Named authorships in peer-reviewed journals, book chapters, bulletin articles and research briefings (* and § indicate equal contribution):
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, …, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkramp H-J.
Nature Communications, 2024 Sep. - Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A*, Danyel M*, Grundmann K*, Brunet T*, …, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz PM§, Haack T§, Ehmke N§, Wagner M§.
Nature Genetics, 2024 Jul. - Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH.
Banerjee M, Rowley JW, Stubben CJ, Tolley ND, Freson F, Nelson B, Nagy Jr B, Fejes Z, Blair AM, Turro E, Gresele P, Taranta GC, Bury L, Falcinelli E, Lordkipanidzé M, Alessi M-D, Johnson AD, Bakchoul T, Ramstrom S, Frontini M, Camera M, Brambilla M, Campbell RA, Rondina MT.
Journal of Thrombosis and Haemostasis, 2024 Jun. - Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E.
Nature Medicine, 2024 May; 8(30):2165–2169. (Featured in Nature Reviews Neuroscience Research Highlight). - Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH.
Genetics in Medicine, 2024 Feb; 26(5):101097. - A deep intronic PKHD1 variant identified by SpliceAI in a deceased neonate with autosomal recessive polycystic kidney disease.
Richter F*, Rutherford KD*, Cooke AJ*, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E. (Featured in a Today Exclusive).
The American Journal of Kidney Diseases, 2024 Jan; 83(6):829–833. - A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk.
Verdier H, Thomas P, Batista J, Kempster C, McKinney H, Gleadall NS, Danesh J, Mumford AD, Heemskerk JWM, Ouwehand WH, Downes K, Astle WJ*, Turro E*.
Blood, 2023 Nov; 142(22):1851–1852. (Featured in Blood commentary: Genetics of predicted platelet reactivity.) - Discovering the genetic etiologies of rare diseases in large patient collections.
Greene D, Turro E.
Nature Medicine, 2023 Mar; 29:543–544. - Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D, Genomics England Research Consortium, Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys B, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E.
Nature Medicine, 2023 Mar; 29:679–688. (Featured in Nature Genetics Research Highlight). - MitoPhen database: a Human Phenotype Ontology-based approach to identify mitochondrial DNA diseases.
Ratnaike TE*, Greene D*, Wei W, Sanchis-Juan A, Schon KR, van den Ameele J, Raymond FL, Horvath R, Turro E§, Chinnery PF§.
Nucleic Acids Research, 2021 Sep; 49(17):9686–9695. - NRG1 fusions in breast cancer.
Howarth KD, Mirza T, Cooke SL, Chin SF, Pole JC, Turro E, Eldridge MD, Garcia RM, Rueda OM, Boursnell C, Abraham JE, Caldas C, Edwards PAW.
Breast Cancer Research, 2021 Jan; 23(1):3. - Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.
Shovlin C, Simeoni I, Downes K, Frazer Z, Megy K, Bernabéu-Herrero M, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin I, Aldred M, Penkett CJ, Ouwehand WH, Jovine L, Turro E.
Blood, 2020 Oct; 136(17):1907–1918. - Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC*, Mayer L*, Collins J*, Bariana T*, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden F, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou W, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart DP, Hurtaud MF, Kelly A, Kerr R, Le Quellec S, Leblanc TM, Leinøe EB, Mapeta RP, McKinney H, Michelson AD, Morais S, Nugent DJ, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JK, Zieger BMH, NIHR BioResource, Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber W, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA.
Blood, 2020 Oct; 136(17):1956–1967. (Featured on cover and in Blood commentary: Gray platelet syndrome: immunity goes awry.) - A coagulation defect arising from heterozygous premature termination of tissue factor.
Schulman S, El-Darzi E, Florido MH, Friesen M, Merrill-Skoloff G, Brake MA, Schuster CR, Lin L, Westrick RJ, Cowan CA, Flaumenhaft R, BioResource N, Ouwehand WH, Peerlinck K, Freson K, Turro E, Furie B.
