Associate Professor Sarah Kummerfeld

Associate Professor Sarah Kummerfeld

Associate Professor
Medicine & Health
School of Clinical Medicine

Associate Professor Sarah Kummerfeld is the Scientific Head of the Kinghorn Centre for Clinical Genomics at the Garvan Institute of Medical Research. She uses genomics to understand human disease and translate findings into clinical diagnostics and treatments. Sarah completed her PhD in Computational Biology at the University of Cambridge, working on protein structure and function prediction. Her postdoctoral research at Stanford University studied the molecular basis of human ageing.

Sarah has worked both in academia and industry, including 10 years as a Scientist at Genentech, based in the San Francisco Bay Area. At Genentech, she used large-scale genomics approaches to understand why only some patients respond to treatment and to identify diagnostic biomarkers that predict response to particular drugs. Sarah is dedicated to bringing applying advances in genomics research to benefit patients.

Location
Garvan Institute of Medical Research 384 Victoria St, Darlinghurst NSW 2010
  • Book Chapters | 2005
    Kummerfeld SK, 2005, 'Large‐scale protein annotation', in Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, Wiley, http://dx.doi.org/10.1002/047001153x.g403304
  • Journal articles | 2024
    Fellner A; Wali GM; Mahant N; Grosz BR; Ellis M; Narayanan RK; Ng K; Davis RL; Tchan MC; Kotschet K; Yeow D; Rudaks LI; Siow SF; Wali G; Yiannikas C; Hobbs M; Copty J; Geaghan M; Darveniza P; Liang C; Williams LJ; Chang FCF; Morales-Briceño H; Tisch S; Hayes M; Whyte S; Kummerfeld S; Kennerson ML; Cowley MJ; Fung VSC; Sue CM; Kumar KR, 2024, 'Genome sequencing reanalysis increases the diagnostic yield in dystonia', Parkinsonism and Related Disorders, 124, http://dx.doi.org/10.1016/j.parkreldis.2024.107010
    Journal articles | 2024
    Gunter HM; Youlten SE; Reis ALM; McCubbin T; Madala BS; Wong T; Stevanovski I; Cipponi A; Deveson IW; Santini NS; Kummerfeld S; Croucher PI; Marcellin E; Mercer TR, 2024, 'A universal molecular control for DNA, mRNA and protein expression', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-46456-9
    Journal articles | 2024
    Kahana-Edwin S; Torpy J; Cain LE; Mullins A; McCowage G; Woodfield SE; Vasudevan SA; Shea DPT; Minoche AE; Espinoza AF; Kummerfeld S; Goldstein LD; Karpelowsky J, 2024, 'Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine', Cancers, 16, http://dx.doi.org/10.3390/cancers16010012
    Journal articles | 2024
    Peña Martinez CD; Zeraati M; Rouet R; Mazigi O; Henry JY; Gloss B; Kretzmann JA; Evans CW; Ruggiero E; Zanin I; Marušič M; Plavec J; Richter SN; Bryan TM; Smith NM; Dinger ME; Kummerfeld S; Christ D, 2024, 'Human genomic DNA is widely interspersed with i-motif structures', EMBO Journal, 43, pp. 4786 - 4804, http://dx.doi.org/10.1038/s44318-024-00210-5
    Journal articles | 2023
    Crumbaker M; Goldstein LD; Murray DH; Tao J; Pathmanandavel S; Boulter N; Ratnayake L; Joshua AM; Kummerfeld S; Emmett L, 2023, 'Circulating Tumour DNA Biomarkers Associated with Outcomes in Metastatic Prostate Cancer Treated with Lutetium-177-PSMA-617', European Urology Open Science, 57, pp. 30 - 36, http://dx.doi.org/10.1016/j.euros.2023.08.007
    Journal articles | 2023
    Terrill B; McKnight L; Pearce A; Gordon H; Lo W; Lee ICJ; Runiewicz M; Palmer A; Andrews L; Kirk E; Goldberg D; Tucker J; Murray D; Kaplan W; Kummerfeld S; Burnett L, 2023, 'Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection', European Journal of Human Genetics, 31, pp. 257 - 261, http://dx.doi.org/10.1038/s41431-022-01251-2
    Journal articles | 2023
    Watson EC; Davis RL; Ravishankar S; Copty J; Kummerfeld S; Sue CM, 2023, 'Low disease risk and penetrance in Leber hereditary optic neuropathy', American Journal of Human Genetics, 110, pp. 166 - 169, http://dx.doi.org/10.1016/j.ajhg.2022.11.013
    Journal articles | 2022
    Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
    Journal articles | 2022
    Lin PI; Masi A; Moni MA; Kummerfeld S; Eapen V, 2022, 'Genetic Pathways Associated With Sleep Problems in Children With Autism Spectrum Disorder', Frontiers in Psychiatry, 13, http://dx.doi.org/10.3389/fpsyt.2022.904091
    Journal articles | 2022
    Pearce A; Terrill B; Alffenaar JW; Patanwala AE; Kummerfeld S; Day R; Young MA; Stocker SL, 2022, 'Pharmacogenomic testing: perception of clinical utility, enablers and barriers to adoption in Australian hospitals', Internal Medicine Journal, 52, pp. 1135 - 1143, http://dx.doi.org/10.1111/imj.15719
    Journal articles | 2022
    Tangye SG; Gray PE; Pillay BA; Yap JY; Figgett WA; Reeves J; Kummerfeld SK; Stoddard J; Uzel G; Jing H; Su HC; Campbell DE; Sullivan A; Burnett L; Peake J; Ma CS, 2022, 'Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8', Journal of Clinical Immunology, 42, pp. 119 - 129, http://dx.doi.org/10.1007/s10875-021-01152-x
    Journal articles | 2021
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, pp. 32, http://dx.doi.org/10.1186/s13073-021-00841-x
    Journal articles | 2021
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2020
    Mueller SA; Gauthier MEA; Blackburn J; Grady JP; Kraitsek S; Hajdu E; Dettmer MS; Dahlstrom JE; Lee CS; Luk PP; Yu B; Giger R; Kummerfeld S; Clark JR; Gupta R; Cowley MJ, 2020, 'Molecular patterns in salivary duct carcinoma identify prognostic subgroups', Modern Pathology, 33, pp. 1896 - 1909, http://dx.doi.org/10.1038/s41379-020-0576-2
    Journal articles | 2020
    Niño JLG; Tay SS; Tearle JLE; Xie J; Govendir MA; Kempe D; Mazalo J; Drew AP; Colakoglu F; Kummerfeld SK; Proud CG; Biro M, 2020, 'The lifeact-EGFP mouse is a translationally controlled fluorescent reporter of T cell activation', Journal of Cell Science, 133, http://dx.doi.org/10.1242/JCS.238014
    Journal articles | 2019
    Abed M; Verschueren E; Budayeva H; Liu P; Kirkpatrick DS; Reja R; Kummerfeld SK; Webster JD; Gierke S; Reichelt M; Anderson KR; Newman RJ; Roose-Girma M; Modrusan Z; Pektas H; Maltepe E; Newton K; Dixit VM, 2019, 'The Gag protein PEG10 binds to RNA and regulates trophoblast stem cell lineage specification', PLoS ONE, 14, http://dx.doi.org/10.1371/journal.pone.0214110
    Journal articles | 2019
    He M; Chaurushiya MS; Webster JD; Kummerfeld S; Reja R; Chaudhuri S; Chen YJ; Modrusan Z; Haley B; Dugger DL; Eastham-Anderson J; Lau S; Dey A; Caothien R; Roose-Girma M; Newton K; Dixit VM, 2019, 'Intrinsic apoptosis shapes the tumor spectrum linked to inactivation of the deubiquitinase BAP1', Science, 364, pp. 283 - 285, http://dx.doi.org/10.1126/science.aav4902
