K. Friend
South Australia Pathology(AU)Women's and Children's Hospital(AU)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Ubiquitin and proteasome pathways, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation(2004)498 cited
- → Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis(1998)216 cited
- → Evidence of founder chromosomes in fragile X syndrome(1992)186 cited
- → Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia(2012)153 cited
- → Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication(2007)112 cited
- → Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus(2004)97 cited
- → CAG Repeat Expansion in Autosomal Dominant Familial Spastic Paraparesis: Novel Expansion in a Subset of Patients(1998)27 cited
- → Dynamic mutation loci: allele distributions in different populations(1996)22 cited
- → FRAXAC2 instability(1994)8 cited