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Fat-Secreted Ceramides Regulate Vascular Redox State and Influence Outcomes in Patients with Cardiovascular Disease

Journal article

AKAWI N. et al, (2021), Journal of the American College of Cardiology

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal article

Aitken S. et al, (2019), Am J Hum Genet, 105, 933 - 946

Wnt5a contributes to human atherosclerosis via novel USP17 redox signalling

Conference paper

Akoumianakis I. et al, (2019), EUROPEAN HEART JOURNAL, 40, 1660 - 1660

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.

Journal article

Kaplanis J. et al, (2019), Genome Res, 29, 1047 - 1056

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Journal article

O'Donnell-Luria AH. et al, (2019), Am J Hum Genet, 104, 1210 - 1222

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Journal article

Gorman KM. et al, (2019), Am J Hum Genet, 104, 948 - 956

Quantifying the contribution of recessive coding variation to developmental disorders.

Journal article

Martin HC. et al, (2018), Science, 362, 1161 - 1164

Exploring the Crosstalk between Adipose Tissue and the Cardiovascular System.

Journal article

Akoumianakis I. et al, (2017), Korean Circ J, 47, 670 - 685

Prevalence and architecture of de novo mutations in developmental disorders.

Journal article

Deciphering Developmental Disorders Study None., (2017), Nature, 542, 433 - 438

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Journal article

Ben-Salem S. et al, (2016), Am J Med Genet A, 170A, 156 - 161

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Journal article

Moselhy H. et al, (2015), Meta Gene, 5, 135 - 139

Large-scale discovery of novel genetic causes of developmental disorders.

Journal article

Deciphering Developmental Disorders Study None., (2015), Nature, 519, 223 - 228

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Journal article

Reiff RE. et al, (2014), Hum Mol Genet, 23, 3456 - 3466

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