gan, C Nellåker, ...
Nature 477 (7364), 326-329, 2011
3392011
Turning a blind eye: Explicit removal of biases and variation from deep neural network embeddings
M Alvi, A Zisserman, C Nellåker
Proceedings of the European conference on computer vision (ECCV) workshops, 0-0, 2018
2982018
Diagnostically relevant facial gestalt information from ordinary photos
Q Ferry, J Steinberg, C Webber, DR FitzPatrick, CP Ponting, A Zisserman, ...
elife 3, e02020, 2014
2102014
The genomic landscape shaped by selection on transposable elements across 18 mouse strains
C Nellåker, TM Keane, B Yalcin, K Wong, A Agam, TG Belgard, J Flint, ...
Genome biology 13, 1-21, 2012
2042012
Transactivation of elements in the human endogenous retrovirus W family by viral infection
C Nellåker, Y Yao, L Jones-Brando, F Mallet, RH Yolken, H Karlsson
Retrovirology 3, 1-11, 2006
1942006
High levels of RNA-editing site conservation amongst 15 laboratory mouse strains
P Danecek, C Nellåker, RE McIntyre, JE Buendia-Buendia, S Bumpstead, ...
Genome biology 13, 1-12, 2012
1882012
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, R Aldridge, AM Meynert, ...
Journal of medical genetics 51 (10), 659-668, 2014
1872014
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 20 (5), 311-316, 2006
1332006
Elevated levels of human endogenous retrovirus‐W transcripts in blood cells from patients with first episode schizophrenia
Y Yao, J Schröder, C Nellåker, C Bottmer, S Bachmann, RH Yolken, ...
Genes, Brain and Behavior 7 (1), 103-112, 2008
932008
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...
Journal of medical genetics 55 (2), 104-113, 2018
872018
Transcriptional Derepression of the ERVWE1 Locus following Influenza A Virus Infection
F Li, C Nellåker, S Sabunciyan, RH Yolken, L Jones-Brando, ...
Journal of virology 88 (8), 4328-4337, 2014
712014
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
H Bengani, M Handley, M Alvi, R Ibitoye, M Lees, SA Lynch, W Lam, ...
Genetics in Medicine 19 (8), 900-908, 2017
602017
De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder
MRF Reijnders, KA Miller, M Alvi, JAC Goos, MM Lees, A De Burca, ...
The American Journal of Human Genetics 102 (6), 1195-1203, 2018
502018
Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability
B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ...
The American Journal of Human Genetics 104 (3), 530-541, 2019
492019
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
R van der Donk, S Jansen, JHM Schuurs-Hoeijmakers, DA Koolen, ...
Genetics in Medicine 21 (8), 1719-1725, 2019
472019
The case for open science: rare diseases
YR Rubinstein, PN Robinson, WA Gahl, P Avillach, G Baynam, ...
JAMIA open 3 (3), 472-486, 2020
452020
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ...
The American Journal of Human Genetics 108 (2), 346-356, 2021
432021
A call for global action for rare diseases in Africa
GS Baynam, S Groft, FH van der Westhuizen, SD Gassman, K du Plessis, ...
Nature genetics 52 (1), 21-26, 2020
432020
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