    Journal articles | 2019
    Kayagaki N; Lee BL; Stowe IB; Kornfeld OS; O'Rourke K; Mirrashidi KM; Haley B; Watanabe C; Roose-Girma M; Modrusan Z; Kummerfeld S; Reja R; Zhang Y; Cho V; Daniel Andrews T; Morris LX; Goodnow CC; Bertram EM; Dixit VM, 2019, 'IRF2 transcriptionally induces GSDMD expression for pyroptosis', Science Signaling, 12, http://dx.doi.org/10.1126/scisignal.aax4917
    Journal articles | 2019
    Kumar KR; Davis RL; Tchan MC; Wali GM; Mahant N; Ng K; Kotschet K; Siow SF; Gu J; Walls Z; Kang C; Wali G; Levy S; Phua CS; Yiannikas C; Darveniza P; Chang FCF; Morales-Briceño H; Rowe DB; Drew A; Gayevskiy V; Cowley MJ; Minoche AE; Tisch S; Hayes M; Kummerfeld S; Fung VSC; Sue CM, 2019, 'Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes', Parkinsonism and Related Disorders, 69, pp. 111 - 118, http://dx.doi.org/10.1016/j.parkreldis.2019.11.004
    Journal articles | 2019
    Lewis MJ; Barnes MR; Blighe K; Goldmann K; Rana S; Hackney JA; Ramamoorthi N; John CR; Watson DS; Kummerfeld SK; Hands R; Riahi S; Rocher-Ros V; Rivellese F; Humby F; Kelly S; Bombardieri M; Ng N; DiCicco M; van der Heijde D; Landewé R; van der Helm-van Mil A; Cauli A; McInnes IB; Buckley CD; Choy E; Taylor PC; Townsend MJ; Pitzalis C, 2019, 'Molecular Portraits of Early Rheumatoid Arthritis Identify Clinical and Treatment Response Phenotypes', Cell Reports, 28, pp. 2455 - 2470.e5, http://dx.doi.org/10.1016/j.celrep.2019.07.091
    Journal articles | 2018
    Dinoso JB; Gutierrez J; Choy DF; Kummerfeld S; Baruch A; Chambers HF; Rosenberger CM, 2018, 'Understanding heterogeneity in the host response to Staphylococcus aureus infection for prognostic biomarker discovery', Critical Care, 18, pp. 1 - 53, http://dx.doi.org/10.1186/cc14017
    Journal articles | 2018
    Lee BL; Mirrashidi KM; Stowe IB; Kummerfeld SK; Watanabe C; Haley B; Cuellar TL; Reichelt M; Kayagaki N, 2018, 'ASC- A nd caspase-8-dependent apoptotic pathway diverges from the NLRC4 inflammasome in macrophages', Scientific Reports, 8, http://dx.doi.org/10.1038/s41598-018-21998-3
    Journal articles | 2018
    Newton K; Dugger DL; Sengupta-Ghosh A; Ferrando RE; Chu F; Tao J; Lam W; Haller S; Chan S; Sa S; Dunlap D; Eastham-Anderson J; Ngu H; Hung J; French DM; Webster JD; Bolon B; Liu J; Reja R; Kummerfeld S; Chen YJ; Modrusan Z; Lewcock JW; Dixit VM, 2018, 'Ubiquitin ligase COP1 coordinates transcriptional programs that control cell type specification in the developing mouse brain', Proceedings of the National Academy of Sciences of the United States of America, 115, pp. 11244 - 11249, http://dx.doi.org/10.1073/pnas.1805033115
    Journal articles | 2017
    Oppikofer M; Sagolla M; Haley B; Zhang HM; Kummerfeld SK; Sudhamsu J; Flynn EM; Bai T; Zhang J; Ciferri C; Cochran AG, 2017, 'Non-canonical reader modules of BAZ1A promote recovery from DNA damage', Nature Communications, 8, http://dx.doi.org/10.1038/s41467-017-00866-0
    Journal articles | 2017
    Zhang Z; Newton K; Kummerfeld SK; Webster J; Kirkpatrick DS; Phu L; Eastham-Anderson J; Liu J; Lee WP; Wu J; Li H; Junttila MR; Dixit VM, 2017, 'Transcription factor Etv5 is essential for the maintenance of alveolar type II cells', Proceedings of the National Academy of Sciences of the United States of America, 114, pp. 3903 - 3908, http://dx.doi.org/10.1073/pnas.1621177114
