Kathreen Johnston

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation

The American Journal of Human Genetics · 2005 · 107 citations

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

European Journal of Human Genetics · 2009 · 90 citations