Timothy Hughes

  • Project leader
  • +47 991 61 818

Challenges
The advent of High Through-put sequencing has revolutionized both practice and research within the field of Medical Genetics. In order to exploit the power that lies within the huge datasets generated by this technology, one needs the computational and bioinformatics skills to generate, store and analyse these data. The projects in which we participate (either as lead or as a collaborative partner) usually involve a large component of bioinformatics analysis of HTS data.

Projects

  • Sequencing of repetitive regions using single molecule sequencing technologies.
  • GenAP (with Dag Undlien): development of a national hardware and software infrastructure for the storage, analysis and communication of patient genomic data, with the goal of facilitating personalised medicine in Norway.
  • Causes of mendelian disorders in particular in progressive encephalopathies (with Eirik Frengen).
  • ChIPseq scale-down to low cell numbers (with Gregor Gilfillan).
  • Addisons disease (with Dag Undlien)
  • Role of ANK3 in the etiology of bipolar disorder (with Srdjan Djurovic)

 

 

Publications 2023

Osete JR, Akkouh IA, Ievglevskyi O, Vandenberghe M, de Assis DR, Ueland T, Kondratskaya E, Holen B, Szabo A, Hughes T, Smeland OB, Steen VM, Andreassen OA, Djurovic S (2023)
Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids
Mol Psychiatry (in press)
DOI 10.1038/s41380-023-01944-0, PubMed 36653674

Torsvik A, Brattbakk HR, Trentani A, Holdhus R, Stansberg C, Bartz-Johannessen CA, Hughes T, Steen NE, Melle I, Djurovic S, Andreassen OA, Steen VM (2023)
Patients with schizophrenia and bipolar disorder display a similar global gene expression signature in whole blood that reflects elevated proportion of immature neutrophil cells with association to lipid changes
Transl Psychiatry, 13 (1), 147
DOI 10.1038/s41398-023-02442-1, PubMed 37147304

Publications 2022

Gosling RC, Gunn E, Wei HL, Gu Y, Rammohan V, Hughes T, Hose DR, Lawford PV, Gunn JP, Morris PD (2022)
Incorporating clinical parameters to improve the accuracy of angiography-derived computed fractional flow reserve
Eur Heart J Digit Health, 3 (3), 481-488
DOI 10.1093/ehjdh/ztac045, PubMed 36712154

Holmgren A, Hansson L, Bjerkaas-Kjeldal K, Impellizzeri AAR, Gilfillan GD, Djurovic S, Hughes T (2022)
Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain
Transl Psychiatry, 12 (1), 45
DOI 10.1038/s41398-022-01784-6, PubMed 35091539

Kutyna MM, Kok CH, Lim Y, Tran ENH, Campbell D, Paton S, Thompson-Peach C, Lim K, Cakouros D, Arthur A, Hughes T, Kumar S, Thomas D, Gronthos S, Hiwase DK (2022)
A senescence stress secretome is a hallmark of therapy-related myeloid neoplasm stromal tissue occurring soon after cytotoxic exposure
Leukemia, 36 (11), 2678-2689
DOI 10.1038/s41375-022-01686-y, PubMed 36038666

Peter KM, Pike JR, Preisser JS, Kucharska-Newton AM, Meyer ML, Mirabelli MC, Palta P, Hughes T, Matsushita K, Lu Y, Heiss G (2022)
Decline in Lung Function From Mid-to Late-Life With Central Arterial Stiffness: The Atherosclerosis Risk in Communities Study
Angiology, 73 (10), 967-975
DOI 10.1177/00033197221105747, PubMed 35624428

Shanmuganathan N, Wadham C, Thomson D, Shahrin NH, Vignaud C, Obourn V, Chaturvedi S, Yang F, Feng J, Saunders V, Kok CH, Yeung D, King RM, Kenyon RR, Lin M, Wang P, Scott H, Hughes T, Schreiber AW, Branford S (2022)
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia
J Mol Diagn, 24 (7), 803-822
DOI 10.1016/j.jmoldx.2022.04.004, PubMed 35550185

Publications 2021

Akkouh IA, Hughes T, Steen VM, Glover JC, Andreassen OA, Djurovic S, Szabo A (2021)
Transcriptome analysis reveals disparate expression of inflammation-related miRNAs and their gene targets in iPSC-astrocytes from people with schizophrenia
Brain Behav Immun, 94, 235-244
DOI 10.1016/j.bbi.2021.01.037, PubMed 33571628

Chen S, Fan L, Song J, Zhang H, Doucette C, Hughes T, Campbell L (2021)
Quantitative proteomic analysis of Neosartorya pseudofischeri ascospores subjected to heat treatment
J Proteomics, 252, 104446
DOI 10.1016/j.jprot.2021.104446, PubMed 34883268

Kelly L, Dreher D, Kim G, Hughes T, Sabouri AS (2021)
Placement of a Peripherally Inserted Central Catheter in a Prone Patient With COVID-19: Feasibility and Case Report
J Infus Nurs, 44 (4), 199-202
DOI 10.1097/NAN.0000000000000430, PubMed 34197349

Krull F, Akkouh I, Hughes T, Bettella F, Athanasiu L, Smeland OB, O'Connell KS, Brattbakk HR, Steen VM, Steen NE, Djurovic S, Andreassen OA (2021)
Dose-dependent transcriptional effects of lithium and adverse effect burden in a psychiatric cohort
Prog Neuropsychopharmacol Biol Psychiatry, 112, 110408
DOI 10.1016/j.pnpbp.2021.110408, PubMed 34320404

