Dorothy K. Grange

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 277 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko et al. · American Journal of Medical Genetics Part A · 2010 · 269 citations

Life Sciences, Cell Biology, Molecular Genetics +13

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

Medicine, Biochemistry, Molecular Medicine +8

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12