Tissue‐limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome

Detection of low‐level mosaicism by array CGH in routine diagnostic specimens

Blake C. Ballif, Emily A. Rorem, Kyle Sundin et al. · American Journal of Medical Genetics Part A · 2006 · 360 citations

Life Sciences, Genetics, Molecular Genetics +17

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 323 citations · Full text

Medicine, Molecular Genetics, Psychiatry +5

Myelin deficient mice: Expression of myelin basic protein and generation of mice with varying levels of myelin

Brian Popko · Cell · 1987 · 196 citations

Medicine, Neurobiology, Neuroscience +14

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Sau Wai Cheung, Chad A. Shaw, Daryl A. Scott et al. · American Journal of Medical Genetics Part A · 2007 · 189 citations

Life Sciences, Genetics, Molecular Genetics +17

Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4

Antje Brockschmidt, Unda Todt, Soojin Ryu et al. · Human Molecular Genetics · 2007 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16