O'Connell KS, Sønderby IE, Frei O, van der Meer D, Athanasiu L, Smeland OB, Alnæs D, Kaufmann T, Westlye LT, Steen VM, Andreassen OA, Hughes T, Djurovic S (2021)
Association between complement component 4A expression, cognitive performance and brain imaging measures in UK Biobank
Psychol Med, 52 (15), 1-11 (in press)
DOI 10.1017/S0033291721000179, PubMed 33653435

Osete JR, Akkouh IA, de Assis DR, Szabo A, Frei E, Hughes T, Smeland OB, Steen NE, Andreassen OA, Djurovic S (2021)
Lithium increases mitochondrial respiration in iPSC-derived neural precursor cells from lithium responders
Mol Psychiatry, 26 (11), 6789-6805
DOI 10.1038/s41380-021-01164-4, PubMed 34075196

Reis de Assis D, Szabo A, Requena Osete J, Puppo F, O'Connell KS, A Akkouh I, Hughes T, Frei E, A Andreassen O, Djurovic S (2021)
Using iPSC Models to Understand the Role of Estrogen in Neuron-Glia Interactions in Schizophrenia and Bipolar Disorder
Cells, 10 (2)
DOI 10.3390/cells10020209, PubMed 33494281

Szabo A, Akkouh IA, Vandenberghe M, Osete JR, Hughes T, Heine V, Smeland OB, Glover JC, Andreassen OA, Djurovic S (2021)
A human iPSC-astroglia neurodevelopmental model reveals divergent transcriptomic patterns in schizophrenia
Transl Psychiatry, 11 (1), 554
DOI 10.1038/s41398-021-01681-4, PubMed 34716291

Publications 2020

Akkouh IA, Ueland T, Hansson L, Inderhaug E, Hughes T, Steen NE, Aukrust P, Andreassen OA, Szabo A, Djurovic S (2020)
Decreased IL-1β-induced CCL20 response in human iPSC-astrocytes in schizophrenia: Potential attenuating effects on recruitment of regulatory T cells
Brain Behav Immun, 87, 634-644
DOI 10.1016/j.bbi.2020.02.008, PubMed 32109548

Hughes T, Hansson L, Akkouh I, Hajdarevic R, Bringsli JS, Torsvik A, Inderhaug E, Steen VM, Djurovic S (2020)
Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations
Sci Rep, 10 (1), 9101
DOI 10.1038/s41598-020-65675-w, PubMed 32499510

Publications 2019

Akkouh IA, Skrede S, Holmgren A, Ersland KM, Hansson L, Bahrami S, Andreassen OA, Steen VM, Djurovic S, Hughes T (2019)
Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study
Neuropsychopharmacology, 45 (6), 947-955
DOI 10.1038/s41386-019-0556-8, PubMed 31652432

Chirinos JA, Segers P, Hughes T, Townsend R (2019)
Large-Artery Stiffness in Health and Disease: JACC State-of-the-Art Review
J Am Coll Cardiol, 74 (9), 1237-1263
DOI 10.1016/j.jacc.2019.07.012, PubMed 31466622

Dipietro L, Campbell WW, Buchner DM, Erickson KI, Powell KE, Bloodgood B, Hughes T, Day KR, Piercy KL, Vaux-Bjerke A, Olson RD, 2018 PHYSICAL ACTIVITY GUIDELINES ADVISORY COMMITTEE* (2019)
Physical Activity, Injurious Falls, and Physical Function in Aging: An Umbrella Review
Med Sci Sports Exerc, 51 (6), 1303-1313
DOI 10.1249/MSS.0000000000001942, PubMed 31095087

Lim DJ, Ambale-Ventakesh B, Ostovaneh MR, Zghaib T, Ashikaga H, Wu C, Watson KE, Hughes T, Shea S, Heckbert SR, Bluemke DA, Post WS, Lima JAC (2019)
Change in left atrial function predicts incident atrial fibrillation: the Multi-Ethnic Study of Atherosclerosis
Eur Heart J Cardiovasc Imaging, 20 (9), 979-987
DOI 10.1093/ehjci/jez176, PubMed 31356656

Publications 2018

Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T, Djurovic S (2018)
Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
Sci Rep, 8 (1), 12654
DOI 10.1038/s41598-018-30898-5, PubMed 30139959

Fan L, Martynenko A, Doucette C, Hughes T, Fillmore S (2018)
Microbial Quality and Shelf Life of Blueberry Purée Developed Using Cavitation Technology
J Food Sci, 83 (3), 732-739
DOI 10.1111/1750-3841.14073, PubMed 29469934

Hercus TR, Kan WLT, Broughton SE, Tvorogov D, Ramshaw HS, Sandow JJ, Nero TL, Dhagat U, Thompson EJ, Shing KSCT, McKenzie DR, Wilson NJ, Owczarek CM, Vairo G, Nash AD, Tergaonkar V, Hughes T, Ekert PG, Samuel MS, Bonder CS, Grimbaldeston MA, Parker MW, Lopez AF (2018)
Role of the β Common (βc) Family of Cytokines in Health and Disease
Cold Spring Harb Perspect Biol, 10 (6)
DOI 10.1101/cshperspect.a028514, PubMed 28716883

Hiwase D, Tan P, D'Rozario J, Taper J, Powell A, Irving I, Wright M, Branford S, Yeung DT, Anderson L, Gervasio O, Levetan C, Roberts W, Solterbeck A, Traficante R, Hughes T (2018)
Efficacy and safety of nilotinib 300 mg twice daily in patients with chronic myeloid leukemia in chronic phase who are intolerant to prior tyrosine kinase inhibitors: Results from the Phase IIIb ENESTswift study
Leuk Res, 67, 109-115
DOI 10.1016/j.leukres.2018.02.013, PubMed 29494928

Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S (2018)
Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
Transl Psychiatry, 8 (1), 210
DOI 10.1038/s41398-018-0175-x, PubMed 30297702

Rawlings AM, Juraschek SP, Heiss G, Hughes T, Meyer ML, Selvin E, Sharrett AR, Windham BG, Gottesman RF (2018)
Association of orthostatic hypotension with incident dementia, stroke, and cognitive decline
Neurology, 91 (8), e759-e768
DOI 10.1212/WNL.0000000000006027, PubMed 30045960

Ray P, Hughes T, Smith C, Simon GP, Saito K (2018)
Synthesis of Bioacrylic Polymers from Dihydro-5-hydroxyl furan-2-one (2H-HBO) by Free and Controlled Radical Polymerization
ACS Omega, 3 (2), 2040-2048
DOI 10.1021/acsomega.7b01929, PubMed 31458513

Segorbe D, Wilkinson D, Mizeranschi A, Hughes T, Aaløkken R, Váchová L, Palková Z, Gilfillan GD (2018)
An optimized FAIRE procedure for low cell numbers in yeast
Yeast, 35 (8), 507-512
DOI 10.1002/yea.3316, PubMed 29577419

Witoelar A, Rongve A, Almdahl IS, Ulstein ID, Engvig A, White LR, Selbæk G, Stordal E, Andersen F, Brækhus A, Saltvedt I, Engedal K, Hughes T, Bergh S, Bråthen G, Bogdanovic N, Bettella F, Wang Y, Athanasiu L, Bahrami S, Le Hellard S, Giddaluru S, Dale AM, Sando SB, Steinberg S et al. (2018)
Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci
Sci Rep, 8 (1), 18088
DOI 10.1038/s41598-018-36429-6, PubMed 30591712

Publications 2017

Banjar H, Ranasinghe D, Brown F, Adelson D, Kroger T, Leclercq T, White D, Hughes T, Chaudhri N (2017)
Modelling Predictors of Molecular Response to Frontline Imatinib for Patients with Chronic Myeloid Leukaemia
PLoS One, 12 (1), e0168947
DOI 10.1371/journal.pone.0168947, PubMed 28045960

Collins KM, Kainov YA, Christodolou E, Ray D, Morris Q, Hughes T, Taylor IA, Makeyev EV, Ramos A (2017)
An RRM-ZnF RNA recognition module targets RBM10 to exonic sequences to promote exon exclusion
Nucleic Acids Res, 45 (11), 6761-6774
DOI 10.1093/nar/gkx225, PubMed 28379442

Maršíková J, Wilkinson D, Hlaváček O, Gilfillan GD, Mizeranschi A, Hughes T, Begany M, Rešetárová S, Váchová L, Palková Z (2017)
Metabolic differentiation of surface and invasive cells of yeast colony biofilms revealed by gene expression profiling
BMC Genomics, 18 (1), 814
DOI 10.1186/s12864-017-4214-4, PubMed 29061122

Nicolini FE, Basak GW, Kim DW, Olavarria E, Pinilla-Ibarz J, Apperley JF, Hughes T, Niederwieser D, Mauro MJ, Chuah C, Hochhaus A, Martinelli G, DerSarkissian M, Duh MS, McGarry LJ, Kantarjian HM, Cortes JE (2017)
Overall survival with ponatinib versus allogeneic stem cell transplantation in Philadelphia chromosome-positive leukemias with the T315I mutation
Cancer, 123 (15), 2875-2880
DOI 10.1002/cncr.30558, PubMed 28387926

Rasmussen HB, Madsen MB, Lyauk YK, Hansen PR, Hughes T, INDICES Consortium (2017)
Carboxylesterase 1A2 encoding gene with increased transcription and potential rapid drug metabolism in Asian populations
Drug Metab Pers Ther, 32 (3), 163-168
DOI 10.1515/dmpt-2017-0012, PubMed 28803225

Publications 2016

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039

Lipton JH, Chuah C, Guerci-Bresler A, Rosti G, Simpson D, Assouline S, Etienne G, Nicolini FE, le Coutre P, Clark RE, Stenke L, Andorsky D, Oehler V, Lustgarten S, Rivera VM, Clackson T, Haluska FG, Baccarani M, Cortes JE, Guilhot F, Hochhaus A, Hughes T, Kantarjian HM, Shah NP, Talpaz M et al. (2016)
Ponatinib versus imatinib for newly diagnosed chronic myeloid leukaemia: an international, randomised, open-label, phase 3 trial
Lancet Oncol, 17 (5), 612-21
DOI 10.1016/S1470-2045(16)00080-2, PubMed 27083332

Selvarajah D, Hughes T, Reeves J, Boland E, Marques J, Gandhi R, Griffiths PD, Tesfaye S, Wilkinson ID (2016)
A preliminary study of brain macrovascular reactivity in impaired glucose tolerance and type-2 diabetes: Quantitative internal carotid artery blood flow using magnetic resonance phase contrast angiography
Diab Vasc Dis Res, 13 (5), 367-72
DOI 10.1177/1479164116644404, PubMed 27190084

Sopper S, Mustjoki S, White D, Hughes T, Valent P, Burchert A, Gjertsen BT, Gastl G, Baldauf M, Trajanoski Z, Giles F, Hochhaus A, Ernst T, Schenk T, Janssen JJ, Ossenkoppele GJ, Porkka K, Wolf D (2016)
Reduced CD62L Expression on T Cells and Increased Soluble CD62L Levels Predict Molecular Response to Tyrosine Kinase Inhibitor Therapy in Early Chronic-Phase Chronic Myelogenous Leukemia
J Clin Oncol, 35 (2), 175-184
DOI 10.1200/JCO.2016.67.0893, PubMed 28056193

Sundaram AY, Hughes T, Biondi S, Bolduc N, Bowman SK, Camilli A, Chew YC, Couture C, Farmer A, Jerome JP, Lazinski DW, McUsic A, Peng X, Shazand K, Xu F, Lyle R, Gilfillan GD (2016)
A comparative study of ChIP-seq sequencing library preparation methods
BMC Genomics, 17 (1), 816
DOI 10.1186/s12864-016-3135-y, PubMed 27769162

Tesli M, Wirgenes KV, Hughes T, Bettella F, Athanasiu L, Hoseth ES, Nerhus M, Lagerberg TV, Steen NE, Agartz I, Melle I, Dieset I, Djurovic S, Andreassen OA (2016)
VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
Br J Psychiatry, 209 (2), 114-20
DOI 10.1192/bjp.bp.115.161950, PubMed 26941264

Publications 2015

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973

Chung J, Smith AL, Hughes SC, Niizawa G, Abdel-Hamid HZ, Naylor EW, Hughes T, Clemens PR (2015)
Twenty-year follow-up of newborn screening for patients with muscular dystrophy
Muscle Nerve, 53 (4), 570-8
DOI 10.1002/mus.24880, PubMed 26260293

Hughes T, Hansson L, Sønderby IE, Athanasiu L, Zuber V, Tesli M, Song J, Hultman CM, Bergen SE, Landén M, Melle I, Andreassen OA, Djurovic S (2015)
A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia
Biol Psychiatry, 80 (4), 323-330
DOI 10.1016/j.biopsych.2015.09.021, PubMed 26682468

Publications 2014

Hughes T, Harrer JU (2014)
Treating arterial disease to prevent brain injury: Break out the bubbly or back to the bench?
Neurology, 84 (5), 440-1
DOI 10.1212/WNL.0000000000001218, PubMed 25552574

Olshen A, Tang M, Cortes J, Gonen M, Hughes T, Branford S, Quintás-Cardama A, Michor F (2014)
Dynamics of chronic myeloid leukemia response to dasatinib, nilotinib, and high-dose imatinib
Haematologica, 99 (11), 1701-9
DOI 10.3324/haematol.2013.085977, PubMed 25216683

Steiner T, Francescut L, Byrne S, Hughes T, Jayanthi A, Guschina I, Harwood J, Cianflone K, Stover C, Francis S (2014)
Protective role for properdin in progression of experimental murine atherosclerosis
PLoS One, 9 (3), e92404
DOI 10.1371/journal.pone.0092404, PubMed 24667818

Wirgenes KV, Tesli M, Inderhaug E, Athanasiu L, Agartz I, Melle I, Hughes T, Andreassen OA, Djurovic S (2014)
ANK3 gene expression in bipolar disorder and schizophrenia
Br J Psychiatry, 205 (3), 244-5
DOI 10.1192/bjp.bp.114.145433, PubMed 24809399

Publications 2013

Gallipoli P, Stobo J, Heaney N, Nicolini FE, Clark R, Wilson G, Tighe J, McLintock L, Hughes T, Michor F, Paul J, Drummond M, Holyoake TL (2013)
Safety and efficacy of pulsed imatinib with or without G-CSF versus continuous imatinib in chronic phase chronic myeloid leukaemia patients at 5 years follow-up
Br J Haematol, 163 (5), 674-6
DOI 10.1111/bjh.12532, PubMed 24032404

Hercus TR, Dhagat U, Kan WL, Broughton SE, Nero TL, Perugini M, Sandow JJ, D'Andrea RJ, Ekert PG, Hughes T, Parker MW, Lopez AF (2013)
Signalling by the βc family of cytokines
Cytokine Growth Factor Rev, 24 (3), 189-201
DOI 10.1016/j.cytogfr.2013.03.002, PubMed 23535386

Hughes T, White D (2013)
Which TKI? An embarrassment of riches for chronic myeloid leukemia patients
Hematology Am Soc Hematol Educ Program, 2013, 168-75
DOI 10.1182/asheducation-2013.1.168, PubMed 24319178

White HE, Hedges J, Bendit I, Branford S, Colomer D, Hochhaus A, Hughes T, Kamel-Reid S, Kim DW, Modur V, Müller MC, Pagnano KB, Pane F, Radich J, Cross NC, Labourier E (2013)
Establishment and validation of analytical reference panels for the standardization of quantitative BCR-ABL1 measurements on the international scale
Clin Chem, 59 (6), 938-48
DOI 10.1373/clinchem.2012.196477, PubMed 23471097

Publications 2012

Cortes J, Goldman JM, Hughes T (2012)
Current issues in chronic myeloid leukemia: monitoring, resistance, and functional cure
J Natl Compr Canc Netw, 10 Suppl 3, S1-S13
DOI 10.6004/jnccn.2012.0184, PubMed 23055247

Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
Limitations and possibilities of low cell number ChIP-seq
BMC Genomics, 13, 645
DOI 10.1186/1471-2164-13-645, PubMed 23171294

Hamfjord J, Stangeland AM, Hughes T, Skrede ML, Tveit KM, Ikdahl T, Kure EH (2012)
Differential expression of miRNAs in colorectal cancer: comparison of paired tumor tissue and adjacent normal mucosa using high-throughput sequencing
PLoS One, 7 (4), e34150
DOI 10.1371/journal.pone.0034150, PubMed 22529906

