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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

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