Journal of Clinical Investigation, 2020 Oct; 130(10):5302–5312. (Featured in Science Translational Medicine‘s Editor’s Choice: The trouble with tissue factor.) - A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency.
Westbury SK, Whyte CS, Stephens J, Downes K, Turro E, Claesen K, Mertens JC, Hendriks D, Latif A-L, Leishman EJ, NIHR BioResource, Mutch NC, Tait RC, Mumford AD.
Journal of Thrombosis and Haemostasis, 2020 Sep; 18(9):2209–2214. - Cell type specific novel lncRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas.
Grassi L*, Izuogu OG*, Jorge NAN, Seyres D, Bustamante M, Burden F, Farrow S, Farahi N, Martin FJ, Frankish A, Mudge JM, Kostadima M, Petersen R, Lambourne JJ, Rowlston S, Martin-Rendon E, Clarke L, Downes K, Estivill X, Flicek P, Martens JHA, Yaspo ML, Stunnenberg HG, Ouwehand WH, Passetti F, Turro E§, Frontini M§.
Haematologica, 2021 Oct; 106:10. - Whole genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED*, Lango Allen H*, Burren OS*, Rae W*, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger R, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon A, Goddard S, Jolles S, Schuetz C, Boschann F, Primary Immunodeficiency Consortium for the NIHR BioResource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW§, Turro E§, Ouwehand WH§, Thrasher AJ§, Smith KGC.
Nature, 2020 Jul; 583:90–95. - Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NB, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR, NIHR BioResource for the 100 000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH.
Nature, 2020 Jul; 583:96–102. (Featured in The American Journal of Human Genetics Genomic Medicine Year in Review: 2020.) - Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan MV*, Hayman MA*, Sivapalaratnam S*, Crescente M, Allan HE, Edin ML, Zeldin DC, Milne GL, Stephens J, Greene D, Hanif M, O’Donnell VB, Lentaigne C, Wedderburn K, Stubbs M, Downes K, Ouwehand WH, Turro E, Hart DP, Freson K, Laffan MA§, Warner TD§.
Haematologica, 2021 May; 106:5. - Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta A, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams C, Genomics England, NIHR Bioresource, Fratter C, Turro E, Caulfield M, Taylor J, Rahman S, Chinnery P.
Nature Communications, 2020 Apr; 11:1740. - Monoallelic loss of function variants in THPO cause heritable thrombocytopenia.
Cornish N, Aungraheeta R, FitzGibbon L, Burley K, Alibhai D, Collins J, Greene D, NIHR BioResource, Westbury S, Turro E, Mumford A.
Blood Advances, 2020 Mar; 4(5):920–924. - Next-generation sequencing for the diagnosis of MYH9-RD.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus L, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett CJ, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, NIHR BioResource, Gomez K, Freson K, Ouwehand WH, Gresele P*, Simeoni I*
Human Mutation, 2020 Jan; 41(1):277–290. - mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity.
Waldron JA, Tack DC, Ritchey LE, Gillen SL, Wilczynska A, Turro E, Bevilacqua PC, Assmann SM, Bushell M, Le Quesne J.
Genome Biology, 2019 Dec; 20(1):300. - Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C*, Greene D*, Sivapalaratnam S*, Favier R*, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet J-C, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA, Frontini M, Freson K§, Turro E§.
Blood, 2019 Dec; 134(23):2070–2081. (Featured in Blood commentary: Pegasus causes inherited thrombocytopenia.) - Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
Downes K*, Megy K*, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Hasso NA, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ, NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.
Blood, 2019 Dec; 134(23):2082–2091. (Featured in Blood commentary: The next(gen) step in coagulation testing.) - Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S*, Köstel Bal S*, Egner W*, Lango Allen H*, Raza SI*, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K§, Milner JD§, Thaventhiran JED§.
Journal of Experimental Medicine, 2019 Sep; 216(9):1986–1998. - Inherited missense variants that affect GFI1B function are not necessarily causal of bleeding diatheses.
van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL, NIHR BioResource, Downes K, Freson K, van der Reijden BA.
