Sharon W. Horsley

Subtle chromosomal rearrangements in children with unexplained mental retardation

Samantha J.L. Knight, Regina Regan, A Nicod et al. · The Lancet · 1999 · 453 citations

Down Syndrome, Developmental Anomaly, Subtle Chromosomal Rearrangements +5

A complete set of human telomeric probes and their clinical application

Yi Ning, Anna V. Roschke, Ann C. M. Smith et al. · Nature Genetics · 1996 · 302 citations

Telemetry, Biomedical Sensors, Engineering +12

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Sandro Rossetti, Vickie Kubly, Mark Consugar et al. · Kidney International · 2009 · 289 citations · Full text

Urology, Gene Dosage, Genetic Disorder +13

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

David Johnson, Sharon W. Horsley, Dominique M. Moloney et al. · The American Journal of Human Genetics · 1998 · 230 citations · Full text

Chromatin, Developmental Biology, Twist Mutations +10

Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia

David González de Castro, Jenny Yeung, Julia Procter et al. · Blood · 2008 · 186 citations · Full text