Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, RNA Research and Splicing, and RNA modifications and cancer.
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Dysregulation of AGO2-miRNA dynamics underlies the <i>AGO2</i>-associated Lessel–Kreienkamp syndrome
Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma
Hereditäre Krebserkrankungen in der Gynäkologie
miRISC inhibition causes mitotic defects and synergizes with genotoxic agents in cancers
Multiple intracerebral hematomas during <scp>SEEG</scp> recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen <scp>IV</scp> gene mutation and oral nicotine consumption as risk factors
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
A causal effects of gut microbiota in the development of migraine
Observational and genetic associations between cardiorespiratory fitness and cancer: a UK Biobank and international consortia study
Intake Patterns of Specific Alcoholic Beverages by Prostate Cancer Status
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Identification of 22 susceptibility loci associated with testicular germ cell tumors
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Germline AGO2 mutations impair RNA interference and human neurological development
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache
Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
Author Correction: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions
Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility