Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include Genetic factors in colorectal cancer, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, and Genomics and Rare Diseases.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Germline mutations in a G protein identify signaling cross-talk in T cells
Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Tissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancer
Characterization of Additive Gene–environment Interactions For Colorectal Cancer Risk
Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis
Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk
Probing the diabetes and colorectal cancer relationship using gene – environment interaction analyses
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes
Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomization study
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance
Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response
Genetic architectures of proximal and distal colorectal cancer are partly distinct
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
Response to Li and Hopper
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study