Nina Powell‐Hamilton

A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair

Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett et al. · American Journal of Medical Genetics Part A · 2016 · 151 citations

Life Sciences, Genetics, Molecular Genetics +17

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo et al. · Genetics in Medicine · 2015 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Bret L. Bostwick, Scott McLean, Jennifer E. Posey et al. · Genome Medicine · 2017 · 76 citations · Full text

Medicine, Genetics, Molecular Genetics +17