Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Publications

The genetic architecture of changes in adiposity during adulthood

Venkatesh SS. 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), Am J Hum Genet

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

den Hoed J. et al, (2021), Am J Hum Genet, 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, e1008044 - e1008044

A call for global action for rare diseases in Africa.

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

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

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B. et al, (2019), Am J Hum Genet, 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 SH. et al, (2019), Gates Open Research, 2, 49 - 49

Big data phenotyping in rare diseases: some ethical issues

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

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 SH. et al, (2018), Gates Open Research, 2, 49 - 49

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), 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

Reijnders MRF. et al, (2018), Journal of Medical Genetics, 55, 104 - 113

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

Bengani H. et al, (2017), Genetics in Medicine, 19, 900 - 908

Load More

Include forthcoming?