Haematologica, 2019 Jun; 104(6):e260–e264. - Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell N, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AO, Williamson C, NIHR BioResource – Rare Diseases and the 100,000 Genomes Project – Rare Diseases Pilot, Ashford A, Penkett CJ, Stirrups KE, Rendon E, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E*, Chinnery PF*.
Science, 2019 May; 364(6442). (Featured in Nature Reviews Genetics Research Highlight.) - A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
Pudmakumar M, Jaeken J, Ramaekers V, Lagae L, Greene D, Thys C, Van Geet C, NIHR BioResource, Stirrups K, Downes K, Turro E, Freson K.
JIMD Reports, 2019 Mar; 47(1):9–16. - Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C , De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, NIHR BioResource, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K.
Haematologica, 2019 May; 104(5):1036–1045. - Transcription factor levels after forward programming of human pluripotent stem cells with GATA1, FLI1 and TAL1 determine megakaryocyte versus erythroid cell fate decision.
Dalby A*, Ballester-Beltrán J*, Lincetto C, Mueller A, Foad N, Evans A, Baye J, Turro E, Moreau T§, Tijssen MR§, Ghevaert C§.
Stem Cell Reports, 2018 Dec; 11(6):1462–1478. - A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet J-C, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa J-P, Nurden P, Bryckaert M.
Blood, 2018 Nov; 132(19):2067–2077. - GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Revel-Vilk S, Shai E, Turro E, Gashem N, Hi-Am E, Spectre G, Daum H, Kalish Y, Althaus K, Greinacher A, Kaplinsky C, Izraeli S, NIHR BioResource, Mapeta R, Deevi SVV, Ouwehand WH, Downes K, Poncz M, Varon D, Lambert M.
Blood, 2018 Oct, 132(17):1851–1854. - Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P*, Lango Allen H*, Burns SO*, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE§, Kuijpers TW§, NIHR BioResource.
Journal of Allergy and Clinical Immunology, 2018 Nov; 142:1285–1296. - Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Hofmann I*, Geer MJ*, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijper MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD§, Senis YA§.
Blood, 2018 Sep; 132(13):1399–1412. (Featured on cover.) - Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.
Heremans J*, Garcia-Perez JE*, Turro E, Schlenner SM, Casteels I, Collin R, De Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K, NIHR BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C§, Meyts I§, Freson K§ and Liston A§.
Journal of Allergy and Clinical Immunology, 2018 Aug; 142:630–646. - Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK*, Canault M*, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C, NIHR BioResource, Freson F, Laffan MA, Ouwehand WH, Alessi M-C, Turro E§, Mumford AD§.
Blood, 2017 Aug; 130(8):1026–1030. - Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Petersen R*, Lambourne JJ*, Javierre BM*, Grassi L*, Kreuzhuber R, Ruklisa D, Rosa IMR, Tomé AR, Elding H, van Geffen JP, Jiang T, Farrow S, Cairns J, …, Butterworth AS, Heemskerk JW, Turro E, Spivakov M, Ouwehand WH§, Astle WJ§, Downes K§, Kostadima M§, Frontini M§.
Nature Communications, 2017 Jul; 8:16058. - A fast association test for identifying pathogenic variants involved in rare diseases.
Greene D, NIHR BioResource, Richardson S, Turro E.
The American Journal of Human Genetics, 2017 Jul; 101(1):104–114. (Featured in Editor’s Corner This Month in The Journal). - High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.
Freson K, Turro E.
Journal of Thrombosis and Haemostasis, 2017 Jul; 15:1262–1272. - PIGO deficiency: palmoplantar keratoderma and novel mutations.
Morren MA*, Jaeken J*, Visser G, Salles I, van Geet C, NIHR BioResource, Simeoni I, Turro E, Freson K.
Orphanet Journal of Rare Diseases, 2017 May; 12:101. - ontologyX: A suite of R packages for working with ontological data.
Greene D, Richardson S, Turro E.
Bioinformatics, 2017 Jan; 33(7):1104–1106. - Mutations in tropomyosin 4 underlie a novel form of human macrothrombocytopenia.
