Louise Christie
Hunter Genetics(AU)St Vincent's Health(AU)Australian Catholic University(AU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Cystic Fibrosis Research Advances, Prenatal Screening and Diagnostics
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation(2007)287 cited
- → Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region(2007)119 cited
- → Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations(2012)64 cited
- → A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A(2015)59 cited
- → A recurrent missense variant inSLC9A7causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation(2018)36 cited