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The case for open science: rare diseases.

Journal article

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

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

Journal article

Glastonbury CA. et al, (2020), PLOS Computational Biology, 16, e1008044 - e1008044

A call for global action for rare diseases in Africa.

Journal article

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

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

Journal article

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

Big data phenotyping in rare diseases: some ethical issues

Journal article

Hallowell N. et al, (2019), Genetics in Medicine, 21, 272 - 274

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), The 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

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

Journal article

Bengani H. et al, (2017), Genetics in Medicine, 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

Mining Faces from Biomedical Literature using Deep Learning

Conference paper

Dawson M. et al, (2017), Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics - ACM-BCB '17

The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

Journal article

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

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