    Journal articles | 2015
    Kayagaki N; Stowe IB; Lee BL; O'Rourke K; Anderson K; Warming S; Cuellar T; Haley B; Roose-Girma M; Phung QT; Liu PS; Lill JR; Li H; Wu J; Kummerfeld S; Zhang J; Lee WP; Snipas SJ; Salvesen GS; Morris LX; Fitzgerald L; Zhang Y; Bertram EM; Goodnow CC; Dixit VM, 2015, 'Caspase-11 cleaves gasdermin D for non-canonical inflammasome signalling', Nature, 526, pp. 666 - 671, http://dx.doi.org/10.1038/nature15541
    Journal articles | 2015
    Suriben R; Kaihara KA; Paolino M; Reichelt M; Kummerfeld SK; Modrusan Z; Dugger DL; Newton K; Sagolla M; Webster JD; Liu J; Hebrok M; Dixit VM, 2015, 'β-Cell Insulin Secretion Requires the Ubiquitin Ligase COP1', Cell, 163, pp. 1457 - 1467, http://dx.doi.org/10.1016/j.cell.2015.10.076
    Journal articles | 2014
    Dennis G; Holweg CTJ; Kummerfeld SK; Choy DF; Setiadi AF; Hackney JA; Haverty PM; Gilbert H; Lin WY; Diehl L; Fischer S; Song A; Musselman D; Klearman M; Gabay C; Kavanaugh A; Endres J; Fox DA; Martin F; Townsend MJ, 2014, 'Synovial phenotypes in rheumatoid arthritis correlate with response to biologic therapeutics', Arthritis Research and Therapy, 16, http://dx.doi.org/10.1186/ar4555
    Journal articles | 2014
    Sandmann T; Kummerfeld SK; Gentleman R; Bourgon R, 2014, 'GCMAP: User-friendly connectivity mapping with R', Bioinformatics, 30, pp. 127 - 128, http://dx.doi.org/10.1093/bioinformatics/btt592
    Journal articles | 2014
    Sun Y; Caplazi P; Zhang J; Mazloom A; Kummerfeld S; Quinones G; Senger K; Lesch J; Peng I; Sebrell A; Luk W; Lu Y; Lin Z; Barck K; Young J; Del Rio M; Lehar S; Asghari V; Lin WY; Mariathasan S; DeVoss J; Misaghi S; Balazs M; Sai T; Haley B; Hass PE; Xu M; Ouyang W; Martin F; Lee WP; Zarrin AA, 2014, 'PILRα negatively regulates mouse inflammatory arthritis', Journal of Immunology, 193, pp. 860 - 870, http://dx.doi.org/10.4049/jimmunol.1400045
    Journal articles | 2012
    Hogan VE; Holweg CTJ; Choy DF; Kummerfeld SK; Hackney JA; Teng YKO; Townsend MJ; Van Laar JM, 2012, 'Pretreatment synovial transcriptional profile is associated with early and late clinical response in rheumatoid arthritis patients treated with rituximab', Annals of the Rheumatic Diseases, 71, pp. 1888 - 1894, http://dx.doi.org/10.1136/annrheumdis-2011-201115
    Journal articles | 2011
    Choy DF; Modrek B; Abbas AR; Kummerfeld S; Clark HF; Wu LC; Fedorowicz G; Modrusan Z; Fahy JV; Woodruff PG; Arron JR, 2011, 'Gene expression patterns of Th2 inflammation and intercellular communication in asthmatic airways', Journal of Immunology, 186, pp. 1861 - 1869, http://dx.doi.org/10.4049/jimmunol.1002568
    Journal articles | 2009
    Kummerfeld SK; Teichmann SA, 2009, 'Protein domain organisation: Adding order', BMC Bioinformatics, 10, http://dx.doi.org/10.1186/1471-2105-10-39
    Journal articles | 2009
    Vaquerizas JM; Kummerfeld SK; Teichmann SA; Luscombe NM, 2009, 'A census of human transcription factors: Function, expression and evolution', Nature Reviews Genetics, 10, pp. 252 - 263, http://dx.doi.org/10.1038/nrg2538
    Journal articles | 2008
    Wilson D; Charoensawan V; Kummerfeld SK; Teichmann SA, 2008, 'DBD - Taxonomically broad transcription factor predictions: New content and functionality', Nucleic Acids Research, 36, http://dx.doi.org/10.1093/nar/gkm964