Pleines I, Woods J, Chappaz S, Kew V, Foad N, Ballester-Beltrán J, Aurbach K, Lincetto C, Lane RM, Schevzov G, Alexander WS, Hilton DJ, Astle WJ, Downes K, Nurden P, Westbury SK, Mumford AD, Obaji SG, Collins PW, NIHR BioResource, Delerue F, Ittner LM, Bryce NS, Holliday M, Lucas CA, Hardeman EC, Ouwehand WH, Gunning PW, Turro E, Tijssen MR*, Kile BT*.
Journal of Clinical Investigation, 2017 Mar; 127(3):814–829. - Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M*, Canault M*, Favier M*, Turro E*, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, NIHR BioResource, Nurden AT, Nurden P, Freson K§, Trégoüet D-A§, Raslova H§, Alessi M-C§.
Haematologica, 2017 Feb; 102(2):282–294. - Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S*, Westbury SK*, Stephens JC*, Greene D*, Downes K, Kelly AM, Lentaigne C, Astle WJ, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD, NIHR BioResource, Laffan MA, Freson K§, Ouwehand WH§, Kunishima S§, Turro E§.
Blood, 2017 Jan; 129(4):520–524. (Featured in This Week in Blood alongside Inside Blood Commentary). - The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry, …, Turro E, …, Jacobsen JOB, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.
Nucleic Acids Research, 2017 Jan; D865–D876. - Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Burley K, Whyte CS, Westbury SK, Walker M, Stirrups KE, Turro E, NIHR BioResource, Chapman OG, Reilly-Stitt C, Mutch NJ, and Mumford A.
Blood, 2016 Oct; 128(14):1879–1883. - A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SVV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJA, Westbury SK, Greene D, Papadia S, …, Ravel-Vilk S, Gresele P, Bellissimo D, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K*, Freson K*, Ouwehand WH*, Turro E*.
Blood, 2016 Jun; 127(23):2791–2803. (See also editorial: Platelet disorders: the next generation is in. Rao AK and Natthapol S. Blood, 2016 Jun; 127(23):2781–2782.) - Inherited platelet disorders: towards DNA-based diagnosis.
Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH (on behalf of the BRIDGE-BPD Consortium and the ThromboGenomics Consortium).
Blood, 2016 Jun; 127(23):2814–2823. - A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S*, Nurden P*, Turro E*, Greene D, Jansen SBG, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, …, BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, Van Geet C, Raymond FL, Laffan MA, Nurden A, Nieswandt B, Richardson S, Freson K§, Ouwehand WH§, Mumford A§.
Blood, 2016 Jun; 127(23):2903–2914. (Featured on cover.) - Defects in TRPM7 channel function result in deregulated thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture.
Stritt S, Nurden P, Favier R, Favier M, Gotru SK, van Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Ferioli S, Mittermeier L, Ballerini P, Zierler S, NIHR BioResource, Chubanov V, Laffan MA, Gudermann T, Nieswandt B*, Braun A*.
Nature Communications, 2016 Mar; 7:11097. - Phenotype similarity regression for identifying the genetic determinants of rare diseases.
Greene D, NIHR BioResource, Richardson S*, Turro E*.
The American Journal of Human Genetics, 2016 Mar; 98(3):490–499. (Selected as one of the top papers of 2016 by the International Medical Informatics Association.) - A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding and bone pathologies.
Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett C, …, BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley J, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K*, Ouwehand WH*.
Science Translational Medicine, 2016 Mar; 8:328. (Featured on cover.) - A comparative study of RNA-seq analysis strategies.
Janes J*, Hu F*, Lewin AM, Turro E.
Briefings in Bioinformatics, 2015 Mar; 16(6):932–940. - A multi-centre validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia.
Chong W, Turro E, Metcalfe P, Yusuf R, Merieux Y, Rigal D, Porceljn L, Huiskes E, Lucas G, Bendukidze N, Green A, Fontão-Wendel R, Husebekk A, Dixey J, Guest A, Mushens R, Ouwehand WH, Navarrete C.
Transfusion, 2015 Nov; 55:2742–2751. - Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells.
