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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

Journal article

White SM. et al, (2021), American journal of human genetics, 108, 749 - 756

The case for open science: rare diseases.

Journal article

Rubinstein YR. et al, (2020), JAMIA open, 3, 472 - 486

A call for global action for rare diseases in Africa.

Journal article

Baynam GS. et al, (2020), Nature genetics, 52, 21 - 26

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.

Journal article

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.

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

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