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Publications

The genetic architecture of changes in adiposity during adulthood

Venkatesh S. et al, (2023)

Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue.

Honecker J. et al, (2022), EBioMedicine, 79

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

Palmer EE. et al, (2021), Clinical Genetics

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

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

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

den Hoed J. et al, (2021), American journal of human genetics, 108, 346 - 356

Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue

Honecker J. et al, (2021)

The case for open science: rare diseases.

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.

Glastonbury CA. et al, (2020), PLoS computational biology, 16

A call for global action for rare diseases in Africa.

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.

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

Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol

Kennedy S. et al, (2019)

Big data phenotyping in rare diseases: some ethical issues.

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.

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

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

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

Dawson M. et al, (2018)

Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol

Kennedy S. et al, (2018)

Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings

Alvi M. et al, (2018)

Towards Deep Cellular Phenotyping in Placental Histology

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.

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.

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

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