Our publications

2024

Hare L, Trotman J, Tarpey P, Hook E, Burke GAA. Challenging our understanding of B-cell lymphomagenesis and risk: Paediatric high-grade B-cell lymphoma, not otherwise specified with a DDX3X::MLLT10 fusion and an IGH deletion. Pediatr Blood Cancer. 2024; 71:e30810. https://doi.org/10.1002/pbc.30810 (opens in a new tab)

2023

Chadda, K. R., Solano-Páez, P., Khan, S., Llempén-López, M., Phyu, P., Horan, G., Trotman, J., Tarpey, P., Erker, C., Lindsay, H., Addy, D., Jacques, T. S., Allinson, K., Pizer, B., Huang, A., & Murray, M. J. (2023). Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy. Neuro-oncology advances, 5(1), vdad052. https://doi.org/10.1093/noajnl/vdad052 (opens in a new tab)

Green, R., Ahmed, A., Fleming, B., Long, A. M., Behjati, S., Trotman, J., Tarpey, P., Nicholson, J. C., Coleman, N., Elizabeth Hook, C., & Murray, M. J. (2023). Wilms Tumor With Raised Serum Alpha-Fetoprotein: Highlighting the Need for Novel Circulating Biomarkers. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 10935266231213467. Advance online publication. https://doi.org/10.1177/10935266231213467 (opens in a new tab)

Watkins, J. A., Hatcher, H., Malhotra, S., Amen, F., Bruty, J., Trotman, J., Tarpey, P., & Tadross, J. A. (2023). Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm. Head and neck pathology, 10.1007/s12105-023-01526-0. Advance online publication. https://doi.org/10.1007/s12105-023-01526-0 (opens in a new tab)

Mavaddat, N., Ficorella, L., Carver, T., Lee, A., Cunningham, A. P., Lush, M., Dennis, J., Tischkowitz, M., Downes, K., Hu, D., Hahnen, E., Schmutzler, R. K., Stockley, T. L., Downs, G. S., Zhang, T., Chiarelli, A. M., Bojesen, S. E., Liu, C., Chung, W. K., Pardo, M., … Easton, D. F. (2023). Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, EPI-22-0756. Advance online publication. https://doi.org/10.1158/1055-9965.EPI-22-0756 (opens in a new tab)

De Noon, S., Piggott, R., Trotman, J., Tadross, J. A., Fittall, M., Hughes, D., Ye, H., Munasinghe, E., Murray, M., Tirabosco, R., Amary, F., Coleman, N., Watkins, J., Hubank, M., Tarpey, P., Behjati, S., & Flanagan, A. M. (2023). Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma. The Journal of pathology, 259(2), 119–124. https://doi.org/10.1002/path.6038 (opens in a new tab)

2022

Ellingford, J. M., Ahn, J. W., Bagnall, R. D., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D. R., Greally, J. M., Ingles, J., Krishnan, N., Lord, J., Martin, H. C., Newman, W. G., O'Donnell-Luria, A., Ramsden, S. C., Rehm, H. L., Richardson, E., … Whiffin, N. (2022). Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome medicine, 14(1), 73.

Archer, S., Fennell, N., Colvin, E., Laquindanum, R., Mills, M., Dennis, R., Stutzin Donoso, F., Gold, R., Fan, A., Downes, K., Ford, J., Antoniou, A. C., Kurian, A. W., Evans, D. G., & Tischkowitz, M. (2022). Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial. Cancers, 14(11), 2716.

Briggs, M., Das, A., Firth, H., Levine, A., Sánchez-Ramírez, S., Negm, L., Ercan, A. B., Chung, J., Bianchi, V., Jalloh, I., Phyu, P., Thorp, N., Grundy, R. G., Hawkins, C., Trotman, J., Tarpey, P., Tabori, U., Allinson, K., Murray, M. J., & Genomics England Research Consortium (2022). Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD). Neuropathology and applied neurobiology, e12862. Advance online publication.https://doi.org/10.1111/nan.12862 (opens in a new tab)

Zhao, Y., Gardner, E. J., Tuke, M. A., Zhang, H., Pietzner, M., Koprulu, M., Jia, R. Y., Ruth, K. S., Wood, A. R., Beaumont, R. N., Tyrrell, J., Jones, S. E., Lango Allen, H., Day, F. R., Langenberg, C., Frayling, T. M., Weedon, M. N., Perry, J., Ong, K. K., & Murray, A. (2022). Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. Genetics in medicine : official journal of the American College of Medical Genetics, S1098-3600(22)00777-8. Advance online publication. https://doi.org/10.1016/j.gim.2022.05.011 (opens in a new tab)

