Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

Min-Han Tan, Jessica L. Mester, Charissa Peterson et al. · The American Journal of Human Genetics · 2010 · 415 citations · Full text

Medicine, Genetics, Molecular Genetics +7

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

J. Britt Ravnan · Journal of Medical Genetics · 2005 · 412 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Matthew Pastore, Thomas W. Prior, Gail E. Herman et al. · Genetics in Medicine · 2009 · 298 citations · Full text

Medicine, Genetics, Pediatrics +16

Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

Xiao-Ping Zhou, Kristin Waite, Robert Pilarski et al. · The American Journal of Human Genetics · 2003 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation screening of the <i>PTEN</i> gene in patients with autism spectrum disorders and macrocephaly

Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · 274 citations

Medicine, Genetics, Molecular Genetics +17