Roberto T. Zori

Angelman syndrome: Consensus for diagnostic criteria

Charles A. Williams, Harry Angelman, Jill Clayton‐Smith et al. · American Journal of Medical Genetics · 1995 · 365 citations

Medicine, Neurology, Psychiatry +6

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Jeff M. Milunsky, Tom A. Maher, Geping Zhao et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

Life Sciences, Genetics, Ophthalmology +12

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

Daniel J. Driscoll, Michael F. Waters, Charles A. Williams et al. · Genomics · 1992 · 211 citations

Medicine, Genetics, Molecular Genetics +14

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Janet A. Thomas, Harvey L. Levy, Stephen Amato et al. · Molecular Genetics and Metabolism · 2018 · 183 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +10

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting

Charles A. Williams, Roberto T. Zori, John W. Stone et al. · American Journal of Medical Genetics · 1990 · 119 citations

Life Sciences, Genetics, Molecular Genetics +15