French, C. E., Dolling, H., Mégy, K., Sanchis-Juan, A., Kumar, A., Delon, I., Wakeling, M., Mallin, L., Agrawal, S., Austin, T., Walston, F., Park, S. M., Parker, A., Piyasena, C., Bradbury, K., Next Generation Children’s Project Consortium, Ellard, S., Rowitch, D. H., & Raymond, F. L. (2022). Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. HGG advances, 3(3), 100113. https://doi.org/10.1016/j.xhgg.2022.100113 (opens in a new tab)

Trotman, J., Armstrong, R., Firth, H. Firth, H., Trayers, C., Watkins, J., Allinson, K., Jacques, T.S., Nicholson, J.C., Burke, G.A.A., Genomics England Research Consortium, Behjati, S., Murray, M.J., Hook, C.E., Tarpey, P. The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer. Br J Cancer (2022). https://doi.org/10.1038/s41416-022-01788-5 (opens in a new tab)

Sagi, S. V., Joshi, H., Trotman, J., Elsey, T., Swamy, A., Rajkanna, J., Bhat, N. A., Haddadin, F., Oyibo, S. O., & Park, S. M. (2020). A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism. Endocrinology, diabetes & metabolism case reports, 2020, 20-0084. Advance online publication. https://doi.org/10.1530/EDM-20-0084 (opens in a new tab)

Truelove, A., Mulay, A., Prapa, M., Casey, R. T., Adler, A. I., Offiah, A. C., Poole, K., Trotman, J., Al Hasso, N., & Park, S. M. (2019). Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. American journal of medical genetics. Part A, 179(7), 1330–1337. https://doi.org/10.1002/ajmg.a.61163 (opens in a new tab)

Garrett, A., Loveday, C., King, L., Butler, S., Robinson, R., Horton, C., Yussuf, A., Choi, S., Torr, B., Durkie, M., Burghel, G. J., Drummond, J., Berry, I., Wallace, A., Callaway, A., Eccles, D., Tischkowitz, M., Tatton-Brown, K., Snape, K., McVeigh, T., … Cancer Variant Interpretation Group UK (CanVIG-UK) (2022). Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genetics in medicine : official journal of the American College of Medical Genetics, 24(1), 41–50. https://doi.org/10.1016/j.gim.2021.08.004 (opens in a new tab)

MMR: CanVIG-UK Gene-Specific Guidance. Date: 05/01/2022 Version: 1.4. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , E. Woodward, G. Evans, H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/gene-specific-recommendations)

2021

Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C. (2021) Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. Genetics in Medicine, 24(3), 552-563 https://doi.org/10.1016/j.gim.2021.11.011 (opens in a new tab)

BRCA1/BRCA2: CanVIG-UK Gene-Specific guidance. Date: 02/12/2021 Version: 1.14. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , S. Ellard , E Baple , H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/gene-specific-recommendations (opens in a new tab))

CanVIG-UK Consensus Specification for Cancer Susceptibility Genes (CSGs) of ACGS Best Practice Guidelines for Variant Classification. Date: 06/08/2021 Version: 2.14. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , S. Ellard , E Baple , H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/canvig-uk-guidance)

Garrett, A., Durkie, M., Callaway, A., Burghel, G. J., Robinson, R., Drummond, J., Torr, B., Cubuk, C., Berry, I. R., Wallace, A. J., Ellard, S., Eccles, D. M., Tischkowitz, M., Hanson, H., Turnbull, C., & CanVIG-UK (2021). Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. Journal of medical genetics, 58(5), 297–304. https://doi.org/10.1136/jmedgenet-2020-107248 (opens in a new tab)

Hirayama, Y., Daniels, N. F., Evans, S., Clarke, D., Purvis, S., Oliver, C., Woodmansey, S., Staniforth, J., & Soilleux, E. J. (2021). High Prevalence of Pre-Existing Liver Abnormalities Identified Via Autopsies in COVID-19: Identification of a New Silent Risk Factor?. Diagnostics (Basel, Switzerland), 11(9), 1703. https://doi.org/10.3390/diagnostics11091703 (opens in a new tab)

