Elizabeth Hopkins

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp et al. · American Journal of Medical Genetics Part A · 2012 · 238 citations · Full text

Medicine, Neuroscience, Pediatrics +17

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Angela E. Lin, Mark E. Alexander, Steven D. Colan et al. · American Journal of Medical Genetics Part A · 2011 · 132 citations · Full text

Medicine, Cardiology, Genetics +17

Positive Linear Growth and Bone Responses to Growth Hormone Treatment in Children With Types III and IV Osteogenesis Imperfecta: High Predictive Value of the Carboxyterminal Propeptide of Type I Procollagen

Joan C. Marini, Elizabeth Hopkins, Francis H. Glorieux et al. · Journal of Bone and Mineral Research · 2003 · 117 citations · Full text

Medicine, Endocrinology, Pediatrics +17

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17