Hercus TR, Broughton SE, Ekert PG, Ramshaw HS, Perugini M, Grimbaldeston M, Woodcock JM, Thomas D, Pitson S, Hughes T, D'Andrea RJ, Parker MW, Lopez AF (2012)
The GM-CSF receptor family: mechanism of activation and implications for disease
Growth Factors, 30 (2), 63-75
DOI 10.3109/08977194.2011.649919, PubMed 22257375

Publications 2011

Cortes J, Hochhaus A, Hughes T, Kantarjian H (2011)
Front-line and salvage therapies with tyrosine kinase inhibitors and other treatments in chronic myeloid leukemia
J Clin Oncol, 29 (5), 524-31
DOI 10.1200/JCO.2010.31.3619, PubMed 21220597

Mamisch TC, Hughes T, Mosher TJ, Mueller C, Trattnig S, Boesch C, Welsch GH (2011)
T2 star relaxation times for assessment of articular cartilage at 3 T: a feasibility study
Skeletal Radiol, 41 (3), 287-92
DOI 10.1007/s00256-011-1171-x, PubMed 21499976

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855

Publications 2010

Launer LJ, Hughes T, Yu B, Masaki K, Petrovitch H, Ross GW, White LR (2010)
Lowering midlife levels of systolic blood pressure as a public health strategy to reduce late-life dementia: perspective from the Honolulu Heart Program/Honolulu Asia Aging Study
Hypertension, 55 (6), 1352-9
DOI 10.1161/HYPERTENSIONAHA.109.147389, PubMed 20404223

Manuel A, Li W, Jellus V, Hughes T, Prasad PV (2010)
Variable flip angle-based fast three-dimensional T1 mapping for delayed gadolinium-enhanced MRI of cartilage of the knee: need for B1 correction
Magn Reson Med, 65 (5), 1377-83
DOI 10.1002/mrm.22720, PubMed 21500264

McAreavey D, Vidal JS, Aspelund T, Owens DS, Hughes T, Garcia M, Sigurdsson S, Bjornsdottir H, Harris TB, Gudnason V, Launer LJ, Plehn JF (2010)
Correlation of echocardiographic findings with cerebral infarction in elderly adults: the AGES-Reykjavik study
Stroke, 41 (10), 2223-8
DOI 10.1161/STROKEAHA.110.590430, PubMed 20798368

White HE, Matejtschuk P, Rigsby P, Gabert J, Lin F, Lynn Wang Y, Branford S, Müller MC, Beaufils N, Beillard E, Colomer D, Dvorakova D, Ehrencrona H, Goh HG, El Housni H, Jones D, Kairisto V, Kamel-Reid S, Kim DW, Langabeer S, Ma ES, Press RD, Romeo G, Wang L, Zoi K et al. (2010)
Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA
Blood, 116 (22), e111-7
DOI 10.1182/blood-2010-06-291641, PubMed 20720184

Publications 2009

Baccarani M, Cortes J, Pane F, Niederwieser D, Saglio G, Apperley J, Cervantes F, Deininger M, Gratwohl A, Guilhot F, Hochhaus A, Horowitz M, Hughes T, Kantarjian H, Larson R, Radich J, Simonsson B, Silver RT, Goldman J, Hehlmann R, European LeukemiaNet (2009)
Chronic myeloid leukemia: an update of concepts and management recommendations of European LeukemiaNet
J Clin Oncol, 27 (35), 6041-51
DOI 10.1200/JCO.2009.25.0779, PubMed 19884523

Blencowe B, Brenner S, Hughes T, Morris Q (2009)
Post-transcriptional gene regulation: RNA-protein interactions, RNA processing, mRNA stability and localization
Pac Symp Biocomput, 545-8
PubMed 19209730

Hughes T, Hochhaus A (2009)
Clinical strategies to achieve an early and successful response to tyrosine kinase inhibitor therapy
Semin Hematol, 46 (2 Suppl 3), S11-5
DOI 10.1053/j.seminhematol.2009.01.008, PubMed 19621544

Hughes T, Saglio G, Branford S, Soverini S, Kim DW, Müller MC, Martinelli G, Cortes J, Beppu L, Gottardi E, Kim D, Erben P, Shou Y, Haque A, Gallagher N, Radich J, Hochhaus A (2009)
Impact of baseline BCR-ABL mutations on response to nilotinib in patients with chronic myeloid leukemia in chronic phase
J Clin Oncol, 27 (25), 4204-10
DOI 10.1200/JCO.2009.21.8230, PubMed 19652056

Kantarjian H, Pasquini R, Lévy V, Jootar S, Holowiecki J, Hamerschlak N, Hughes T, Bleickardt E, Dejardin D, Cortes J, Shah NP (2009)
Dasatinib or high-dose imatinib for chronic-phase chronic myeloid leukemia resistant to imatinib at a dose of 400 to 600 milligrams daily: two-year follow-up of a randomized phase 2 study (START-R)
Cancer, 115 (18), 4136-47
DOI 10.1002/cncr.24504, PubMed 19536906

Park J, Mugler JP, Hughes T (2009)
Reduction of B1 sensitivity in selective single-slab 3D turbo spin echo imaging with very long echo trains
Magn Reson Med, 62 (4), 1060-6
DOI 10.1002/mrm.22070, PubMed 19585600

Sur S, Mamisch TC, Hughes T, Kim YJ (2009)
High resolution fast T1 mapping technique for dGEMRIC
J Magn Reson Imaging, 30 (4), 896-900
DOI 10.1002/jmri.21869, PubMed 19787737