Mensah, N. E., Sabir, A. H., Bond, A., Roworth, W., Irving, M., Davies, A. C., & Ahn, J. W. (2021). Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics, S1098-3600(21)05401-0. Advance online publication. https://doi.org/10.1016/j.gim.2021.11.021 (opens in a new tab)

Attygalle AD, Wren D, Dobson R, Vroobel KM, Sharma B, O’Connor S, Wotherspoon AC, Du MQ, Cunningham D, (2021). Lymphomatoid papulosis mimicking relapsed angioimmunoblastic T-cell lymphoma on histology: the importance of clinicopathologic correlation. Histopathology;78(3):470-473. https://doi.org/10.1111/his.14287 (opens in a new tab). Epub 2020 Dec 8. PMID: 33098681

Chadda KR, Holland K, Scoffings D, Dean A, Pickles JC, Behjati S, Jacques TS, Trotman J, Tarpey P, Allinson K, Murray MJ; Genomics England Research Consortium, (2021). A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. Neuropathol Appl Neurobiol. 2021 Feb 3 https://doi.org/10.1111/nan.12701 (opens in a new tab). Epub ahead of print. PMID: 33534137

Dobson R, Du PY, Rásó-Barnett L, Yao WQ, Chen Zi, Casa C, EI-Daly H, Farkas L, Soilleux E, Wright P, Grant JW, Rodriguez-Justo M, Follows GA, Rashed H, Wotherspoon A, Attygalle AD, Liu H, Du MQ, (2021). Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis. Haematologica 2021 Feb 11 https://doi.org/10.3324/haematol.2020.265991 (opens in a new tab). Online ahead of print. PMID: 33567811

Gong C, Krupka JA, Gao J, Grigoropoulos NF, Screen M, Usheva Z, Cucco F, Mohammed M, Bornelöv S, De Los Mozos IR, Meng W, Bain A, Burke GA, Forde S, Matthews J, Beer P, Cooke S, Burton C, Campbell P, Roman E, Turner S, Ule J, Rand V, Oellerich T, Tooze R, Turner M, Du MQ, Samarajiwa S & Hodson DJ, (2021). DDX3X and DDX3Y co-operate to facilitate MYC-driven B cell lymphomas. Mol Cell, S1097-2765(21)00625-0. https://doi.org/10.1016/j.molcel.2021.07.041 (opens in a new tab). Online ahead of print. PMID: 34437837

Kiesewetter B, Copie-Bergman C, Levy M, Wu F, Dupuis J, Barau C, Arcaini L, Paulli M, Lucioni M, Bonometti A, Salar A, Fernández-Rodriguez C, Piris MA, Cucco F, Dobson R, Li Y, Chen Z, Robe C, Simonitsch-Klupp I, Wotherspoon AC, Raderer M, Du MQ, (2021). Genetic characterization and clinical features of Helicobacter pylori negative gastric mucosa-associated lymphoid tissue lymphoma. Cancers 13(12):2993. https://doi.org/10.3390/cancers13122993 (opens in a new tab). PMID: 34203889

Korona B, Korona D, Wotherspoon AC, Du MQ, (2021). GPR34 activation bridges lymphoepithelial lesion to genesis of salivary gland MALT lymphoma. Blood. 2021 Jun 4. https://doi.org/10.1182/blood.2020010495 (opens in a new tab). Online ahead of print. PMID: 34086889

Olszewska DA, Fearon C, McGuigan C, McVeigh TP, Houlden H, Polke JM, Lawlor B, Coen R, Hutchinson M, Hutton M, Beausang A, Delon I, Brett F, Sevastou I, Seto-Salvia N, de Silva R, Lynch T, (2021). A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene. Neurobiol Aging, S0197-4580(21)00171-8. doi: 10.1016/j.neurobiolaging.2021.05.010. Epub ahead of print. PMID: 34274155

Wu F, Watanabe N, Tzioni MM, Li Y, Chen Z, Cucco F, Zhang C, Noh JY, Ito K, Dobson R, Moody S, Yao W, Zhang (opens in a new tab) W, Liu W, Liu H, Okosun J, Chott A, Bi Y, Chuang SS, Raderer M, Li JY, Du MQ, (2021). Thyroid MALT lymphoma: self-harm to gain T-cell help. Leukemia. 2021 May 21. https://doi.org/10.1038/s41375-021-01289-z (opens in a new tab). Online ahead of print. PMID: 34021249

