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 · 124 citations · Full text

Life Sciences, Genetics, Obstetrics +17

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 · 106 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +15

<i>FOXP1</i> mutations cause intellectual disability and a recognizable phenotype

Anna Le Fevre, Sharelle Taylor, Neva H. Malek et al. · American Journal of Medical Genetics Part A · 2013 · 102 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +15