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Devika Ganesamoorthy
Devika Ganesamoorthy
Research Fellow
Bestätigte E-Mail-Adresse bei uq.edu.au
Titel
Zitiert von
Zitiert von
Jahr
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
1682010
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
1302017
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
1282013
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
1262010
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
972016
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
832009
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
772011
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
692011
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
662018
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
522011
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
482013
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
432018
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
432016
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
422009
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
382014
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
312013
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
302014
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
282010
Realtime analysis and visualization of MinION sequencing data with npReader
MD Cao, D Ganesamoorthy, MA Cooper, LJM Coin
Bioinformatics 32 (5), 764-766, 2016
272016
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
222014
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