Tojo A, Usuki K, Urabe A, Maeda Y, Kobayashi Y, Jinnai I, Ohyashiki K, Nishimura M, Kawaguchi T, Tanaka H, Miyamura K, Miyazaki Y, Hughes T, Branford S, Okamoto S, Ishikawa J, Okada M, Usui N, Tanii H, Amagasaki T, Natori H, Naoe T (2009)
A Phase I/II study of nilotinib in Japanese patients with imatinib-resistant or -intolerant Ph+ CML or relapsed/refractory Ph+ ALL
Int J Hematol, 89 (5), 679-88
DOI 10.1007/s12185-009-0327-0, PubMed 19449194

Welsch GH, Scheffler K, Mamisch TC, Hughes T, Millington S, Deimling M, Trattnig S (2009)
Rapid estimation of cartilage T2 based on double echo at steady state (DESS) with 3 Tesla
Magn Reson Med, 62 (2), 544-9
DOI 10.1002/mrm.22036, PubMed 19526515

Publications 2008

Branford S, Fletcher L, Cross NC, Müller MC, Hochhaus A, Kim DW, Radich JP, Saglio G, Pane F, Kamel-Reid S, Wang YL, Press RD, Lynch K, Rudzki Z, Goldman JM, Hughes T (2008)
Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials
Blood, 112 (8), 3330-8
DOI 10.1182/blood-2008-04-150680, PubMed 18684859

Giles FJ, DeAngelo DJ, Baccarani M, Deininger M, Guilhot F, Hughes T, Mauro M, Radich J, Ottmann O, Cortes J (2008)
Optimizing outcomes for patients with advanced disease in chronic myelogenous leukemia
Semin Oncol, 35 (1 Suppl 1), S1-17; quiz S18-20
DOI 10.1053/j.seminoncol.2007.12.002, PubMed 18346528

Hughes T, Liberles DA (2008)
The power-law distribution of gene family size is driven by the pseudogenisation rate's heterogeneity between gene families
Gene, 414 (1-2), 85-94
DOI 10.1016/j.gene.2008.02.014, PubMed 18378100

Hughes T, Liberles DA (2008)
Whole-genome duplications in the ancestral vertebrate are detectable in the distribution of gene family sizes of tetrapod species
J Mol Evol, 67 (4), 343-57
DOI 10.1007/s00239-008-9145-x, PubMed 18815825

Lauenstein TC, Sharma P, Hughes T, Heberlein K, Tudorascu D, Martin DR (2008)
Evaluation of optimized inversion-recovery fat-suppression techniques for T2-weighted abdominal MR imaging
J Magn Reson Imaging, 27 (6), 1448-54
DOI 10.1002/jmri.21350, PubMed 18504735

Mamisch TC, Bittersohl B, Hughes T, Kim YJ, Welsch GH, Dudda M, Siebenrock KA, Werlen S, Trattnig S (2008)
Magnetic resonance imaging of the hip at 3 Tesla: clinical value in femoroacetabular impingement of the hip and current concepts
Semin Musculoskelet Radiol, 12 (3), 212-22
DOI 10.1055/s-0028-1083105, PubMed 18850503

Mamisch TC, Dudda M, Hughes T, Burstein D, Kim YJ (2008)
Comparison of delayed gadolinium enhanced MRI of cartilage (dGEMRIC) using inversion recovery and fast T1 mapping sequences
Magn Reson Med, 60 (4), 768-73
DOI 10.1002/mrm.21726, PubMed 18816842

Rutherford JC, Chua G, Hughes T, Cardenas ME, Heitman J (2008)
A Mep2-dependent transcriptional profile links permease function to gene expression during pseudohyphal growth in Saccharomyces cerevisiae
Mol Biol Cell, 19 (7), 3028-39
DOI 10.1091/mbc.e08-01-0033, PubMed 18434596

Shah NP, Kantarjian HM, Kim DW, Réa D, Dorlhiac-Llacer PE, Milone JH, Vela-Ojeda J, Silver RT, Khoury HJ, Charbonnier A, Khoroshko N, Paquette RL, Deininger M, Collins RH, Otero I, Hughes T, Bleickardt E, Strauss L, Francis S, Hochhaus A (2008)
Intermittent target inhibition with dasatinib 100 mg once daily preserves efficacy and improves tolerability in imatinib-resistant and -intolerant chronic-phase chronic myeloid leukemia
J Clin Oncol, 26 (19), 3204-12
DOI 10.1200/JCO.2007.14.9260, PubMed 18541900

Welsch GH, Mamisch TC, Hughes T, Domayer S, Marlovits S, Trattnig S (2008)
Advanced morphological and biochemical magnetic resonance imaging of cartilage repair procedures in the knee joint at 3 Tesla
Semin Musculoskelet Radiol, 12 (3), 196-211
DOI 10.1055/s-0028-1083104, PubMed 18850502

Welsch GH, Mamisch TC, Hughes T, Zilkens C, Quirbach S, Scheffler K, Kraff O, Schweitzer ME, Szomolanyi P, Trattnig S (2008)
In vivo biochemical 7.0 Tesla magnetic resonance: preliminary results of dGEMRIC, zonal T2, and T2* mapping of articular cartilage
Invest Radiol, 43 (9), 619-26
DOI 10.1097/RLI.0b013e31817e9122, PubMed 18708855

Publications 2007

Alexander DD, Waterbor J, Hughes T, Funkhouser E, Grizzle W, Manne U (2007)
African-American and Caucasian disparities in colorectal cancer mortality and survival by data source: an epidemiologic review
Cancer Biomark, 3 (6), 301-13
DOI 10.3233/cbm-2007-3604, PubMed 18048968

Branford S, Hughes T, Milner A, Koelmeyer R, Schwarer A, Arthur C, Filshie R, Moreton S, Lynch K, Taylor K (2007)
Efficacy and safety of imatinib in patients with chronic myeloid leukemia and complete or near-complete cytogenetic response to interferon-alpha
Cancer, 110 (4), 801-8
DOI 10.1002/cncr.22842, PubMed 17607681

Branford S, Seymour JF, Grigg A, Arthur C, Rudzki Z, Lynch K, Hughes T (2007)
BCR-ABL messenger RNA levels continue to decline in patients with chronic phase chronic myeloid leukemia treated with imatinib for more than 5 years and approximately half of all first-line treated patients have stable undetectable BCR-ABL using strict sensitivity criteria
Clin Cancer Res, 13 (23), 7080-5
DOI 10.1158/1078-0432.CCR-07-0844, PubMed 18056186

Hughes T (2007)
Is drug treatment superior to allografting as first-line therapy in chronic myeloid leukemia?
Nat Clin Pract Oncol, 5 (1), 14-5
DOI 10.1038/ncponc0983, PubMed 17940526

Hughes T, Ekman D, Ardawatia H, Elofsson A, Liberles DA (2007)
Evaluating dosage compensation as a cause of duplicate gene retention in Paramecium tetraurelia
Genome Biol, 8 (5), 213
DOI 10.1186/gb-2007-8-5-213, PubMed 17521457

Hughes T, Liberles DA (2007)
The pattern of evolution of smaller-scale gene duplicates in mammalian genomes is more consistent with neo- than subfunctionalisation
J Mol Evol, 65 (5), 574-88
DOI 10.1007/s00239-007-9041-9, PubMed 17957399

Hughes T, Rusten TE (2007)
Origin and evolution of self-consumption: autophagy
Adv Exp Med Biol, 607, 111-8
DOI 10.1007/978-0-387-74021-8_9, PubMed 17977463

Kantarjian H, Pasquini R, Hamerschlak N, Rousselot P, Holowiecki J, Jootar S, Robak T, Khoroshko N, Masszi T, Skotnicki A, Hellmann A, Zaritsky A, Golenkov A, Radich J, Hughes T, Countouriotis A, Shah N (2007)
Dasatinib or high-dose imatinib for chronic-phase chronic myeloid leukemia after failure of first-line imatinib: a randomized phase 2 trial
Blood, 109 (12), 5143-50
DOI 10.1182/blood-2006-11-056028, PubMed 17317857

le Coutre P, Ottmann OG, Giles F, Kim DW, Cortes J, Gattermann N, Apperley JF, Larson RA, Abruzzese E, O'Brien SG, Kuliczkowski K, Hochhaus A, Mahon FX, Saglio G, Gobbi M, Kwong YL, Baccarani M, Hughes T, Martinelli G, Radich JP, Zheng M, Shou Y, Kantarjian H (2007)
Nilotinib (formerly AMN107), a highly selective BCR-ABL tyrosine kinase inhibitor, is active in patients with imatinib-resistant or -intolerant accelerated-phase chronic myelogenous leukemia
Blood, 111 (4), 1834-9
DOI 10.1182/blood-2007-04-083196, PubMed 18048643

White D, Saunders V, Grigg A, Arthur C, Filshie R, Leahy MF, Lynch K, To LB, Hughes T (2007)
Measurement of in vivo BCR-ABL kinase inhibition to monitor imatinib-induced target blockade and predict response in chronic myeloid leukemia
J Clin Oncol, 25 (28), 4445-51
DOI 10.1200/JCO.2006.09.9499, PubMed 17906206

White DL, Saunders VA, Dang P, Engler J, Venables A, Zrim S, Zannettino A, Lynch K, Manley PW, Hughes T (2007)
Most CML patients who have a suboptimal response to imatinib have low OCT-1 activity: higher doses of imatinib may overcome the negative impact of low OCT-1 activity
Blood, 110 (12), 4064-72
DOI 10.1182/blood-2007-06-093617, PubMed 17761829

Zhang J, Harnpicharnchai P, Jakovljevic J, Tang L, Guo Y, Oeffinger M, Rout MP, Hiley SL, Hughes T, Woolford JL (2007)
Assembly factors Rpf2 and Rrs1 recruit 5S rRNA and ribosomal proteins rpL5 and rpL11 into nascent ribosomes
Genes Dev, 21 (20), 2580-92
DOI 10.1101/gad.1569307, PubMed 17938242

Publications 2006

Baccarani M, Saglio G, Goldman J, Hochhaus A, Simonsson B, Appelbaum F, Apperley J, Cervantes F, Cortes J, Deininger M, Gratwohl A, Guilhot F, Horowitz M, Hughes T, Kantarjian H, Larson R, Niederwieser D, Silver R, Hehlmann R, European LeukemiaNet (2006)
Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet
Blood, 108 (6), 1809-20
DOI 10.1182/blood-2006-02-005686, PubMed 16709930

Branford S, Hughes T (2006)
Diagnosis and monitoring of chronic myeloid leukemia by qualitative and quantitative RT-PCR
Methods Mol Med, 125, 69-92
DOI 10.1385/1-59745-017-0:69, PubMed 16502578

Branford S, Hughes T (2006)
Detection of BCR-ABL mutations and resistance to imatinib mesylate
Methods Mol Med, 125, 93-106
DOI 10.1385/1-59745-017-0:93, PubMed 16502579

