Dorothy K. Grange
Washington University in St. Louis(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Phenylketonuria Scientific Review Conference: State of the science and future research needs(2014)266 cited
- → De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction(2010)266 cited
- → Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK(2001)197 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited