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13 items matching your search terms.
Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C
Field, Matt A; Rosen, Benjamin D; Dudchenko, Olga; Chan, Eva K F; Minoche, Andre E; Edwards, Richard J; Barton, Kirston; Lyons, Ruth J; Tuipulotu, Daniel Enosi; Hayes, Vanessa M; D.A Omer, Arina; Colaric, Zane; Keilwagen, Jens; Skvortsova, Ksenia; Bogdanovic, Ozren; Smith, Martin A; Aiden, Erez Lieberman; Smith, Timothy P L; Zammit, Robert A; Ballard, J William O
GigaScience 9 (4) 2020 10.1093/gigascience/giaa027
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
Kumar, Kishore R.; Davis, Ryan L.; Tchan, Michel C.; Wali, G. M.; Mahant, Neil; Ng, Karl; Kotschet, Katya; Siow, Sue-Faye; Gu, Jason; Walls, Zachary; Kang, Ce; Wali, Gautam; Levy, Stan; Phua, Chung Sen; Yiannikas, Con; Darveniza, Paul; Chang, Florence C. F.; Morales-BriceA+-o, Hugo; Rowe, Dominic B.; Drew, Alex; Gayevskiy, Velimir; Cowley, Mark J.; Minoche, Andre E.; Tisch, Stephen; Hayes, Michael; Kummerfeld, Sarah; Fung, Victor S. C.; Sue, Carolyn M.
PARKINSONISM & RELATED DISORDERS 69 :111-118, 2019 10.1016/j.parkreldis.2019.11.004
Genomes of the wild beets Beta patula and Beta vulgaris ssp. maritima
Rodriguez Del Rio, A.; Minoche, A. E.; Zwickl, N. F.; Friedrich, A.; Liedtke, S.; Schmidt, T.; Himmelbauer, H.; Dohm, J. C.
PLANT JOURNAL 99 (6) :1242-1253, 2019 10.1111/tpj.14413
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
Kim, Aryun; Kumar, Kishore R.; Davis, Ryan L.; Mallawaarachchi, Amali C.; Gayevskiy, Velimir; Minoche, Andre E.; Walls, Zachary; Kim, Han-Joon; Jang, Mihee; Cowley, Mark J.; Choi, Ji-Hyun; Shin, Chaewon; Sue, Carolyn M.; Jeon, Beomseok
CEREBELLUM 18 (4) :781-790, 2019 10.1007/s12311-019-01038-0
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Minoche, A. E.; Horvat, C.; Johnson, R.; Gayevskiy, V.; Morton, S. U.; Drew, A. P.; Woo, K.; Statham, A. L.; Lundie, B.; Bagnall, R. D.; Ingles, J.; Semsarian, C.; Seidman, J. G.; Seidman, C. E.; Dinger, M. E.; Cowley, M. J.; Fatkin, D.
GENETICS IN MEDICINE 21 (3) :650-662, 2019 10.1038/s41436-018-0084-7
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Palmer, E. E.; Hong, S.; Al Zahrani, F.; Hashem, M. O.; Aleisa, F. A.; Ahmed, H. M. J.; Kandula, T.; Macintosh, R.; Minoche, A. E.; Puttick, C.; Gayevskiy, V.; Drew, A. P.; Cowley, M. J.; Dinger, M.; Rosenfeld, J. A.; Xiao, R.; Cho, M. T.; Yakubu, S. F.; Henderson, L. B.; Guillen Sacoto, M. J.; Begtrup, A.; Hamad, M.; Shinawi, M.; Andrews, M. V.; Jones, M. C.; Lindstrom, K.; Bristol, R. E.; Kayani, S.; Snyder, M.; Villanueva, M. M.; Schteinschnaider, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Roscioli, T.; Kirk, E. P.; Bye, A.; Merzaban, J.; Jaremko, L.; Jaremko, M.; Sachdev, R. K.; Alkuraya, F. S.; Arold, S. T.
American Journal Of Human Genetics 104 (3) :542-552, 2019 10.1016/j.ajhg.2019.01.013
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
Bagnall, R. D.; Ingles, J.; Dinger, M. E.; Cowley, M. J.; Ross, S. B.; Minoche, A. E.; Lal, S.; Turner, C.; Colley, A.; Rajagopalan, S.; Berman, Y.; Ronan, A.; Fatkin, D.; Semsarian, C.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY 72 (4) :419-429, 2018 10.1016/j.jacc.2018.04.078
Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
Kumar, K. R.; Wali, G.; Davis, R. L.; Mallawaarachchi, A. C.; Palmer, E. E.; Gayevskiy, V.; Minoche, A. E.; Veivers, D.; Dinger, M. E.; Mackay-Sim, A.; Cowley, M. J.; Sue, C. M.
MOLECULAR GENETICS AND METABOLISM 16 :46-51, 2018 10.1016/j.ymgmr.2018.07.003
Crop wild relative populations of Beta vulgaris allow direct mapping of agronomically important genes
Capistrano-Gossmann, G. G.; Ries, D.; Holtgrawe, D.; Minoche, A.; Kraft, T.; Frerichmann, S. L. M.; Rosleff Soerensen, T.; Dohm, J. C.; Gonzalez, I.; Schilhabel, M.; Varrelmann, M.; Tschoep, H.; Uphoff, H.; Schutze, K.; Borchardt, D.; Toerjek, O.; Mechelke, W.; Lein, J. C.; Schechert, A. W.; Frese, L.; Himmelbauer, H.; Weisshaar, B.; Kopisch-Obuch, F. J.
Nature Communications 8 :15708, 2017 10.1038/ncomms15708
OpenAccess publication Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
Kumar, K. R.; Wali, G. M.; Kamate, M.; Wali, G.; Minoche, A. E.; Puttick, C.; Pinese, M.; Gayevskiy, V.; Dinger, M. E.; Roscioli, T.; Sue, C. M.; Cowley, M. J.;
NEUROGENETICS 17 (4) :265-270, 2016
OpenAccess publication Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
Mallawaarachchi, A. C.; Hort, Y.; Cowley, M. J.; McCabe, M. J.; Minoche, A.; Dinger, M. E.; Shine, J.; Furlong, T. J.;
EUROPEAN JOURNAL OF HUMAN GENETICS 24 (11) :1584-1590, 2016
OpenAccess publication Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes
Vlasova, A.; Capella-Gutierrez, S.; Rendon-Anaya, M.; Hernandez-Onate, M.; Minoche, A. E.; Erb, I.; Camara, F.; Prieto-Barja, P.; Corvelo, A.; Sanseverino, W.; Westergaard, G.; Dohm, J. C.; Pappas, G. J., Jr.; Saburido-Alvarez, S.; Kedra, D.; Gonzalez, I.; Cozzuto, L.; Gomez-Garrido, J.; Aguilar-Moron, M. A.; Andreu, N.; Aguilar, O. M.; Garcia-Mas, J.; Zehnsdorf,
GENOME BIOL 17 (1) :32, 2016
OpenAccess publication Diversification, evolution and methylation of short interspersed nuclear element families in sugar beet and related Amaranthaceae species
Schwichtenberg, K.; Wenke, T.; Zakrzewski, F.; Seibt, K. M.; Minoche, A.; Dohm, J. C.; Weisshaar, B.; Himmelbauer, H.; Schmidt, T.;
PLANT JOURNAL 85 (2) :229-44, 2016