Jackie Boyle
The University of Sydney(AU)New South Wales Department of Health(AU)UNSW Sydney(AU)Hunter Genetics(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor(2007)224 cited
- → Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus(2007)174 cited
- → Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability(2010)146 cited
- → Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability(2010)131 cited