By Professor Sarah Kay Kummerfeld

Journal articles

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, pp. 404 - 435, http://dx.doi.org/10.1126/science.1112181

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

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

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

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, http://dx.doi.org/10.1371/journal.pgen.0030201.eor

Madera M; Vogel C; Kummerfeld SK; Chothia C; Gough J, 2004, 'The SUPERFAMILY database in 2004: Additions and improvements', Nucleic Acids Research, 32, pp. D235 - D239

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

Kummerfeld SK; Weiss AS; Fekete A; Jermiin LS, 2003, 'AMID: autonomous modeler of intragenic duplication.', Applied Bioinformatics, 2, pp. 169 - 176

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

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

Conference Papers

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, http://dx.doi.org/10.1158/1538-7445.am2021-582

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

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

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

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

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

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 Abstracts

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

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

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, PA, Philadelphia, Vol. 81, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), PA, Philadelphia, 10 April 2021 - 21 May 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, pp. 4, http://dx.doi.org/10.1016/s1368-8375(21)00268-2

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, http://dx.doi.org/10.26190/unsworks/27545

Preprints

Kahana-Edwin S; Torpy J; Cain LE; Mullins A; McCowage G; Woodfield SE; Vasudevan SA; Shea DPT; Minoche AE; Kummerfeld S; Goldstein LD; Karpelowsky J, A quantitative universal NGS-based ctDNA assay for hepatoblastoma, http://dx.doi.org/10.1101/2022.09.20.22279947

Venkat A; Youlten SE; San Juan BP; 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, AAnet resolves a continuum of spatially-localized cell states to unveil tumor complexity, http://dx.doi.org/10.1101/2024.05.11.593705

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, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Martinez CDP; Zeraati ; Rouet R; Mazigi O; Gloss B; Chan C-L; Bryan TM; Smith NM; Dinger ME; Kummerfeld S; Christ D, Human genomic DNA is widely interspersed with i-motif structures, http://dx.doi.org/10.1101/2022.04.14.488274

Watson E; Qian G; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint, http://dx.doi.org/10.64898/2026.06.24.26356498

Watson E; Qian G; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort, http://dx.doi.org/10.64898/2026.06.24.26356403

Watson EC; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Population nuclear mitochondrial disease risk estimated from nuclear disease gene variants in a healthy older cohort, http://dx.doi.org/10.64898/2026.05.14.26353160

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, The Gag Protein PEG10 Binds to RNA and Regulates Trophoblast Stem Cell Lineage Specification, http://dx.doi.org/10.1101/572016

Other

Venkat A; Youlten SE; San Juan BP; Purcell CA; Gupta S; Amodio M; Neumann DP; Lock JG; Westacott AE; McCool CS; Burkhardt DB; Benz A; Mollbrink A; Lundeberg J; van Dijk D; Holst J; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, 2025, Data from AAnet Resolves a Continuum of Spatially Localized Cell States to Unveil Intratumoral Heterogeneity, http://dx.doi.org/10.1158/2159-8290.c.8072557

Venkat A; Youlten SE; San Juan BP; Purcell CA; Gupta S; Amodio M; Neumann DP; Lock JG; Westacott AE; McCool CS; Burkhardt DB; Benz A; Mollbrink A; Lundeberg J; van Dijk D; Holst J; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, 2025, Figures S1-9 from AAnet Resolves a Continuum of Spatially Localized Cell States to Unveil Intratumoral Heterogeneity, http://dx.doi.org/10.1158/2159-8290.30284386

Venkat A; Youlten SE; San Juan BP; Purcell CA; Gupta S; Amodio M; Neumann DP; Lock JG; Westacott AE; McCool CS; Burkhardt DB; Benz A; Mollbrink A; Lundeberg J; van Dijk D; Holst J; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, 2025, Supplementary Table 1 from AAnet Resolves a Continuum of Spatially Localized Cell States to Unveil Intratumoral Heterogeneity, http://dx.doi.org/10.1158/2159-8290.30284383

Venkat A; Youlten SE; San Juan BP; Purcell CA; Gupta S; Amodio M; Neumann DP; Lock JG; Westacott AE; McCool CS; Burkhardt DB; Benz A; Mollbrink A; Lundeberg J; van Dijk D; Holst J; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, 2025, Supplementary Table 2 from AAnet Resolves a Continuum of Spatially Localized Cell States to Unveil Intratumoral Heterogeneity, http://dx.doi.org/10.1158/2159-8290.30284380

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