Takip et
Sebastian Lunke
Sebastian Lunke
Victorian Clinical Genetics Services
vcgs.org.au üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer
MKH Hong, G Macintyre, DC Wedge, P Van Loo, K Patel, S Lunke, ...
Nature communications 6 (1), 6605, 2015
3952015
Genome-wide analysis distinguishes hyperglycemia regulated epigenetic signatures of primary vascular cells
L Pirola, A Balcerczyk, RW Tothill, I Haviv, A Kaspi, S Lunke, M Ziemann, ...
Genome research 21 (10), 1601-1615, 2011
2412011
Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in ex vivo culture
F Grillet, E Bayet, O Villeronce, L Zappia, EL Lagerqvist, S Lunke, ...
Gut 66 (10), 1802-1810, 2017
1922017
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ...
Jama 323 (24), 2503-2511, 2020
1502020
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone …
J Hauke, M Riessland, S Lunke, IY Eyüpoglu, I Blümcke, A El-Osta, ...
Human molecular genetics 18 (2), 304-317, 2009
1502009
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Z Stark, D Schofield, M Martyn, L Rynehart, R Shrestha, K Alam, S Lunke, ...
Genetics in Medicine 21 (1), 173-180, 2019
1402019
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ...
Genetics in Medicine 20 (12), 1554-1563, 2018
1352018
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ...
Brain 140 (6), 1595-1610, 2017
1292017
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
OJ Dillon, S Lunke, Z Stark, A Yeung, N Thorne, ...
European Journal of Human Genetics 26 (5), 644-651, 2018
1252018
Contraction-induced interleukin-6 gene transcription in skeletal muscle is regulated by c-Jun terminal kinase/activator protein-1
M Whitham, MHS Chan, M Pal, VB Matthews, O Prelovsek, S Lunke, ...
Journal of Biological Chemistry 287 (14), 10771-10779, 2012
1212012
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
P Perucca, IE Scheffer, AS Harvey, PA James, S Lunke, N Thorne, C Gaff, ...
Epilepsy research 131, 1-8, 2017
1052017
Cpipe: a shared variant detection pipeline designed for diagnostic settings
SP Sadedin, H Dashnow, PA James, M Bahlo, DC Bauer, A Lonie, ...
Genome medicine 7, 1-10, 2015
962015
Vascular histone deacetylation by pharmacological HDAC inhibition
H Rafehi, A Balcerczyk, S Lunke, A Kaspi, M Ziemann, KN Harikrishnan, ...
Genome research 24 (8), 1271-1284, 2014
892014
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
K Jayasinghe, Z Stark, PG Kerr, C Gaff, M Martyn, J Whitlam, B Creighton, ...
Genetics in medicine 23 (1), 183-191, 2021
802021
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ...
Molecular genetics & genomic medicine 8 (11), e1508, 2020
592020
Response to cetuximab with or without irinotecan in patients with refractory metastatic colorectal cancer harboring the KRAS G13D mutation: Australasian Gastro-Intestinal …
E Segelov, S Thavaneswaran, PM Waring, J Desai, KP Robledo, ...
Journal of Clinical Oncology 34 (19), 2258-2264, 2016
552016
Role of histone acetylation in the stimulatory effect of valproic acid on vascular endothelial tissue-type plasminogen activator expression
P Larsson, E Ulfhammer, M Magnusson, N Bergh, S Lunke, A El-Osta, ...
PloS one 7 (2), e31573, 2012
552012
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
L Downie, J Halliday, R Burt, S Lunke, E Lynch, M Martyn, Z Poulakis, ...
European Journal of Human Genetics 28 (5), 587-596, 2020
502020
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...
Genetics in medicine 24 (1), 130-145, 2022
492022
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Z Stark, RE Foulger, E Williams, BA Thompson, C Patel, S Lunke, C Snow, ...
The American Journal of Human Genetics 108 (9), 1551-1557, 2021
472021
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