Amanda Collins
Griffith University(AU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cancer Research and Treatments, Chromosomal and Genetic Variations
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila(2009)345 cited
- → The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services(2014)316 cited
- → 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome(2005)296 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease(2005)270 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Multiple rare SAPAP3 missense variants in trichotillomania and OCD(2008)199 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice(2004)159 cited