Zhao Y, Stankovic S, Koprulu M, Wheeler E, Day FR, Lango Allen H, Kerrison ND, Pietzner M, Loh PR, Wareham NJ, Langenberg C, Ong KK, Perry J, (2021). GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. Nature communications, 12(1), 4178. https://doi.org/10.1038/s41467-021-24504-y (opens in a new tab). PMID: 34234147

2020

Farmer, G. D., Gray, H., Chandratillake, G., Raymond, F. L., & Freeman, A. (2020). Recommendations for designing genetic test reports to be understood by patients and non-specialists. European journal of human genetics : EJHG, 28(7), 885–895. https://doi.org/10.1038/s41431-020-0579-y (opens in a new tab)

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. PMID: 32170000

Recchia, G., Chiappi, A., Chandratillake, G., Raymond, L., & Freeman, A. (2020). Creating genetic reports that are understood by nonspecialists: a case study. Genetics in medicine : official journal of the American College of Medical Genetics, 22(2), 353–361. https://doi.org/10.1038/s41436-019-0649-0 (opens in a new tab)

Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ; NIHR BioResource, Bentley DR, Butchbach MER, Raymond FL, Eberle MA, (2020). Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med,22(5):945-953. https://doi.org/10.1038/s41436-020-0754-0 (opens in a new tab). Epub 2020 Feb 18. PMID: 32066871; PMCID: PMC7200598.

Cucco F, Barrans S, Sha C, Clipson A, Crouch S, Dobson R, Chen Z, Thompson JS, Care MA, Cummin T, Caddy J, Liu H, Robinson A, Schuh A, Fitzgibbon J, Painter D, Smith A, Roman E, Tooze R, Burton C, Davies AJ, Westhead DR, Johnson PWM, Du MQ, (2020). Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit. Leukemia, 34(5):1329-1341. https://doi.org/10.1038/s41375-019-0691-6 (opens in a new tab). Epub 2019 Dec 16. PMID: 31844144

Gutowska-Ding MW, Deans ZC, Roos C, Matilainen J, Khawaja F, Brügger K, Ahn JW, Boustred C, Patton SJ, (2020). One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants. Eur J Hum Genet, 28(2):202-212. https://doi.org/10.1038/s41431-019-0515-1 (opens in a new tab). Epub 2019 Sep 30. PMID: 31570784; PMCID: PMC6974611

Jia T, Munson B, Lang Allen H, Ideker T, Majithia AR, (2020). Thousands of missing variants in the UK Biobank are recoverable by genome realignment. Annals of human genetics, 84(3), 214–220. https://doi.org/10.1111/ahg.12383 (opens in a new tab). PMID: 32232836

Sakka SD, Mann K, Lachlan K, Davies JH, Bateman M, Holder-Espinasse M, Arya VB, (2020). Haematological chimerism masquerading as disorder of sex development. (opens in a new tab) Clin Endocrinol (Oxf). 92(5):487-489. https://doi.org/10.1111/cen.14160 (opens in a new tab). PMID: 31943282

Thaventhiran J, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery J, Simeoni I, Rivers E, Maimaris, J, Penkett CJ, Stephens J, Deevi S, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, … Smith K, (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583(7814), 90–95. https://doi.org/10.1038/s41586-020-2265-1 (opens in a new tab). PMID: 32499645

Togneri FS, Allen SK, Mann K, Holgado E, Morgan S, (2020). Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit. (opens in a new tab) Genet Res (Camb). 102:e7. http://dx.doi.org/10.1017/S0016672320000087 (opens in a new tab). PMID: 32867862

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Lango Allen H, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi S, Aitman TJ, Bennett DL, Calleja P, … Ouwehand WH, (2020). Whole-genome sequencing of patients with rare diseases in a national health system. Nature, 583(7814), 96–102. https://doi.org/10.1038/s41586-020-2434-2 (opens in a new tab). PMID: 32499645

van Campen J, Silcock L, Yau S, Daniel Y, Ahn JW, Ogilvie C, Mann K, Oteng-Ntim E, (2020). A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies. (opens in a new tab) Br J Haematol. 190(1):119-124. https://doi.org/10.1111/bjh.16529 (opens in a new tab). PMID: 32097993