    Journal articles | 2007
    Zahn JM; Poosala S; Owen AB; Ingram DK; Lustig A; Carter A; Weeraratna AT; Taub DD; Gorospe M; Mazan-Mamczarz K; Lakatta EG; Boheler KR; Xu X; Mattson MP; Falco G; Ko MSH; Schlessinger D; Firman J; Kummerfeld SK; Wood WH; Zonderman AB; Kim SK; Becker KG, 2007, 'AGEMAP: A gene expression database for aging in mice', PLoS Genetics, 3, pp. 2326 - 2337, http://dx.doi.org/10.1371/journal.pgen.0030201
    Journal articles | 2006
    Frith MC; Bailey TL; Kasukawa T; Mignone F; Kummerfeld SK; Madera M; Sunkara S; Furuno M; Bult CJ; Quackenbush J; Kai C; Kawai J; Carninci P; Hayashizaki Y; Pesole G; Mattick JS, 2006, 'Discrimination of non-protein-coding transcripts from protein-coding mRNA', RNA Biology, 3, pp. 40 - 48, http://dx.doi.org/10.4161/rna.3.1.2789
    Journal articles | 2006
    Kummerfeld SK; Teichmann SA, 2006, 'DBD: a transcription factor prediction database.', Nucleic acids research, 34, http://dx.doi.org/10.1093/nar/gkj131
    Journal articles | 2005
    Bornberg-Bauer E; Beaussart F; Kummerfeld SK; Teichmann SA; Weiner J, 2005, 'The evolution of domain arrangements in proteins and interaction networks', Cellular and Molecular Life Sciences, 62, pp. 435 - 445, http://dx.doi.org/10.1007/s00018-004-4416-1
    Journal articles | 2005
    Carninci P; Kasukawa T; Katayama S; Gough J; Frith MC; Maeda N; Oyama R; Ravasi T; Lenhard B; Wells C; Kodzius R; Shimokawa K; Bajic VB; Brenner SE; Batalov S; Forrest ARR; Zavolan M; Davis MJ; Wilming LG; Aidinis V; Allen JE; Ambesi-Impiombato A; Apweiler R; Aturaliya RN; Bailey TL; Bansal M; Baxter L; Beisel KW; Bersano T; Bono H; Chalk AM; Chiu KP; Choudhary V; Christoffels A; Clutterbuck DR; Crowe ML; Dalla E; Dalrymple BP; Bono B; Gatta GD; Bernardo DD; Down T; Engstrom P; Fagiolini M; Faulkner G; Fletcher CF; Fukushima T; Furuno M; Futaki S; Gariboldi M; Georgii-Hemming P; Gingeras TR; Gojobori T; Green RE; Gustincich S; Harbers M; Hayashi Y; Hensch TK; Hirokawa N; Hill D; Huminiecki L; Iacono M; Ikeo K; Iwama A; Ishikawa T; Jakt M; Kanapin A; Katoh M; Kawasawa Y; Kelso J; Kitamura H; Kitano H; Kollias G; Krishnan SPT; Kruger A; Kummerfeld SK; Kurochkin IV; Lareau LF; Lazarevic D; Lipovich L; Liu J; Liuni S; McWilliam S; Babu MM; Madera M; Marchionni L; Matsuda H; Matsuzawa S; Miki H; Mignone F; Miyake S; Morris K; Mottagui-Tabar S; Mulder N; Nakano N; Nakauchi H; Ng P; Nilsson R; Nishiguchi S; Nishikawa S, 2005, 'Molecular biology: The transcriptional landscape of the mammalian genome', Science, 309, pp. 1559 - 1563, http://dx.doi.org/10.1126/science.1112014
    Journal articles | 2005
    Eichinger I; Pachebat JA; Glöckner G; Rajandream MA; Sucgang R; Berriman M; Song J; Olsen R; Szafranski K; Xu Q; Tunggal B; Kummerfeld S; Madera M; Konfortov BA; Rivero F; Bankier AT; Lehmann R; Hamlin N; Davies R; Gaudet P; Fey P; Pilcher K; Chen G; Saunders D; Sodergren E; Davis P; Kerhornou A; Nie X; Hall N; Anjard C; Hemphill L; Bason N; Farbrother P; Desany B; Just E; Morio T; Rost R; Churcher C; Cooper J; Haydock S; Van Driessche N; Cronin A; Goodhead I; Muzny D; Mourier T; Pain A; Lu M; Harper D; Lindsay R; Hauser H; James K; Quiles M; Madan Babu M; Saito T; Buchrieser C; Wardroper A; Felder M; Thangavelu M; Johnson