Druker BJ, Guilhot F, O'Brien SG, Gathmann I, Kantarjian H, Gattermann N, Deininger MW, Silver RT, Goldman JM, Stone RM, Cervantes F, Hochhaus A, Powell BL, Gabrilove JL, Rousselot P, Reiffers J, Cornelissen JJ, Hughes T, Agis H, Fischer T, Verhoef G, Shepherd J, Saglio G, Gratwohl A, Nielsen JL et al. (2006)
Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia
N Engl J Med, 355 (23), 2408-17
DOI 10.1056/NEJMoa062867, PubMed 17151364

Grigg A, Hughes T (2006)
Role of allogeneic stem cell transplantation for adult chronic myeloid leukemia in the imatinib era
Biol Blood Marrow Transplant, 12 (8), 795-807
DOI 10.1016/j.bbmt.2006.03.012, PubMed 16864049

Hughes T (2006)
ABL kinase inhibitor therapy for CML: baseline assessments and response monitoring
Hematology Am Soc Hematol Educ Program, 211-8
DOI 10.1182/asheducation-2006.1.211, PubMed 17124063

Hughes T, Deininger M, Hochhaus A, Branford S, Radich J, Kaeda J, Baccarani M, Cortes J, Cross NC, Druker BJ, Gabert J, Grimwade D, Hehlmann R, Kamel-Reid S, Lipton JH, Longtine J, Martinelli G, Saglio G, Soverini S, Stock W, Goldman JM (2006)
Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results
Blood, 108 (1), 28-37
DOI 10.1182/blood-2006-01-0092, PubMed 16522812

Publications 2005

Hughes T, Branford S (2005)
Molecular monitoring of BCR-ABL as a guide to clinical management in chronic myeloid leukaemia
Blood Rev, 20 (1), 29-41
DOI 10.1016/j.blre.2005.01.008, PubMed 16426942

Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sánchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM (2005)
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
J Biol Chem, 280 (19), 19213-20
DOI 10.1074/jbc.M414421200, PubMed 15701634

White D, Saunders V, Lyons AB, Branford S, Grigg A, To LB, Hughes T (2005)
In vitro sensitivity to imatinib-induced inhibition of ABL kinase activity is predictive of molecular response in patients with de novo CML
Blood, 106 (7), 2520-6
DOI 10.1182/blood-2005-03-1103, PubMed 15956284

Publications 2004

Faderl S, Hochhaus A, Hughes T (2004)
Monitoring of minimal residual disease in chronic myeloid leukemia
Hematol Oncol Clin North Am, 18 (3), 657-70, ix-x
DOI 10.1016/j.hoc.2004.03.010, PubMed 15271398

Hochhaus A, Hughes T (2004)
Clinical resistance to imatinib: mechanisms and implications
Hematol Oncol Clin North Am, 18 (3), 641-56, ix
DOI 10.1016/j.hoc.2004.03.001, PubMed 15271397

Hughes T, Hyun Y, Liberles DA (2004)
Visualising very large phylogenetic trees in three dimensional hyperbolic space
BMC Bioinformatics, 5, 48
DOI 10.1186/1471-2105-5-48, PubMed 15117420

Mullighan C, Heatley S, Doherty K, Szabo F, Grigg A, Hughes T, Schwarer A, Szer J, Tait B, To B, Bardy P (2004)
Non-HLA immunogenetic polymorphisms and the risk of complications after allogeneic hemopoietic stem-cell transplantation
Transplantation, 77 (4), 587-96
DOI 10.1097/01.tp.0000111769.45088.a2, PubMed 15084940

Publications 2003

Bader GD, Heilbut A, Andrews B, Tyers M, Hughes T, Boone C (2003)
Functional genomics and proteomics: charting a multidimensional map of the yeast cell
Trends Cell Biol, 13 (7), 344-56
DOI 10.1016/s0962-8924(03)00127-2, PubMed 12837605

Nedea E, He X, Kim M, Pootoolal J, Zhong G, Canadien V, Hughes T, Buratowski S, Moore CL, Greenblatt J (2003)
Organization and function of APT, a subcomplex of the yeast cleavage and polyadenylation factor involved in the formation of mRNA and small nucleolar RNA 3'-ends
J Biol Chem, 278 (35), 33000-10
DOI 10.1074/jbc.M304454200, PubMed 12819204

O'Brien SG, Guilhot F, Larson RA, Gathmann I, Baccarani M, Cervantes F, Cornelissen JJ, Fischer T, Hochhaus A, Hughes T, Lechner K, Nielsen JL, Rousselot P, Reiffers J, Saglio G, Shepherd J, Simonsson B, Gratwohl A, Goldman JM, Kantarjian H, Taylor K, Verhoef G, Bolton AE, Capdeville R, Druker BJ et al. (2003)
Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia
N Engl J Med, 348 (11), 994-1004
DOI 10.1056/NEJMoa022457, PubMed 12637609

Roth C, Hughes T (2003)
From microarrays to genome duplications
Genome Biol, 4 (8), 332
DOI 10.1186/gb-2003-4-8-332, PubMed 12914655

Publications 2002

Borg M, Hughes T, Horvath N, Rice M, Thomas AC (2002)
Renal toxicity after total body irradiation
Int J Radiat Oncol Biol Phys, 54 (4), 1165-73
DOI 10.1016/s0360-3016(02)03039-0, PubMed 12419445

Publications 1992

Crichton P, Douzenis A, Leggatt C, Hughes T, Lewis S (1992)
Are psychiatric case-notes offensive?
Psychiatr Bull R Coll Psychiatr, 16 (11), 675-7
DOI 10.1192/pb.16.11.675, PubMed 11659954

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