Roberto T. Zori

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 605 citations

Genotype-phenotype Correlations, Mendelian Disorder, Malignant Disease +15

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder et al. · American Journal of Medical Genetics Part A · 2009 · 176 citations · Full text

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

David A. Stevenson, Theresa M. Anaya, Jill Clayton‐Smith et al. · American Journal of Medical Genetics Part A · 2003 · 122 citations

Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

Roberto T. Zori, James R. Lupski, Heju Zhang et al. · American Journal of Medical Genetics · 1993 · 89 citations