Jennie Slee
Services Australia(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Neurogenetic and Muscular Disorders Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Identification of SOX3 as an XX male sex reversal gene in mice and humans(2010)277 cited
- → What constitutes cerebral palsy?(1998)233 cited
- → What constitutes cerebral palsy in the twenty‐first century?(2013)231 cited
- → Deletion of chromosome 13 in Moebius syndrome.(1991)133 cited
- → Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome(2001)131 cited
- → Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth(2015)115 cited
- → Haploinsufficiency of SF3B2 causes craniofacial microsomia(2021)86 cited
- → The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service(2016)73 cited
- → Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy(2018)47 cited
- → Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5(2007)42 cited