J. Nicholl
South Australia Pathology(AU)Women's and Children's Hospital(AU)The University of Adelaide(AU)
Publications by Year
Research Areas
Glaucoma and retinal disorders, Retinal Imaging and Analysis, Retinal Diseases and Treatments, Genomics and Rare Diseases, interferon and immune responses
Most-Cited Works
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited
- → Quantitative Estimation of Retinal Nerve Fiber Layer Height in Glaucoma and the Relationship with Optic Nerve Head Topography and Visual Field(1997)38 cited
- → Assignment of the Gene Encoding Human Galanin Receptor (GALNR) to 18q23 by in Situ Hybridization(1995)24 cited
- → Comparison between laser scanning tomography and computerised image analysis of the optic disc(1999)17 cited
- → Detection of changes of the optic disc in glaucomatous eyes: Clinical examination and image analysis with the Topcon Imagenet system(2000)15 cited
- → Human gene mapping report(1995)12 cited
- → A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology(2009)10 cited
- → The third human isoform of 6-phosphofructo-2-kinasefructose-2,6-bisphosphatase (PFKFB3) Map position 10p14–p15(1997)6 cited
- → Inhibitor of T-lymphocyte apoptosis (ITA) map position IIq22(1996)2 cited
- Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioural problems(2015)