Kathryn Friend
South Australia Pathology(AU)Thermo Fisher Scientific (United States)(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Neurodegenerative Diseases, RNA modifications and cancer
Most-Cited Works
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia(2011)596 cited
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders