Publications

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

Reijnders MRF. et al, (2018), Journal of medical genetics, 55, 104 - 113

Mining faces from biomedical literature using deep learning

Dawson M. et al, (2017), ACM-BCB 2017 - Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics, 562 - 567

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

Bengani H. et al, (2017), Genetics in medicine : official journal of the American College of Medical Genetics, 19, 900 - 908

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

Nellaker C. et al, (2017), Genetics in Medicine

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study None., (2017), Nature, 542, 433 - 438

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

Mannion NM. et al, (2014), Cell reports, 9, 1482 - 1494

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

Ansari M. et al, (2014), Journal of medical genetics, 51, 659 - 668

Diagnostically relevant facial gestalt information from ordinary photos.

Ferry Q. et al, (2014), eLife, 3

Transcriptional derepression of the ERVWE1 locus following influenza A virus infection.

Li F. et al, (2014), Journal of virology, 88, 4328 - 4337

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

Ansari M. et al, (2014), Journal of Medical Genetics, 51, 659 - 668

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

Nellåker C. et al, (2012), Genome biology, 13

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

Danecek P. et al, (2012), Genome biology, 13

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane TM. et al, (2011), Nature, 477, 289 - 294

Sequence-based characterization of structural variation in the mouse genome.

Yalcin B. et al, (2011), Nature, 477, 326 - 329

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

Li F. et al, (2011), BMC genomics, 12

Rapid turnover of functional sequence in human and other genomes.

Ponting CP. et al, (2011), Annual review of genomics and human genetics, 12, 275 - 299

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

Nellåker C. et al, (2009), BMC genomics, 10

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

Yao Y. et al, (2008), Genes, brain, and behavior, 7, 103 - 112

Endogenous retroviruses and human neuropsychiatric disorders

Yolken RH. et al, (2008), RETROTRANSPOSITION, DIVERSITY AND THE BRAIN, 65 - +

Mixture models for analysis of melting temperature data.

Nellåker C. et al, (2008), BMC bioinformatics, 9

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Publications