Soo-Mi Park

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

Medicine, Biomedical Informatics, Pathology +14

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17