Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, and Congenital heart defects research.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Reanalysis of Clinical Exome Sequencing Data
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer
The protease‐activated receptor 4 Ala120Thr variant alters platelet responsiveness to low‐dose thrombin and protease‐activated receptor 4 desensitization, and is blocked by non‐competitive P2Y12 inhibition
Use of Exome Sequencing for Infants in Intensive Care Units
EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells
HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer
A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection
Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women
The spliceosome is a therapeutic vulnerability in MYC-driven cancer
Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- and tissue-specific microRNAs
MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
Somatic mosaicism: implications for disease and transmission genetics
Molecular diagnostic experience of whole-exome sequencing in adult patients
Mus81 and converging forks limit the mutagenicity of replication fork breakage
Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections – A Prospective Cohort Study
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination