The genetic architecture of changes in adiposity during adulthood
Preprint
Venkatesh S. et al, (2023)
Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue.
Journal article
Honecker J. et al, (2022), EBioMedicine, 79
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Journal article
Palmer EE. et al, (2021), Clinical Genetics
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
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Journal article
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
Preprint
Honecker J. et al, (2021)
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
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
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol
Journal article
Kennedy S. et al, (2019)
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
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol
Journal article
Kennedy S. et al, (2018)
Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings
Conference paper
Alvi 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