Soo-Mi Park
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics, Epigenetics and DNA Methylation
Most-Cited Works
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus(2013)188 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
- → STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability(2017)60 cited
- → De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome(2019)46 cited
- → Production and Application of Polyclonal Antibody to Human Thyroid Transcription Factor 2 Reveals Thyroid Transcription Factor 2 Protein Expression in Adult Thyroid and Hair Follicles and Prepubertal Testis(2003)26 cited
- → Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles(2024)11 cited
- → Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections(2023)8 cited
- → Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome(2019)2 cited