Yao WQ, Wu F, Zhang W, Chuang SS, Thompson JS, Chen Z, Zhang SW, Clipson A, Wang M, Liu H, Bibawi H, Huang Y, Campos L, Grant JW, Wright P, EI-Daly H, Rásó-Barnett L, Farkas L, Follows GA, Gao Z, Attygalle AD, Ashton-Key M, Liu W, Du MQ, (2020). Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell. Journal of Pathology, 250(3):346-357. https://doi.org/10.1002/path.5376 (opens in a new tab). Epub 2020 Jan 16. PMID: 31859368

Reviews

Du MQ, (2020). MALT lymphoma of various sites: common molecular mechanisms but different players. Annals of Lymphoma

2019

Araf S, Wang J, Ashton-Key M, Korfi K, Di Bella D, Rio-Machin A, Odabashian M, Foria V, Du MQ, Cucco F, Barrans S, Johnson P, Laird SR, Fisher AM, Cullis JO, Graham TA, Okosun J, Fitzgibbon J, Chiecchio L, (2019). Transmission of diffuse large B cell lymphoma by an allogeneic stem-cell transplant. (opens in a new tab) Haematologica, 104(4):e174-e177. https://doi.org/10.3324/haematol.2018.196907. Epub 2018 Jul 5 (opens in a new tab). PMID: 29976740

Caeser R, Collord G, Yao WQ, Vassiliou G, Beer P, Du MQ, Scott M, Follows G, Hodson D, (2019). Targeting MEK in vemurafenib-resistant hairy cell leukemia. Leukemia, 33(2):541-545. https://doi.org/10.1038/s41375-018-0270-2 (opens in a new tab). Epub 2018 Oct 19. PMID: 30341394

Davies A, Cummin T, Barrans S, Maishman T, Mamot C, Novak U, Caddy J, Kazmi-Stokes S, McMillan A, Fields P, Pocock C, Collins G, Cucco F, Sha C, Tooze R, Care M, Griffiths G, Du MQ, Westhead D, Burton C, Johnson P, (2019). Gene expression profiling in an open-label randomised, phase 3 trial (REMoDL-B) of bortezomib added to standard chemoimmunotherapy for diffuse large B-cell lymphoma. Lancet Oncology, 20(5):649-662. https://doi.org/10.1016/S1470-2045(18)30935-5 (opens in a new tab). Epub 2019 Apr 1. PMID: 30948276

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL, (2019). Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med, 45(5):627-636. https://doi.org/10.1007/s00134-019-05552-x (opens in a new tab). Epub 2019 Mar 7. PMID: 30847515; PMCID: PMC6483967

Mann K, Petek E, Pertl B, (2019). Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR. (opens in a new tab) Methods Mol Biol. 1885:139-160. https://doi.org/10.1007/978-1-4939-8889-1_10 (opens in a new tab). PMID: 3050619

Paterson AL, El-Daly H, Raso-Barnett L, Du MQ, Giger O, Soilleux E, Roberts T, Huang Y, Bibawi H, Matharu B, Bench A, Scott M, Liu H, (2019). Contribution of immunoglobulin lambda light chain gene rearrangement analysis in the diagnosis of B-cell neoplasms. British Journal of Haematology, 185(2) :261-265. https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15762 (opens in a new tab). Epub 2019 Jan 25. PMID: 30681735

Sha C*, Barrans S*, Cucco F*, Bentley MA, Care MA, Cummin T, Kennedy H, Thompson JS, Uddin R, Worrillow L, Chalkley R, van Hoppe M, Ahmed S, Maishman T, Caddy J, Schuh A, Marmot C, Burton C, Tooze R, Davies A, Du MQ**, Johnson PWM**, Westhead DR**, (2019). Molecular definition of high grade B cell lymphoma: a centroblast-like group with potential for more effective therapy. Journal of Clinical Oncology, 37(3):202-212. https://ascopubs.org/doi/10.1200/JCO.18.01314 (opens in a new tab). Epub 2018 Dec 3. PMID: 30523719 * Equal first author; **Equal senior author. (Accompanied by editorial comments).

Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K, Hastings R, (2019). European guidelines for constitutional cytogenomic analysis. (opens in a new tab) Eur J Hum Genet. 27(1):1-16. https://doi.org/10.1038/s41431-018-0244-x (opens in a new tab). PMID: 30275486

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 W, Stephens J, … Thaventhiran J, (2019). Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. The Journal of experimental medicine, 216(9), 1986–1998. https://doi.org/10.1084/jem.20190344 (opens in a new tab). PMID: 31235509

Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C, (2019). UK Association for Clinical Genomic Science and UK Cancer Genetics Group. Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs). J Med Genet. 56(11):718-726. http://dx.doi.org/10.1136/jmedgenet-2018-105820 (opens in a new tab). Epub 2019 Apr 24. PMID: 31018999

Tuijnenburg P, Lango Allen H, de Bree GJ, Savic S, Jansen MH, Stockdale C, Simeoni I, Ten Berge I, van Leeuwen E; NIHR BioResource, Thaventhiran JE, Kuijpers TW, (2019). Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. Clinical immunology (Orlando, Fla.), 203, 23–27. https://doi.org/10.1016/j.clim.2019.03.010 (opens in a new tab). PMID: 30953794

Xochelli A, Bikos V, Polychronidou E, Galigalidouc, Agathangelidis A, Charlotte F, Moschonas P, Davis Z, Colombo M, Roumelioti M, Sutton LA, Groenen P, Boudjoghra M, Algara P, Traverse-Glehen A, Ferrer A, Stalika E, Karypidou M, Kanellis G, Kalpadakis C, Mollejo M, Pangalis G, Vlamos P, Amini RM, Pospisilova S, Gonzalez D, Ponzoni M, Anagnostopoulos A, Giudicelli V, Lefranc MP, Espinet B, Panagiotidis P, Piris MA, Du MQ, Rosenquist R, Papadaki T, Belessi C, Ferrarini M, Oscier D, Tzovaras D, Ghia P, Davi F, Hadzidimitriou A, Stamatopoulos K, (2019). Disease-biased immunoglobulin gene repertoires and public antigen receptor stereotypes in marginal zone B cell lymphoproliferations. Journal of Pathology, 247(4) 416-421. https://doi.org/10.1002/path.5209 (opens in a new tab). Epub 2019 Jan 30. PMID: 30484876

2018

Chelaghma, N., Rajkanna, J., Trotman, J., Fuller, G., Elsey, T., Park, S. M., & Oyibo, S. O. (2018). Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation. Endocrinology, diabetes & metabolism case reports, 2018, 18-0028. https://doi.org/10.1530/EDM-18-0028 (opens in a new tab)

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW, (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet,103(4):592-601. https://doi.org/10.1016/j.ajhg.2018.08.013 (opens in a new tab). Epub 2018 Sep 20. PMID: 30245030; PMCID: PMC6174280

Cummin TE, Du MQ, Johnson P, (2018). Letter to the editor, N Engl J Med, 379(5):493. https://www.nejm.org/doi/10.1056/NEJMc1806191 (opens in a new tab). PMID: 30070099

Cucco F,* Clipson A,* Kennedy H, Thompson JS, Wang M, Barrans S, van Hoppe M, Ochoa Ruiz E, Caddy J, Hamid D, Cummin T, Burton C, Davies AJ, Johnson P, Du MQ, (2018). Mutation Screening Using Formalin-Fixed Paraffin-Embedded Tissues: A Stratified Approach According to DNA Quality. Laboratory Investigation, 98:1084-1092. https://doi.org/10.1038/s41374-018-0066-z (opens in a new tab). Epub 2018 May 16. PMID: 29769698

Deng W, Clipson A, Liu H, Huang Y, Dobson R, Wang M, Johnson P, Du MQ, (2018). Variable Responses of MYC Translocation Positive Lymphoma Cell Lines To Different Combinations of Novel Agents: Impact of BCL2 Family Protein Expression. Translational Oncology 11(5):1147-1154. https://doi.org/10.1016/j.tranon.2018.07.007 (opens in a new tab). Epub 2018 Jul 25. PMID: 30055346

Moody S, Thompson JS, Chuang SS, Liu H, Raderer M, Vassiliou G, Wlodarska I, Wu F, Cogliatti S, Robson A, Ashton-Key M, Bi Y, Goodlad J, Du MQ, (2018). Novel GPR34 and CCR6 mutation, and distinct genetic profiles in MALT lymphomas of different sites. Haematologica, 103 (8): 1329-1336. https://doi.org/10.3324/haematol.2018.191601. Epub 2018 Apr 19 (opens in a new tab). PMID: 29674500 (Accompanied by editorial comments).

Reviews

Du MQ. (2018). Deregulation of cellular signaling in marginal zone lymphoma. HemaSphere.

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