Area of research
Molecular Biology · Hematology
Research interest
Research interests include Biology, DNA methylation, Genetics, Epigenetics, Medicine, and Epigenome.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Acute Lymphoblastic Leukemia with Myeloid Mutations Is a High-Risk Disease Associated with Clonal Hematopoiesis
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders
The SEQC2 epigenomics quality control (EpiQC) study
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Transposable element expression in tumors is associated with immune infiltration and increased antigenicity
Lactate-mediated epigenetic reprogramming regulates formation of human pancreatic cancer-associated fibroblasts
Retargeting of macroH2A following mitosis to cytogenetic-scale heterochromatic domains
Epigenetically Aberrant Stroma in MDS Propagates Disease via Wnt/β-Catenin Activation
Epigenetics, cellular memory and gene regulation
Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder
MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER
Recommendations for the design and analysis of epigenome-wide association studies
Genetic Recombination Is Targeted towards Gene Promoter Regions in Dogs
Hypomethylation of Noncoding DNA Regions and Overexpression of the Long Noncoding RNA, AFAP1-AS1, in Barrett's Esophagus and Esophageal Adenocarcinoma
Genome-wide hydroxymethylation tested using the HELP-GT assay shows redistribution in cancer
High Resolution Methylome Analysis Reveals Widespread Functional Hypomethylation during Adult Human Erythropoiesis
Phase II trial of the histone deacetylase inhibitor romidepsin in patients with recurrent/metastatic head and neck cancer