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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Journal article

Cogné B. et al, (2019), American journal of human genetics, 104, 530 - 541

Big data phenotyping in rare diseases: some ethical issues.

Journal article

Hallowell N. et al, (2019), Genetics in medicine : official journal of the American College of Medical Genetics, 21, 272 - 274

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

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Nellåker C. et al, (2019), Frontiers in genetics, 10

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

Journal article

van der Donk R. et al, (2018), Genetics in medicine : official journal of the American College of Medical Genetics

From Same Photo: Cheating on Visual Kinship Challenges

Conference paper

Dawson M. et al, (2018)

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.

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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

Prevalence and architecture of de novo mutations in developmental disorders.

Journal article

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

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

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