Recent Departmental publications

Sherlaw-Sturrock CA, Graham S, Morgan A, Reali L, Naik S. Xq21.1q21.31 Duplication in Two Male Siblings. Mol Syndromol. 2022 Feb;13(2):152-158. doi: 10.1159/000518933. Epub 2021 Nov 1. PMID: 35418824; PMCID: PMC8928204.

Assis RIF, Racca F, Ferreira RS, Ruiz KGS, da Silva RA, Clokie SJH, Wiench M, Andia DC. Osteogenic Commitment of Human Periodontal Ligament Cells Is Predetermined by Methylation, Chromatin Accessibility and Expression of Key Transcription Factors. Cells. 2022 Mar 26;11(7):1126. doi: 10.3390/cells11071126. PMID: 35406691; PMCID: PMC8997528.

Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice. J Med Genet. 2022 Mar 8:jmedgenet-2021-108355. doi: 10.1136/jmedgenet-2021-108355. Epub ahead of print. PMID: 35260474.

Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE; Genomics England Research Consortium, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Hum Mol Genet. 2022 Jan 6:ddab368. doi: 10.1093/hmg/ddab368. Epub ahead of print. PMID: 34999892.

Lin WY, Fordham SE, Hungate E, Sunter NJ, Elstob C, Xu Y, Park C, Quante A, Strauch K, Gieger C, Skol A, Rahman T, Sucheston-Campbell L, Wang J, Hahn T, Clay-Gilmour AI, Jones GL, Marr HJ, Jackson GH, Menne T, Collin M, Ivey A, Hills RK, Burnett AK, Russell NH, Fitzgibbon J, Larson RA, Le Beau MM, Stock W, Heidenreich O, Alharbi A, Allsup DJ, Houlston RS, Norden J, Dickinson AM, Douglas E, Lendrem C, Daly AK, Palm L, Piechocki K, Jeffries S, Bornhäuser M, Röllig C, Altmann H, Ruhnke L, Kunadt D, Wagenführ L, Cordell HJ, Darlay R, Andersen MK, Fontana MC, Martinelli G, Marconi G, Sanz MA, Cervera J, Gómez-Seguí I, Cluzeau T, Moreilhon C, Raynaud S, Sill H, Voso MT, Lo-Coco F, Dombret H, Cheok M, Preudhomme C, Gale RE, Linch D, Gaal-Wesinger J, Masszi A, Nowak D, Hofmann WK, Gilkes A, Porkka K, Milosevic Feenstra JD, Kralovics R, Grimwade D, Meggendorfer M, Haferlach T, Krizsán S, Bödör C, Stölzel F, Onel K, Allan JM. Genome-wide association study identifies susceptibility loci for acute myeloid leukemia. Nat Commun. 2021 Oct 29;12(1):6233. doi: 10.1038/s41467-021-26551-x. Erratum in: Nat Commun. 2022 Jan 4;13(1):2. PMID: 34716350; PMCID: PMC8556284.

Patterson J, Wellesley D, Morgan S, Cilliers D, Allen S, Gardiner CA; Fetal Genomics Steering Group; UK Clinical Genetics Lead Clinician Group; UK Heads of Genetics Laboratory Group. Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019). Prenat Diagn. 2021 May;41(6):661-667. doi: 10.1002/pd.5944. Epub 2021 Apr 13. PMID: 33848363.

Mone F, Eberhardt RY, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Dempsey E, Homfray T, Giordano JL, Wapner RJ, Sun L, Sparks TN, Norton ME, Kilby MD. Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis. Ultrasound Obstet Gynecol. 2021 Oct;58(4):509-518. doi: 10.1002/uog.23652. PMID: 33847422; PMCID: PMC8487902.

Morgan NV, Yngvadottir B, O'Driscoll M, Clark GR, Walsh D, Martin E, Tee L, Reid E, Titheradge HL, Maher ER. Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL. Brain Commun. 2021 Jan 28;3(1):fcab002. doi: 10.1093/braincomms/fcab002. PMID: 33634263; PMCID: PMC7892364.

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. Epub 2021 Feb 22. PMID: 33616470.

Awasthi A, Barbour J, Beggs A, Bhandari P, Blakeway D, Brookes M, Brown J, Brown M, Caldwell G, Clokie S, Colleypriest B, Conlin A, de Silva S, de Caestecker J, Deeks J, Dhar A, Dilworth M, Fogden E, Foley S, Ghosh D, Grellier L, Hart A, Hoque SS, Iacucci M, Iqbal T, James J, Jarvis M, Jayaprakash A, Keshav S, Magill L, Matthews G, Mawdsley J, McLaughlin S, Mehta S, Monahan K, Morton D, Murugesan S, Parkes M, Pestinger V, Probert C, Ramadas A, Rettino A, Sebastian S, Sharma N, Griffiths M, Stockton J, Subramanian V, Suggett N, Taniere P, Teare J, Verma AM, Wallis Y. Enhanced neoplasia detection in chronic ulcerative colitis: the ENDCaP-C diagnostic accuracy study. Southampton (UK): NIHR Journals Library; 2021 Jan. PMID: 33439599.

Gleneadie HJ, Baker AH, Batis N, Bryant J, Jiang Y, Clokie SJH, Mehanna H, Garcia P, Gendoo DMA, Roberts S, Burley M, Molinolo AA, Gutkind JS, Scheven BA, Cooper PR, Parish JL, Khanim FL, Wiench M. The anti-tumour activity of DNA methylation inhibitor 5-aza-2'-deoxycytidine is enhanced by the common analgesic paracetamol through induction of oxidative stress. Cancer Lett. 2021 Mar 31;501:172-186. doi: 10.1016/j.canlet.2020.12.029. Epub 2021 Jan 5. PMID: 33359448; PMCID: PMC7845757.

Mone F, Doyle S, Ahmad A, Abu Subieh H, Hamilton S, Allen S, Marton T, Williams D, Kilby MD. Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study. Acta Obstet Gynecol Scand. 2021 Mar;100(3):418-424. doi: 10.1111/aogs.14036. Epub 2020 Nov 27. PMID: 33128783.

Mone F, Eberhardt RY, Morris RK, Hurles ME, McMullan DJ, Maher ER, Lord J, Chitty LS, Giordano JL, Wapner RJ, Kilby MD; CODE Study Collaborators. COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review. Ultrasound Obstet Gynecol. 2021 Jan;57(1):43-51. doi: 10.1002/uog.22072. Epub 2020 Dec 3. PMID: 32388881.

Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy A, McGrath JA, Ogboli M, Heagerty AHM. Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). Clin Exp Dermatol. 2022 Feb;47(2):497-502. doi: 10.1111/ced.14917. Epub 2021 Nov 21. PMID: 34806203.

Reisel D, Burnell M, Side L, Loggenberg K, Gessler S, Desai R, Sanderson S, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R. Jewish cultural and religious factors and uptake of population-based BRCA testing across denominations: a cohort study. BJOG. 2021 Nov 10. doi: 10.1111/1471-0528.16994. Epub ahead of print. PMID: 34758513.

Foo T, Nama V, Attygalle AD, Williams J, Heelan K, Butler S, McVeigh TP. Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome. Fam Cancer. 2021 Sep 14. doi: 10.1007/s10689-021-00272-y. Epub ahead of print. PMID: 34519924.

Scott S, Cartwright A, Francis S, Whitby L, Sanzone AP, Mulder A, Galimberti S, Dulucq S, Mauté C, Lauricella C, Salmon M, Rose S, Willoughby J, Boeckx N, Pallisgaard N, Maier J, Leibundgut EO, Zizkova H, Ling Goh L, Duong C, Tang WF, Ma E, Shivakumar Y, Beppu L, Bhagavatula P, Chantry A. Assessment of droplet digital polymerase chain reaction for measuring BCR-ABL1 in chronic myeloid leukaemia in an international interlaboratory study. Br J Haematol. 2021 Jul;194(1):53-60. doi: 10.1111/bjh.17521. Epub 2021 Jun 10. PMID: 34114218.

