| Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ... Journal of Medical Genetics 47 (5), 299-311, 2010 | 173 | 2010 |
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 134 | 2013 |
| Scaffolding and completing genome assemblies in real-time with nanopore sequencing MD Cao, SH Nguyen, D Ganesamoorthy, AG Elliott, MA Cooper, ... Nature communications 8 (1), 14515, 2017 | 133 | 2017 |
| Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio DE Godler, F Tassone, DZ Loesch, AK Taylor, F Gehling, RJ Hagerman, ... Human molecular genetics 19 (8), 1618-1632, 2010 | 128 | 2010 |
| Streaming algorithms for identification pathogens and antibiotic resistance potential from real-time MinION™ sequencing MD Cao, D Ganesamoorthy, AG Elliott, H Zhang, MA Cooper, LJM Coin Gigascience 5 (1), s13742-016-0137-2, 2016 | 107 | 2016 |
| Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for … DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, ... Journal of medical genetics 46 (2), 123-131, 2009 | 88 | 2009 |
| Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping DL Bruno, SM White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, ... Journal of medical genetics 48 (12), 831-839, 2011 | 79 | 2011 |
| Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae ME Pitt, AG Elliott, MD Cao, D Ganesamoorthy, I Karaiskos, ... Microbial genomics 4 (3), e000158, 2018 | 72 | 2018 |
| Phenotypic variability of distal 22q11. 2 copy number abnormalities TY Tan, A Collins, PA James, G McGillivray, Z Stark, CT Gordon, ... American Journal of Medical Genetics Part A 155 (7), 1623-1633, 2011 | 71 | 2011 |
| Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high‐resolution SNP microarrays DL Bruno, Z Stark, DJ Amor, T Burgess, K Butler, S Corrie, D Francis, ... Human mutation 32 (12), 1500-1506, 2011 | 53 | 2011 |
| Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of … D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, ... BJOG: An International Journal of Obstetrics & Gynaecology 120 (5), 594-606, 2013 | 48 | 2013 |
| Complete Genome Sequence of Klebsiella quasipneumoniae subsp. similipneumoniae Strain ATCC 700603 AG Elliott, D Ganesamoorthy, L Coin, MA Cooper, MD Cao Genome announcements 4 (3), 10.1128/genomea. 00438-16, 2016 | 45 | 2016 |
| npInv: accurate detection and genotyping of inversions using long read sub-alignment H Shao, D Ganesamoorthy, T Duarte, MD Cao, CJ Hoggart, LJM Coin BMC bioinformatics 19, 1-13, 2018 | 44 | 2018 |
| Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15 D Ganesamoorthy, DL Bruno, J Schoumans, E Storey, MB Delatycki, ... Clinical chemistry 55 (7), 1415-1418, 2009 | 44 | 2009 |
| Use of copy number deletion polymorphisms to assess DNA chimerism DL Bruno, D Ganesamoorthy, NP Thorne, L Ling, M Bahlo, S Forrest, ... Clinical chemistry 60 (8), 1105-1114, 2014 | 38 | 2014 |
| Application of a new molecular technique for the genetic evaluation of products of conception FR Grati, DM Gomes, D Ganesamoorthy, L Marcato, S De Toffol, ... Prenatal diagnosis 33 (1), 32-41, 2013 | 34 | 2013 |
| Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery D Chandrananda, NP Thorne, D Ganesamoorthy, DL Bruno, Y Benjamini, ... PLoS One 9 (1), e86993, 2014 | 32 | 2014 |
| A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13. 33 RN Traylor, DL Bruno, T Burgess, R Wildin, A Spencer, D Ganesamoorthy, ... PLoS One 5 (8), e12462, 2010 | 31 | 2010 |
| Realtime analysis and visualization of MinION sequencing data with npReader MD Cao, D Ganesamoorthy, MA Cooper, LJM Coin Bioinformatics 32 (5), 764-766, 2016 | 26 | 2016 |
| High‐resolution microarray in the assessment of fetal anomalies detected by ultrasound P Charan, N Woodrow, SP Walker, D Ganesamoorthy, G McGillivray, ... Australian and New Zealand Journal of Obstetrics and Gynaecology 54 (1), 46-52, 2014 | 22 | 2014 |
