Our publications

Steuernagel L, Lam BYH, Klemm P, Dowsett GKC, Bauder CA, Tadross JA, Hitschfeld TS, Del Rio Martin A, Chen W, de Solis AJ, Fenselau H, Davidsen P, Cimino I, Kohnke SN, Rimmington D, Coll AP, Beyer A, Yeo GSH, Brüning JC. HypoMap-a unified single-cell gene expression atlas of the murine hypothalamus. Nat Metab. 2022 Oct;4(10):1402-1419. doi: 10.1038/s42255-022-00657-y (opens in a new tab).

Wong-Spracklen VMY, Kolesnik A, Eck J, Sabanathan S, Spasic-Boskovic O, Maw A, Baker K. Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay. Am J Med Genet A. 2022 Nov;188(11):3306-3311. doi: 10.1002/ajmg.a.62960 (opens in a new tab).

Kuijpers TW, de Vries ACH, van Leeuwen EM, Ermens ATAM, de Pont S, Smith DEC, Wamelink MMC, Mensenkamp AR, Nelen MR, Lango Allen H, Pals ST, Beverloo BHB, Huidekoper HH, Wagner A. Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene. Blood Adv. 2022 Nov 22;6(22):5829-5834. doi: 10.1182/bloodadvances.2022007233 (opens in a new tab).

Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3 (opens in a new tab).

Recchia, G., Lawrence, A. C. E., Capacchione, L., & Freeman, A. L. J. (2022). Making BRCA1 genetic test reports easier to understand through user-centered design: A randomized trial. Genetics in medicine : official journal of the American College of Medical Genetics, 24(8), 1684–1696. https://doi.org/10.1016/j.gim.2022.04.016 (opens in a new tab)

Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. Sci Immunol. 2022 Aug 12;7(74):eabn3800. doi: 10.1126/sciimmunol.abn3800 (opens in a new tab).

Zhou Y, Shalhoub R, Rogers SN, Yu S, Gu M, Fabre MA, Quiros PM, Shin TH, Diangson A, Deng W, Anand S, Lu W, Cullen M, Godfrey AL, Preller J, Hadjadj J, Jouanguy E, Cobat A, Abel L, Rieux-Laucat F, Terrier B, Fischer A, Novik L, Gordon IJ, Strom L, Gaudinski MR, Lisco A, Sereti I, Gniadek TJ, Biondi A, Bonfanti P, Imberti L, Dalgard CL, Zhang Y, Dobbs K, Su HC, Notarangelo LD, Wu CO, Openshaw PJM, Semple MG, Mallat Z, Baillie K, Dunbar CE, Vassiliou GS. Clonal hematopoiesis is not significantly associated with COVID-19 disease severity. Blood. 2022 Oct 6;140(14):1650-1655. doi: 10.1182/blood.2022015721 (opens in a new tab).

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. https://doi.org/10.3390/cancers14112716 (opens in a new tab).

Patel SA, Hirosue S, Rodrigues P, Vojtasova E, Richardson EK, Ge J, Syafruddin SE, Speed A, Papachristou EK, Baker D, Clarke D, Purvis S, Wesolowski L, Dyas A, Castillon L, Caraffini V, Bihary D, Yong C, Harrison DJ, Stewart GD, Machiela MJ, Purdue MP, Chanock SJ, Warren AY, Samarajiwa SA, Carroll JS, Vanharanta S. The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer. Nature. 2022 Jun;606(7916):999-1006. doi: 10.1038/s41586-022-04809-8 (opens in a new tab).

Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK. Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). Genet Med. 2022 Sep;24(9):1867-1877. doi: 10.1016/j.gim.2022.05.002 (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)

Heubel-Moenen FCJI, Brouns SLN, Herfs L, Boerenkamp LS, Jooss NJ, Wetzels RJH, Verhezen PWM, Machiels P, Megy K, Downes K, Heemskerk JWM, Beckers EAM, Henskens YMC. Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time. Br J Haematol. 2022 Mar;196(6):1388-1400. doi: 10.1111/bjh.18003 (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)

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)

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; CanVIG-UK. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011 (opens in a new tab).

Van Laer C, Peerlinck K, Jacquemin M, Thys C, Downes K, Labarque V, Freson K. F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis. Thromb Haemost. 2022 Jun;122(6):1058-1060. doi: 10.1055/s-0041-1739363 (opens in a new tab).

Almazni I, Chudakou P, Dawson-Meadows A, Downes K, Freson K, Mason J, Page P, Reay K, Myers B, Morgan NV; UK GAPP Study Group. A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. Platelets. 2022 Feb 17;33(2):320-323. doi: 10.1080/09537104.2021.1887470 (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) (opens in a new tab)

Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes. Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z (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

Downes K, Borry P, Ericson K, Gomez K, Greinacher A, Lambert M, Leinoe E, Noris P, Van Geet C, Freson K; Subcommittee on Genomics in Thrombosis, Hemostasis. Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost. 2020 Oct;18(10):2751-2758. doi: 10.1111/jth.14993 (opens in a new tab).

Buyse G, Di Michele M, Wijgaerts A, Louwette S, Wittevrongel C, Thys C, Downes K, Ceulemans B, Van Esch H, Van Geet C, Freson K. Unravelling the disease mechanism for TSPYL1 deficiency. Hum Mol Genet. 2020 Dec 18;29(20):3431-3442. doi: 10.1093/hmg/ddaa233 (opens in a new tab).

Nicholas Gleadall, Barbera Veldhuisen, Jeremy Gollub, Adam Butterworth, John Ord, Christopher Penkett, Tiffany Timmer, Carolin Sauer, Nieke van der Bolt, Colin Brown, Kim Brugger, Alexander Dilthey, Daniel Duarte, Shane Grimsley, Katja van den Hurk, John Jongerius, Jessie Luken, Karyn Megy, Gail Miflin, Christopher Nelson, Femmeke Prinsze, Jennifer Sambrook, Ilenia Simeoni, Michael Sweeting, Nicole Thornton, Sara Trompeter, Matthew Walker, Salih Tuna, Ram Varma, John Danesh, David Roberts, Willem H. Ouwehand, Kathleen E. Stirrups, Augusto Rendon, Connie Westhoff, Emanuele Di Angelantonio, C. van der Schoot, William Astle, Nicholas Watkins, William Lane. Development and validation of a universal blood donor genotyping platform: a multinational, prospective study. Blood Adv. 2020 Aug 11;4(15):3495-3506. doi: 10.1182/bloodadvances.2020001894.PMID: 32750130

Claire L Shovlin, Ilenia Simeoni, Kate Downes, Zoe Frazer, Karyn Megy, Maria Bernabeu Herrero, Jennifer Brimley, Dilip Patel, Loren Kell, Isobel Turbin, Micheala Aldred, Chrish Penkett, Kathy Stirrups, NIHR BioResource, Willem H Ouwehand, Luca Jovine and Ernest Turro. Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia. Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.PMID: 32573726.

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 RJ, 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 AP, 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. Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6.PMID: 32499645.

Staples E, Simeoni I, Stephens JC, Allen HL; NIHR-BioResource, Wright P, Davies EG, Javid B, Gkrania-Klotsas E, Gattens M, Firth H, Shamardina O, Deevi SVV, Prapa M, Uttenthal B, Kumararatne D, Thaventhiran JED. ADA2 deficiency complicated by EBV-driven lymphoproliferative disease. Clin Immunol., 2020 Apr 27:108443. doi: 10.1016/j.clim.2020.108443. PMID: 32353633.

Loredana Bury, Karyn Megy, Jonathan C Stephens, Luigi Grassi, Daniel Greene, Nick Gleadall, Karina Althaus , David Allsup, Tadbir K Bariana, Mariana Bonduel, Nora V Butta, Peter Collins, Nicola Curry, Sri VV Deevi, Kate Downes, Daniel Duarte, Kim Elliott, Emanuela Falcinelli PhD1, Bruce Furie, David Keeling, Michele P Lambert, Rachel Linger, Sarah Mangles, Rutendo Mapeta, Carolyn M Millar, Christopher Penkett, David J Perry, Kathleen E Stirrups, Ernest Turro , Sarah K Westbury, John Wu, NIHR BioResource, Keith Gomez, Kathleen Freson, Willem H Ouwehand, *Paolo Gresele, *Ilenia Simeoni. Application of next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants. Human Mutation, 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15. PMID:31562665.

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

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

Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost., 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. PMID: 31179617.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, 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, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

“Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders”. (opens in a new tab) Blood, 2019 May 7. pii: blood.2018891192. doi: 10.1182/blood.2018891192. PMID: 31064749.

Tuijnenburg P, Allen HL, de Bree GJ, Savic S, Jansen MH, Stockdale C, Simeoni I, Ten Berge IJM, van Leeuwen EMM, BioResource NIHR, Thaventiran JE, Kuijpers TW. “Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. (opens in a new tab)” Clin Immunol., 2019 Apr 3;203:23-27. doi: 10.1016/j.clim.2019.03.010, PMID: 30953794.

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

I.Simeoni*, O. Shamardina*, SVV Deevi*, M. Thomas, K. Megy, E. Staples, D. Whitehorn, D. Duarte, R. Mapeta, WH Ouwehand, CJ Penkett, P. Rayner-Matthews, H. Stark, 1,2Jonathan C Stephens, KE Stirrups, E. Turro, NIHR BioResource, A. Thrasher, TW Kuijpers, KGC Smith, S. Savic, SO Burns, JE Thaventhiran* and H. Lango Allen*. GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies. bioRxiv, 2018, 431544; doi: https://doi.org/10.1101/431544 (opens in a new tab).

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–Rare Diseases Consortium. Whole Genome Sequencing identifies NFKB1 haploinsufficiency as the commonest known monogenic cause of Common Variable Immunodeficiency. Journal of Allergy Clin Immunol., 2018 Feb 22, PMID: 29477724.

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.