D; Knights A; Loulseged H; Mungall K; Oliver K; Price C; Quail MA; Urushihara H; Hernandez J; Rabbinowitsch E; Steffen D; Sanders M; Ma J; Kohara Y; Sharp S; Simmonds M; Spiegler S; Tivey A; Sugano S; White B; Walker D; Woodward J; Winckler T; Tanaka Y; Shaulsky G; Schleicher M; Weinstock G; Rosenthal A; Cox EC; Chisholm RL; Gibbs R; Loomis WF; Platzer M; Kay RR; Williams J; Dear PH; Noegel AA; Barrell B; Kuspa A, 2005, 'The genome of the social amoeba Dictyostelium discoideum', Nature, 435, pp. 43 - 57, http://dx.doi.org/10.1038/nature03481
    Journal articles | 2005
    El-Sayed NM; Myler PJ; Blandin G; Berriman M; Crabtree J; Aggarwal G; Caler E; Renauld H; Worthey EA; Hertz-Fowler C; Ghedin E; Peacock C; Bartholomeu DC; Haas BJ; Tran AN; Wortman JR; Alsmark UCM; Angiuoli S; Anupama A; Badger J; Bringaud F; Cadag E; Carlton JM; Cerqueira GC; Creasy T; Delcher AL; Djikeng A; Embley TM; Hauser C; Ivens AC; Kummerfeld SK; Pereira-Leal JB; Nilsson D; Peterson J; Salzberg SL; Shallom J; Silva JC; Sundaram J; Westenberger S; White O; Melville SE; Donelson JE; Andersson B; Stuart KD; Hall N, 2005, 'Comparative genomics of trypanosomatid parasitic protozoa', Science, 309, http://dx.doi.org/10.1126/science.1112181
    Journal articles | 2005
    Kummerfeld SK; Teichmann SA, 2005, 'Relative rates of gene fusion and fission in multi-domain proteins', Trends in Genetics, 21, pp. 25 - 30, http://dx.doi.org/10.1016/j.tig.2004.11.007
    Journal articles | 2005
    Zahn JM; Poosala S; Owen AB; Ingram D; Lustig A; Carter A; Weeraratna AT; Taub DD; Gorospe M; Mazan-Mamczarz K; Lakatta E; Boheler KR; Xu X; Mattson MP; Falco G; Ko MSH; Schlessinger D; Firman J; Kummerfeld SK; Wood W; Longo DL; Zonderman AB; Kim SK; Becker KG, 2005, 'AGEMAP: a gene expression database for aging in mice', PLoS Genetics, preprint, pp. e201 - e201, http://dx.doi.org/10.1371/journal.pgen.0030201.eor
    Journal articles | 2004
    Madera M; Vogel C; Kummerfeld SK; Chothia C; Gough J, 2004, 'The SUPERFAMILY database in 2004: Additions and improvements', Nucleic Acids Research, 32
    Journal articles | 2003
    Kummerfeld SK; Weiss AS; Fekete A; Jermiin LS, 2003, 'AMID: autonomous modeler of intragenic duplication.', Applied bioinformatics, 2, pp. 169 - 176
    Journal articles | 2003
    McLachlan CS; Jusuf PR; Rummery N; Kummerfeld SK; Hambly B; McGuire MA; Turner V, 2003, 'Tyramide signal amplification enhances the detectable distribution of connexin-43 positive gap junctions across the ventricular wall of the rabbit heart', Archives of Histology and Cytology, 66, pp. 359 - 365, http://dx.doi.org/10.1679/aohc.66.359
    Journal articles | 2000
    McLachlan CS; Jelinek HF; Kummerfeld SK; Rummery N; McLachlan PD; Jusuf P; Driussi C; Yin J, 2000, 'A method to determine the fractal dimension of the cross-sectional jaggedness of the infarct scar edge', Redox Report, 5, pp. 119 - 121, http://dx.doi.org/10.1179/135100000101535401
    Journal articles | 2000
    McLachlan CS; Jelinek HF; Kummerfeld SK; Rummery NM; Jusuf PR; Hambly B; McGuire MA, 2000, 'Cross-sectional infarct edge jaggedness does not influence ventricular electrical stability in a rabbit model of late myocardial infarct healing', Redox Report, 5, pp. 122 - 123, http://dx.doi.org/10.1179/135100000101535410
  • Preprints | 2024
    Venkat A; Youlten SE; Juan BPS; Purcell C; Amodio M; Burkhardt DB; Benz A; Holst J; McCool C; Mollbrink A; Lundeberg J; van Dijk D; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, 2024, AAnet resolves a continuum of spatially-localized cell states to unveil tumor complexity, http://dx.doi.org/10.1101/2024.05.11.593705
    Preprints | 2022
    Kahana-Edwin S; Torpy J; Cain L; Mullins A; McCowage G; Woodfield S; Vasudevan S; Shea DPT; Minoche A; Kummerfeld S; Goldstein L; Karpelowsky J, 2022, A quantitative universal NGS-based ctDNA assay for hepatoblastoma, http://dx.doi.org/10.1101/2022.09.20.22279947
    Preprints | 2022
    Peña Martinez CD; Zeraati M; Rouet R; Mazigi O; Gloss B; Chan C-L; Bryan T; Smith N; Dinger M; Kummerfeld S; Christ D, 2022, Human genomic DNA is widely interspersed with i-motif structures, http://dx.doi.org/10.1101/2022.04.14.488274
    Conference Abstracts | 2021
    Dai P; Hollway G; Ohnesorg T; Hobbs M; Reeves J; Gray P; Wong M; Copty J; Enthoven K; Kummerfeld S; Monger S; Giannoulatou E; Lin M-W; Young M-A; Tangye S; Burnett L; Tri GP, 2021, 'RE-ANALYSIS OF WHOLE GENOME SEQUENCING DATA IN PATIENTS WITH UNDIAGNOSED INBORN ERRORS OF IMMUNITY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 51, pp. 23 - 23, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713717300054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    Kahana-Edwin S; Minoche A; Cain L; Mccowage G; Woodfield S; Vasudevan S; Kummerfeld S; Karpelowsky J, 2021, 'CTNNB1 Circulating Tumour DNA as a Putative Biomarker for Hepatoblastoma', in PEDIATRIC BLOOD & CANCER, WILEY, Vol. 68, pp. S1 - S2, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000708132100003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2021
    Kahana-Edwin S; Minoche AE; Cain LE; McCowage G; Woodfield SE; Vasudevan SA; Kummerfeld S; Karpelowsky J, 2021, 'Abstract 582: Utility of CTNNB1 ctDNA as a biomarker for hepatoblastoma', in Cancer Research, American Association for Cancer Research (AACR), pp. 582 - 582, presented at Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA, http://dx.doi.org/10.1158/1538-7445.am2021-582
    Conference Abstracts | 2021
    Kahana-Edwin S; Minoche AE; Cain LE; McCowage G; Woodfield SE; Vasudevan SA; Kummerfeld S; Karpelowsky J, 2021, 'Utility of CTNNB1 ctDNA as a biomarker for hepatoblastoma.', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Vol. 81, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000680263505304&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    Mueller SA; Gauthier M-EA; Blackburn J; Grady JP; Kratisek S; Dettmer MS; Dahlstrom JE; Lee CS; Luk P; Yu B; Giger R; Kummerfeld S; Clark J; Gupta R; Cowley MJ, 2021, 'Molecular patterns in salivary duct carcinoma identify prognostic subgroups', in ORAL ONCOLOGY, ELSEVIER, Vol. 118, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000669389300007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2020
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453
    Preprints | 2019
    Abed M; Verschueren E; Budayeva H; Liu P; Kirkpatrick DS; Reja R; Kummerfeld SK; Webster JD; Gierke S; Reichelt M; Anderson KR; Newman RJ; Roose-Girma M; Modrusan Z; Pektas H; Maltepe E; Newton K; Dixit VM, 2019, The Gag Protein PEG10 Binds to RNA and Regulates Trophoblast Stem Cell Lineage Specification, http://dx.doi.org/10.1101/572016
