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Items: 40

1.

Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.

Shanthikumar S, Kevat A, Stapleton R, Lunke S, Stark Z, Vandeleur M.

Pediatr Pulmonol. 2020 Apr;55(4):855-857. doi: 10.1002/ppul.24686. Epub 2020 Feb 14. No abstract available.

PMID:
32057194
2.

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.

Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ.

Genet Med. 2020 Jan 24. doi: 10.1038/s41436-019-0745-1. [Epub ahead of print]

PMID:
31974413
3.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, Ellaway C, Christodoulou J.

Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.

4.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance, Amor DJ.

Eur J Hum Genet. 2019 Dec 12. doi: 10.1038/s41431-019-0553-8. [Epub ahead of print]

PMID:
31827275
5.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ.

Hum Mutat. 2019 Oct 23. doi: 10.1002/humu.23936. [Epub ahead of print]

PMID:
31646703
6.

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z.

Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29.

PMID:
31358953
7.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM.

Eur J Hum Genet. 2019 Dec;27(12):1791-1799. doi: 10.1038/s41431-019-0471-9. Epub 2019 Jul 18.

PMID:
31320747
8.

IREB2-associated neurodegeneration.

Cooper MS, Stark Z, Lunke S, Zhao T, Amor DJ.

Brain. 2019 Aug 1;142(8):e40. doi: 10.1093/brain/awz183. No abstract available.

PMID:
31243445
9.

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark Z, Nisselle A, McClaren B, Lynch F, Best S, Long JC, Martyn M, Patel C, Schlapbach LJ, Barnett C, Theda C, Pinner J, Dinger ME, Lunke S, Gaff CL.

Eur J Hum Genet. 2019 Oct;27(10):1493-1501. doi: 10.1038/s41431-019-0429-y. Epub 2019 May 31.

PMID:
31148592
10.

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.

Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance, Gaff CL.

J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18.

PMID:
30776170
11.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.

Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25.

12.

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.

Watson LR, Slade CA, Ojaimi S, Barnes S, Fedele P, Smith P, Marum J, Lunke S, Stark Z, Hunter MF, Bryant VL, Low MSY.

Allergy Asthma Clin Immunol. 2018 Oct 22;14:65. doi: 10.1186/s13223-018-0272-7. eCollection 2018.

13.

Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Feb;21(2):516. doi: 10.1038/s41436-018-0078-5.

PMID:
30158691
14.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM.

Semin Pediatr Neurol. 2018 Jul;26:2-9. doi: 10.1016/j.spen.2017.03.001. Epub 2017 Apr 5.

PMID:
29961509
15.

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15. Erratum in: Genet Med. 2018 Aug 29;:.

PMID:
29765138
16.

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Downie L, Halliday JL, Burt RA, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter M, Saunders K, Rose E, Rehm HL, Amor DJ.

BMJ Paediatr Open. 2017 Sep 14;1(1):e000119. doi: 10.1136/bmjpo-2017-000119. eCollection 2017.

17.

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance.

Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15.

PMID:
29543227
18.

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N; Melbourne Genomics Health Alliance, Gaff C, White SM, Tan TY.

Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. Epub 2018 Feb 16.

19.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z.

Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Review.

PMID:
29023665
20.

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance, Oshlack A, White SM, James PA.

Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23.

21.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

22.

Intratumorous heterogeneity for RAS mutations in a treatment-naïve colorectal tumour.

Lunke S, Lee B, Kranz S, Gibbs P, Waring P, Christie M.

J Clin Pathol. 2017 Aug;70(8):720-723. doi: 10.1136/jclinpath-2017-204327. Epub 2017 Mar 17.

PMID:
28314739
23.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.

PMID:
28199897
24.

Examining the impact of regular aspirin use and PIK3CA mutations on survival in stage 2 colon cancer.

Murphy C, Turner N, Wong HL, Sinnathamby M, Tie J, Lee B, Desai J, Skinner I, Christie M, Hutchinson R, Lunke S, Waring P, Gibbs P, Tran B.

Intern Med J. 2017 Jan;47(1):88-98. doi: 10.1111/imj.13312.

PMID:
27800646
25.

The feasibility of molecular testing on cell blocks created from brush tip washings in the assessment of peripheral lung lesions.

Bonney A, Christie M, Beaty A, Lunke S, Taylor G, Irving L, Steinfort D.

J Thorac Dis. 2016 Sep;8(9):2551-2555.

26.

Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in ex vivo culture.

Grillet F, Bayet E, Villeronce O, Zappia L, Lagerqvist EL, Lunke S, Charafe-Jauffret E, Pham K, Molck C, Rolland N, Bourgaux JF, Prudhomme M, Philippe C, Bravo S, Boyer JC, Canterel-Thouennon L, Taylor GR, Hsu A, Pascussi JM, Hollande F, Pannequin J.

Gut. 2017 Oct;66(10):1802-1810. doi: 10.1136/gutjnl-2016-311447. Epub 2016 Jul 25.

27.

Response to Cetuximab With or Without Irinotecan in Patients With Refractory Metastatic Colorectal Cancer Harboring the KRAS G13D Mutation: Australasian Gastro-Intestinal Trials Group ICECREAM Study.