Latos PA, Gonçalves Â, Oxley D, Mohammed H, Turro E, Hemberger M.
Nature Communications, 2015 Jul; 6:7776. - Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury S*, Turro E*, Greene D*, Kelly AM*, Lentaigne C*, Bariana T*, Simeoni I, Pillois X, …, Rendon A, Gomez K, Laffan M, Lambert M, Nurden P, Ouwehand WH§, Richardson S§, Mumford AD§, Freson K§ (on behalf of the BRIDGE-BPD Consortium).
Genome Medicine, 2015 Apr; 7:36. - The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape.
Modelska A, Turro E, Russell R, Beaton J, Sbarrato T, Spriggs K, Miller J, Gräf S, Provenzano E, Blows F, Pharoah P, Caldas C, Le Quesne J.
Cell Death & Disease, 2015 Jan, 6:e1603. (See also editorial: eIF4A1 is a promising new therapeutic target in ER-negative breast cancer. Stoneley M, Willis, A E. Cell Death & Differentiation, 2015 Jan; 22, 524–525.) - Hybrid mice reveal parent-of-origin and cis- and trans-regulatory effects in the retina.
Shen SQ, Turro E, Corbo JC.
PLoS ONE, 2014 Oct; 9(10):e109382. - Transcriptional diversity during lineage commitment of human blood progenitors.
Chen L*, Kostadima M*, Martens JHA*, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, …, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N§, Ouwehand WH§, Stunnenberg HG§, Frontini M§, Rendon A§.
Science, 2014 Sep; 345(6204):1251033. - The South Asian genome.
Chambers JC*, Abbott J*, Zhang W*, Turro E*, Scott WR, Tan S-T, Afzal U, Afaq S, Loh M, Lehne B, O’Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MS, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J§, Butcher S§, Elliott P§ and Kooner JS§.
PLoS ONE, 2014 Aug; 9(8):e102645. - Flexible analysis of RNA-seq data using mixed effects models.
Turro E, Astle WJ, Tavaré S.
Bioinformatics, 2014 Jan; 30(2):180–188. - Statistical analysis of mapped reads from mRNA-seq data.
Turro E, Lewin A.
In: Do K-A, Qin ZS, Vannucci M, eds. Advances in Statistical Bioinformatics: Models and Integrative Inference for High-Throughput Data. Cambridge, England: Cambridge University Press; 2013:77–104. - Induction of p16INK4α is the major barrier to proliferation when Epstein-Barr virus (EBV) transforms primary B cells into lymphoblastoid cell lines.
Skalska L, White RE, Parker GA, Turro E, Sinclair AJ, Paschos K, Allday MJ.
PLoS Pathogens, 2013 Feb; 9(2):e1003187. - Extensive compensatory cis-trans regulation dominates the evolution of mouse gene expression.
Gonçalves Â*, Leigh-Brown S*, Thybert D§, Stefflova K§, Turro E, Flicek P, Brazma A, Odom DT, Marioni JC.
Genome Research, 2012 Aug; 22(12):2376–84. - Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads.
Turro E, Su S-Y, Gonçalves  , Coin LJM, Richardson S, Lewin A.
Genome Biology, 2011 Feb; 12:R13. - Extensive cooperation between the Epstein-Barr virus EBNA3 proteins in the manipulation of host gene expression and epigenetic chromatin modification.
White RE, Groves IJ, Turro E, Yee J, Kremmer E, Allday MJ.
PLoS ONE, 2010 Nov; 5(11):e13979. - MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays.
Turro E, Lewin A, Rose A, Dallman MJ, Richardson S.
Nucleic Acids Research, 2010 Jan; 38(1):e4. - BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips.
Turro E, Bochkina N, Hein A-MK, Richardson S.
BMC Bioinformatics, 2007 Nov; 8:439. - BGX: Bayesian Hierarchical analysis of 3’ GeneChip data.
Turro E.
In ISBA Bulletin, Ed. Gottardo R. International Society for Bayesian Analysis, 2007 Sep; 14(3).