Joanne Sutherland

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma

Suzanne Richter, Kirk Vandezande, Ning Chen et al. · The American Journal of Human Genetics · 2003 · 328 citations · Full text

Tumor Biology, Efficient Detection, Medicine +5

Isolation and characterization of a major tandem repeat family from the human X chromosome

Huntington F. Willard, Kirby D. Smith, Joanne Sutherland · Nucleic Acids Research · 1983 · 255 citations · Full text

Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling

Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith et al. · The American Journal of Human Genetics · 1998 · 206 citations · Full text

Germ-line Mosaicism, Somatic Variant, Ophthalmology +5

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 140 citations

Identifies Nmnat1 Mutations, Developmental Biology, Mendelian Disorder +9