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Big data phenotyping in rare diseases: some ethical issues.

Journal article

Hallowell N. et al, (2018), Genet med

Towards Deep Cellular Phenotyping in Placental Histology

Conference paper

Ferlaino M. et al, (2018)

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

Journal article

Reijnders MRF. et al, (2018), American journal of human genetics, 102, 1195 - 1203

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

Journal article

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

Mining faces from biomedical literature using deep learning

Conference paper

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.

Journal article

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

Journal article

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

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

Journal article

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

Diagnostically relevant facial gestalt information from ordinary photos.

Journal article

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

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

Journal article

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

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

Journal article

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

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

Journal article

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

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

Journal article

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

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

Journal article

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

Rapid turnover of functional sequence in human and other genomes.

Journal article

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

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