RJ McKinlay Gardner

High frequency hearing loss correlated with mutations in the GJB2 gene

Stephen Wilcox, Kerryn Saunders, Amelia H. Osborn et al. · Human Genetics · 2000 · 209 citations

Life Sciences, Genetics, Molecular Genetics +12

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Birgitt Schüle, Mohammed Al Balwi, Emma L. Northrop et al. · BMC Medical Genetics · 2005 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, M.B. Alcausin et al. · Orphanet Journal of Rare Diseases · 2011 · 63 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +17

Frequency of the ATM IVS10-6T→G variant in Australian multiple-case breast cancer families

Geoffrey J. Lindeman, Melody Hiew, Jane E. Visvader et al. · Breast Cancer Research · 2004 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17