Caroline Astbury

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Sustained alpha‐sarcoglycan gene expression after gene transfer in limb‐girdle muscular dystrophy, type 2D

Jerry R. Mendell, Louise R. Rodino‐Klapac, Xiomara Q. Rosales et al. · Annals of Neurology · 2010 · 240 citations · Full text

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 · 185 citations · Full text

Exonic Deletions, Developmental Biology, Molecular Neuroscience +7

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2010 · 166 citations · Full text

Heart Defects, Developmental Biology, Genetic Disorder +10

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Daniela del Gaudio, Marwan Shinawi, Caroline Astbury et al. · Genetics in Medicine · 2020 · 151 citations · Full text

Uniparental Disomy, Genetic Testing, Genetic Disorder +9