Michelle Fox
Griffith University(AU)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Hearing Loss and Rehabilitation, Hearing Impairment and Communication, Connective tissue disorders research, Stroke Rehabilitation and Recovery
Most-Cited Works
- → Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders(2014)978 cited
- → Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction(2003)513 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss(2014)273 cited
- → DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies(2015)153 cited
- → Genetics of Disorders of Sex Development(2017)75 cited
- → Pyrin and ASC Co-Localize to Cellular Sites that Are Rich in Polymerizing Actin(2008)73 cited
- PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.(1990)
- → Pyrin Modulates the Intracellular Distribution of PSTPIP1(2009)65 cited
- → TUBB4A de novo mutations cause isolated hypomyelination(2014)63 cited