Jeffrey L. Neul

Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze et al. · Annals of Neurology · 2010 · 1.4K citations · Full text

Life Sciences, Genetics, Neurology +17

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Hsiao-Tuan Chao, Hongmei Chen, Rodney C. Samaco et al. · Nature · 2010 · 1.2K citations

Life Sciences, Neurobiology, Neuroscience +12

Specific mutations in <i>Methyl-CpG-Binding Protein 2</i> confer different severity in Rett syndrome

Jeffrey L. Neul, Ping Fang, James P. Barrish et al. · Neurology · 2008 · 501 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar et al. · Journal of Medical Genetics · 2014 · 315 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14