Sundar S, Manchanda R, Gourley C, George A, Wallace A, Balega J, Williams S, Wallis Y, Edmondson R, Nicum S, Frost J, Attygalle A, Fotopoulou C, Bowen R, Bell D, Gajjar K, Ramsay B, Wood NJ, Ghaem-Maghami S, Miles T, Ganesan R. British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for germline and tumor testing for BRCA1/2 variants in ovarian cancer in the United Kingdom. Int J Gynecol Cancer. 2021 Feb;31(2):272-278. doi: 10.1136/ijgc-2020-002112. Epub 2021 Jan 19. Erratum in: Int J Gynecol Cancer. 2021 Dec;31(12):1619. PMID: 33468564.

Radley JA, Connolly M, Sabir A, Kanani F, Carley H, Jones RL, Hyder Z, Gompertz L, Reardon W, Richardson R, McClelland L, Maher ER. Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals. Clin Genet. 2021 Sep;100(3):292-297. doi: 10.1111/cge.13997. Epub 2021 Jun 6. PMID: 33993487.

Sherlaw-Sturrock CA, Cassidy G, Glover K, Naik S. A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease. Clin Dysmorphol. 2020 Jan;29(1):65-68. doi: 10.1097/MCD.0000000000000305. PMID: 31688096.

Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L. Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. Clin Genet. 2020 Jul;98(1):19-31. doi: 10.1111/cge.13752. Epub 2020 May 4. PMID: 32291752.

Drozniewska M, Kilby MD, Vogt J, Togneri F, Quinlan-Jones E, Reali L, Allen S, McMullan D. Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray. Clin Case Rep. 2020 Feb 6;8(3):508-511. doi: 10.1002/ccr3.2509. PMID: 32185046; PMCID: PMC7069884.

Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 2020 Sep;28(9):1141-1159. doi: 10.1038/s41431-020-0643-7. Epub 2020 May 18. PMID: 32424326; PMCID: PMC7608854.

Chang E, Fu C, Coon SL, Alon S, Bozinoski M, Breymaier M, Bustos DM, Clokie SJ, Gothilf Y, Esnault C, Michael Iuvone P, Mason CE, Ochocinska MJ, Tovin A, Wang C, Xu P, Zhu J, Dale R, Klein DC. Resource: A multi-species multi-timepoint transcriptome database and webpage for the pineal gland and retina. J Pineal Res. 2020 Oct;69(3):e12673. doi: 10.1111/jpi.12673. Epub 2020 Jul 8. PMID: 32533862; PMCID: PMC7513311.

Boyle W, Williams A, Sundar S, Yap J, Taniere P, Rehal P, Ganesan R. TMP3-NTRK1 rearranged uterine sarcoma: A case report. Case Rep Womens Health. 2020 Aug 21;28:e00246. doi: 10.1016/j.crwh.2020.e00246. PMID: 32939344; PMCID: PMC7479314.

Rack KA, van den Berg E, Haferlach C, Beverloo HB, Costa D, Espinet B, Foot N, Jeffries S, Martin K, O'Connor S, Schoumans J, Talley P, Telford N, Stioui S, Zemanova Z, Hastings RJ. European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: reponse to the comments from the Francophone Group of Hematological Cytogenetics (GFCH). Leukemia. 2020 Aug;34(8):2262-2264. doi: 10.1038/s41375-020-0736-x. Epub 2020 Feb 7. PMID: 32042082; PMCID: PMC7387292.

Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, Oliveira P, Vialard L, Wallis Y, Maher ER, Woodward ER. Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals. Eur Urol Oncol. 2020 Dec;3(6):764-772. doi: 10.1016/j.euo.2019.11.002. Epub 2019 Dec 9. PMID: 31831373.

Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. PMID: 32098966; PMCID: PMC7042299.

Horgan C, Kartsios C, Nikolousis E, Shankara P, Kishore B, Lovell R, Murthy V, Rudzki Z, Dyer S, Holtom P, Thompson G, Kaparou M, Xenou E, Lloyd R, Venkatadasari I, Kanellopoulos AG. First case of near haploid philadelphia negative B-Cell acute lymphoblastic leukaemia relapsing as acute myeloid leukemia following allogeneic hematopoietic stem cell transplantation. Leuk Res Rep. 2020 Jun 18;14:100213. doi: 10.1016/j.lrr.2020.

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