    Conference Abstracts | 2019
    Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313903088&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2013
    Setiadi AF; Lewin-Koh N; Kummerfeld S; Choy DF; Holweg CTJ; Fischer S; Song A; Townsend MJ, 2013, 'Synovial Subset-Derived Baseline Serum Biomarkers Segregate Rheumatoid Arthritis Patients Into Subgroups With Distinct Serum Protein and Clinical Characteristics', in ARTHRITIS AND RHEUMATISM, WILEY-BLACKWELL, CA, San Diego, pp. S552 - S553, presented at 77th Annual Meeting of the American-College-of-Rheumatology / 48th Annual Meeting of the Association-of-Rheumatology-Health-Professionals, CA, San Diego, 25 October 2013 - 30 October 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000325359203289&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Hogan V; Holweg C; Kummerfeld S; Teng O; Townsend M; van Laar JM, 2011, 'CHANGES IN GENE EXPRESSION IN SYNOVIAL TISSUE FROM REFRACTORY RHEUMATOID ARTHRITIS PATIENTS TREATED WITH RITUXIMAB', in RHEUMATOLOGY, OXFORD UNIV PRESS, ENGLAND, Brighton, pp. 118 - 119, presented at Annual Meeting of the British-Society-for-Rheumatology 2011, ENGLAND, Brighton, 12 April 2011 - 14 April 2011, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000289163800311&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Hogan V; Holweg C; Kummerfeld S; Teng YKO; Townsend M; van Laar JM, 2011, 'CHANGES IN GENE EXPRESSION IN SYNOVIAL TISSUE FROM REFRACTORY RHEUMATOID ARTHRITIS PATIENTS TREATED WITH RITUXIMAB', in ANNALS OF THE RHEUMATIC DISEASES, B M J PUBLISHING GROUP, NETHERLANDS, Amsterdam, presented at 31st European Workshop for Rheumatology Research, NETHERLANDS, Amsterdam, 03 March 2011 - 06 March 2011, http://dx.doi.org/10.1136/ard.2010.148965.8
    Conference Papers | 2011
    Hogan VE; Holweg CTJ; Choy DF; Kummerfeld S; Hackney J; Teng Y; Townsend MJ; Van Laar JM, 2011, 'Pretreatment Synovial Transcriptional Profile Predicts Early and Late Clinical Response in Rheumatoid Arthritis Patients Treated with Rituximab.', in ARTHRITIS AND RHEUMATISM, WILEY, IL, Chicago, pp. S170 - S171, presented at 75th Annual Scientific Meeting of the American-College-of-Rheumatology (ACR) / 46th Annual Scientific Meeting of the Association-of-Rheumatology-Health-Professionals (ARHP), IL, Chicago, 04 November 2011 - 09 November 2011, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000297621500446&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Choy DF; Modrek B; Abbas AR; Kummerfeld S; Clark HF; Wu LC; Fedorowicz G; Modrusan Z; Fahy JV; Woodruff P; Arron JR, 2010, 'A Continuum Of Inflammatory Gene Expression In Asthma Is Independent Of Airway Obstruction', in AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, AMER THORACIC SOC, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000208771003372&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Kummerfeld SK; Hackney JA; Townsend MJ; Clark HF, 2010, 'Rheumatoid Arthritis molecular heterogeneity', in Proceedings of the First ACM International Conference on Bioinformatics and Computational Biology, ACM, pp. 663 - 663, presented at BCB'10: ACM International Conference on Bioinformatics and Computational Biology, http://dx.doi.org/10.1145/1854776.1854907