Trent Burgess

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Alison D. Archibald, Melanie Smith, Trent Burgess et al. · Genetics in Medicine · 2017 · 117 citations · Full text

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio

David E. Godler, Flora Tassone, Danuta Z. Loesch et al. · Human Molecular Genetics · 2010 · 106 citations · Full text

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Damien L. Bruno, Stuart White, Devika Ganesamoorthy et al. · Journal of Medical Genetics · 2011 · 105 citations

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

MS Khaniani, HR Slater, QM Bui et al. · Clinical Genetics · 2009 · 101 citations · Full text

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

Alison Yeung, Damien L. Bruno, Ingrid E. Scheffer et al. · European Journal of Medical Genetics · 2009 · 100 citations

Developmental Biology, Mendelian Disorder, Cytogenetics +12