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Andre E Minoche
Andre E Minoche
Verified email at garvan.org.au
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Year
Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems
AE Minoche, JC Dohm, H Himmelbauer
Genome biology 12 (11), 1-15, 2011
6982011
The genome of the recently domesticated crop plant sugar beet (Beta vulgaris)
JC Dohm, AE Minoche, D Holtgräwe, S Capella-Gutiérrez, F Zakrzewski, ...
Nature 505 (7484), 546-549, 2014
5522014
Identification of a mutation in the extracellular domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer
C Montagut, A Dalmases, B Bellosillo, M Crespo, S Pairet, M Iglesias, ...
Nature medicine 18 (2), 221-223, 2012
5122012
Architecture and evolution of a minute plant genome
E Ibarra-Laclette, E Lyons, G Hernández-Guzmán, CA Pérez-Torres, ...
Nature 498 (7452), 94-98, 2013
3492013
Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes
A Vlasova, S Capella-Gutiérrez, M Rendón-Anaya, M Hernández-Oñate, ...
Genome biology 17 (1), 1-18, 2016
2032016
Molecular signatures of plastic phenotypes in two eusocial insect species with simple societies
S Patalano, A Vlasova, C Wyatt, P Ewels, F Camara, PG Ferreira, ...
Proceedings of the National Academy of Sciences 112 (45), 13970-13975, 2015
1942015
Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy
RD Bagnall, J Ingles, ME Dinger, MJ Cowley, SB Ross, AE Minoche, S Lal, ...
Journal of the American College of Cardiology 72 (4), 419-429, 2018
1462018
Exploiting single-molecule transcript sequencing for eukaryotic gene prediction
AE Minoche, JC Dohm, J Schneider, D Holtgräwe, P Viehöver, M Montfort, ...
Genome biology 16 (1), 1-13, 2015
1322015
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
AC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ...
European Journal of Human Genetics 24 (11), 1584-1590, 2016
752016
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
AE Minoche, C Horvat, R Johnson, V Gayevskiy, SU Morton, AP Drew, ...
Genetics in Medicine 21 (3), 650-662, 2019
552019
Crop wild relative populations of Beta vulgaris allow direct mapping of agronomically important genes
GG Capistrano-Gossmann, D Ries, D Holtgräwe, A Minoche, T Kraft, ...
Nature communications 8 (1), 15708, 2017
542017
p53 Gene repair with zinc finger nucleases optimised by yeast 1-hybrid and validated by Solexa sequencing
F Herrmann, M Garriga-Canut, R Baumstark, E Fajardo-Sanchez, ...
PloS one 6 (6), e20913, 2011
482011
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
LG Riley, MJ Cowley, V Gayevskiy, AE Minoche, C Puttick, DR Thorburn, ...
Genetics in Medicine 22 (7), 1254-1261, 2020
442020
Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies
EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ...
Neurology 96 (13), e1770-e1782, 2021
422021
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
KR Kumar, RL Davis, MC Tchan, GM Wali, N Mahant, K Ng, K Kotschet, ...
Parkinsonism & Related Disorders 69, 111-118, 2019
382019
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
AE Minoche, B Lundie, GB Peters, T Ohnesorg, M Pinese, DM Thomas, ...
Genome Medicine 13 (1), 1-19, 2021
362021
Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical …
MA Field, BD Rosen, O Dudchenko, EKF Chan, AE Minoche, RJ Edwards, ...
GigaScience 9 (4), giaa027, 2020
352020
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus
AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ...
Med 2 (1), 49-73. e10, 2021
342021
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
KR Kumar, GM Wali, M Kamate, G Wali, AE Minoche, C Puttick, M Pinese, ...
Neurogenetics 17, 265-270, 2016
342016
Increased diagnostic yield of spastic paraplegia with or without cerebellar ataxia through whole-genome sequencing
A Kim, KR Kumar, RL Davis, AC Mallawaarachchi, V Gayevskiy, ...
The Cerebellum 18, 781-790, 2019
322019
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