Segelov E, Thavaneswaran S, Waring PM, Desai J, Robledo KP, Gebski VJ, Elez E, Nott LM, Karapetis CS, Lunke S, Chantrill LA, Pavlakis N, Khasraw M, Underhill C, Ciardiello F, Jefford M, Wasan H, Haydon A, Price TJ, van Hazel G, Wilson K, Simes J, Shapiro JD.

J Clin Oncol. 2016 Jul 1;34(19):2258-64. doi: 10.1200/JCO.2015.65.6843. Epub 2016 Apr 25.

PMID:
27114605
28.

High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq.

Kondrashova O, Love CJ, Lunke S, Hsu AL; Australian Ovarian Cancer Study (AOCS) Group, Waring PM, Taylor GR.

PLoS One. 2015 Nov 16;10(11):e0143006. doi: 10.1371/journal.pone.0143006. eCollection 2015.

29.

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Sadedin SP, Dashnow H, James PA, Bahlo M, Bauer DC, Lonie A, Lunke S, Macciocca I, Ross JP, Siemering KR, Stark Z, White SM; Melbourne Genomics Health Alliance, Taylor G, Gaff C, Oshlack A, Thorne NP.

Genome Med. 2015 Jul 10;7(1):68. doi: 10.1186/s13073-015-0191-x. eCollection 2015.

30.

Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer.

Hong MK, Macintyre G, Wedge DC, Van Loo P, Patel K, Lunke S, Alexandrov LB, Sloggett C, Cmero M, Marass F, Tsui D, Mangiola S, Lonie A, Naeem H, Sapre N, Phal PM, Kurganovs N, Chin X, Kerger M, Warren AY, Neal D, Gnanapragasam V, Rosenfeld N, Pedersen JS, Ryan A, Haviv I, Costello AJ, Corcoran NM, Hovens CM.

Nat Commun. 2015 Apr 1;6:6605. doi: 10.1038/ncomms7605.

31.

AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

Hsu AL, Kondrashova O, Lunke S, Love CJ, Meldrum C, Marquis-Nicholson R, Corboy G, Pham K, Wakefield M, Waring PM, Taylor GR.

Hum Mutat. 2015 Apr;36(4):411-8. doi: 10.1002/humu.22763. Epub 2015 Mar 16.

PMID:
25664426
32.

Vascular histone deacetylation by pharmacological HDAC inhibition.

Rafehi H, Balcerczyk A, Lunke S, Kaspi A, Ziemann M, Kn H, Okabe J, Khurana I, Ooi J, Khan AW, Du XJ, Chang L, Haviv I, Keating ST, Karagiannis TC, El-Osta A.

Genome Res. 2014 Aug;24(8):1271-84. doi: 10.1101/gr.168781.113. Epub 2014 Apr 14.

33.

Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

Lunke S, El-Osta A.

Neurotherapeutics. 2013 Oct;10(4):677-87. doi: 10.1007/s13311-013-0209-2. Review.

34.

Exploring the utility of human DNA methylation arrays for profiling mouse genomic DNA.

Wong NC, Ng J, Hall NE, Lunke S, Salmanidis M, Brumatti G, Ekert PG, Craig JM, Saffery R.

Genomics. 2013 Jul;102(1):38-46. doi: 10.1016/j.ygeno.2013.04.014. Epub 2013 Apr 29.

35.

Role of histone acetylation in the stimulatory effect of valproic acid on vascular endothelial tissue-type plasminogen activator expression.

Larsson P, Ulfhammer E, Magnusson M, Bergh N, Lunke S, El-Osta A, Medcalf RL, Svensson PA, Karlsson L, Jern S.

PLoS One. 2012;7(2):e31573. doi: 10.1371/journal.pone.0031573. Epub 2012 Feb 20.

36.

Contraction-induced interleukin-6 gene transcription in skeletal muscle is regulated by c-Jun terminal kinase/activator protein-1.

Whitham M, Chan MH, Pal M, Matthews VB, Prelovsek O, Lunke S, El-Osta A, Broenneke H, Alber J, Brüning JC, Wunderlich FT, Lancaster GI, Febbraio MA.

J Biol Chem. 2012 Mar 30;287(14):10771-9. doi: 10.1074/jbc.M111.310581. Epub 2012 Feb 18.

37.

Genome-wide analysis distinguishes hyperglycemia regulated epigenetic signatures of primary vascular cells.

Pirola L, Balcerczyk A, Tothill RW, Haviv I, Kaspi A, Lunke S, Ziemann M, Karagiannis T, Tonna S, Kowalczyk A, Beresford-Smith B, Macintyre G, Kelong M, Hongyu Z, Zhu J, El-Osta A.

Genome Res. 2011 Oct;21(10):1601-15. doi: 10.1101/gr.116095.110. Epub 2011 Sep 2.

38.

Combining target enrichment with barcode multiplexing for high throughput SNP discovery.

Cummings N, King R, Rickers A, Kaspi A, Lunke S, Haviv I, Jowett JB.

BMC Genomics. 2010 Nov 18;11:641. doi: 10.1186/1471-2164-11-641.

39.

The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy.

Lunke S, El-Osta A.

J Neurochem. 2009 Jun;109(6):1557-69. doi: 10.1111/j.1471-4159.2009.06084.x. Epub 2009 Apr 4. Review.

40.

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.

Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E.

Hum Mol Genet. 2009 Jan 15;18(2):304-17. doi: 10.1093/hmg/ddn357. Epub 2008 Oct 29.

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