Desiree Cloosterman

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Simon A. Hardwick, Kirsten Reuter, Sarah Williamson et al. · European Journal of Human Genetics · 2007 · 54 citations

Life Sciences, Genetics, Molecular Genetics +12

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

Cheryl Shoubridge, Desiree Cloosterman, Doug A. Brooks et al. · Genomics · 2007 · 48 citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

Cheryl Shoubridge, May H. Tan, Tod Fullston et al. · PathoGenetics · 2010 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cyclin-Dependent Kinase-Like 5 (<i>CDKL5</i>) Mutation Screening in Rett Syndrome and Related Disorders

Rose White, Gladys Ho, Swetlana Schmidt et al. · Twin Research and Human Genetics · 2010 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

Roksana Armani, Hayley Archer, Angus Clarke et al. · American Journal of Medical Genetics Part A · 2012 · 25 citations

Life Sciences, Genetics, Molecular Genetics +9