Norman Pratt

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

Lynette G. Sadleir, Emily Mountier, Deepak Gill et al. · Neurology · 2017 · 127 citations · Full text

Medicine, Neurology, Pediatrics +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation

Paul Batstone, Sheila A Simpson, David T. Bonthron et al. · American Journal of Medical Genetics Part A · 2003 · 85 citations

Life Sciences, Genetics, Molecular Genetics +16

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

Stephen A. Watt, Céline Pourreyron, Karin J. Purdie et al. · Oncogene · 2011 · 77 citations · Full text

Life Sciences, Molecular Biology, Oncology +17