Elizabeth A. Sellars

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

Medicine, Pathology, Pediatrics +16

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 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

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16