Recent Departmental publications

Recent Departmental publications

2025

Jordan B, Graham SA, Allen S, Harrison V. Clinical utility of prenatal exome sequencing for isolated short long bones and isolated small-for-gestational age. Ultrasound Obstet Gynecol. 2025 Mar;65(3):386-388. doi: 10.1002/uog.29188. Epub 2025 Feb 12. PMID: 39936496.

Leung EY, Funingana IG, Bird L, Alcaraz ML, Evans A, Considine A, Freeman S, Jimenez-Linan M, Spencer C, Phanasan K, Winning J, Ang JE, Parkinson C, Ong KR, Butler S, Ridgway O, Charles I, Pannell R, Abedin P, Boyle W, Emery J, Salter-Scott J, Williams S, Ganesan R, Sundar S, Balega J, Brenton JD. Promoting equitable genetic testing in ovarian cancer: the demonstration of improvement for molecular ovarian cancer testing (DEMO) project. BMJ Open Qual. 2025 Feb 25;14(Suppl 1):e002720. doi: 10.1136/bmjoq-2023-002720. PMID: 40000103; PMCID: PMC11865723.

Yngvadottir B, Richman L, Andreou A, Woodley J, Luharia A, Lim D; Genes & Health Research Team; Maher ER, Marciniak SJ. Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts. Thorax. 2025 Jul 15;80(8):553-555. doi: 10.1136/thorax-2024-221738. PMID: 40210444; PMCID: PMC12322431.

Varney L, Murtough S, Cotic M, Abidoph R, Chan L, Saadullah Khani N, Richards-Belle A, Richards-Brown M, Mills D, Panconesi D, Dawda Y, Sharma P, Shah C, Secchi A, Nilforooshan R, Mudholkar S, Murdoch R, Molai J, Griffiths R, Senthilkumar S, Blake H, Lankshear S, McRoberts J, Pastor B, Thomas C, Richards S, Welfare-Wilson A, Cheung SB, Cox R, Jibero AC, Anad R, Laczik R, Ghali S, Berry AJ, Curwen J, Odutoye K, Kottalgi G, Williams S, Wong S, Anandan N, Pius G, Ajiteru T, Clark V, van Driel P, Bashir A, Court S, Pawsey M, Skowronska A, Woodley J, Bramon E. Effect of CYP1A2, CYP2D6, and CYP3A4 Variation on Antipsychotic Treatment Outcomes. Pharmaceuticals (Basel). 2025 Jun 14;18(6):892. doi: 10.3390/ph18060892. PMID: 40573287; PMCID: PMC12196257.

2024

Leung E, Robbins H, Zaman S, Lal, N, Morton D, Dew L, Williams A, Wallis Y, Bell J, Raghavan M, Middleton G, Beggs A; The potential clinical utility of whole genome sequencing for patients with gynaecological cancer: the 100,000 genomes project regional implementation. Br J Cancer. Oct 2024 131:1805–1813; https://doi.org/10.1038/s41416-024-02890-6; PMID: 39478124

Allen SK, Doyle S.  Chapter 2 - Non-Invasive Prenatal Diagnosis. Best Practice and research, Clinical Obstetrics & Gynaecology. 2024. Sep 3;97:102544. PMID: 39255551 

Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation. Front Genet. 2024 Nov 6;15:1485306. PMID: 39568676

Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, Leeson-Beevers K, Allen S, Baple EL, ..., Chitty LS, Hill M. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences. Front Genet. 2024 Jun 5;15:1401705. PMID: 38903755. 

Allen SK, Chandler NJ, Kinning E, Harrison V, Brothwell SLC, Vijay S, Castleman J, Cilliers D. Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies. Prenat Diagn. 2024 Apr;44(4):432-442. PMID: 38063435. 

Wall E, Petley E, Mone F, Doyle S, Hartles-Spencer L, Allen SK, Castleman J, Marton T, Williams D. Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach. Ultrasound Obstet Gynecol. 2024 Mar 22. PMID: 38517166. 

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. Prenat Diagn. 2024 Apr;44(4):422-431. PMID: 38054560

Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. PMID: 38776926; PMCID: PMC11179413.

Hartill V, Kabir M, Best S, Shaikh Qureshi WM, Baross SL, Lord J, Yu J, Sasaki E, Needham H, Shears D, Roche M, Wall E, Cooper N, Ryan G, Eason J, Johnson R, Keavney B, Hentges KE, Johnson CA. Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. Eur J Hum Genet. 2024 Nov 26. doi: 10.1038/s41431-024-01744-2. Epub ahead of print. PMID: 39587356.

Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack, Genomics England Research Consortium, ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations, Brain, Volume 147, Issue 7, July 2024, Pages 2471–2482, https://doi.org/10.1093/brain/awae058

Macaskill L, Reali L, Naik S. Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris. Clin Dysmorphol. 2024 Jul 1;33(3):125-127. doi: 10.1097/MCD.0000000000000482. Epub 2024 Feb 26. PMID: 38411002.

McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. Eur J Hum Genet. 2024 May;32(5):479-488. doi: 10.1038/s41431-023-01507-5. Epub 2024 Mar 5. Erratum in: Eur J Hum Genet. 2024 Aug 2. doi: 10.1038/s41431-024-01670-3. PMID: 38443545; PMCID: PMC11061103.

de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. PMID: 39507620; PMCID: PMC11537883.

Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. J Med Genet. 2024 Mar 21;61(4):305-312. doi: 10.1136/jmg-2023-109645. PMID: 38154813; PMCID: PMC10982625.

Hanson B, Shaw J, Povarnitsyn N, Bowns B, Young E, Gerrish A, Allen S, Scotchman E, Chitty LS, Chandler NJ. Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families. Clin Chem. 2024 May 2;70(5):727-736. doi: 10.1093/clinchem/hvae023. PMID: 38592422.

Gerrish A, Mashayamombe-Wolfgarten C, Stone E, Román-Montañana C, Abbott J, Jenkinson H, Millen G, Gurney S, McCalla M, Staveley SJ, Kainth A, Kirk M, Bowen C, Cavanagh S, Bunstone S, Carney M, Mohite A, Clokie S, Reddy MA, Foster A, Allen S, Parulekar M, Cole T. Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort. Cancers (Basel). 2024 Apr 19;16(8):1565. doi: 10.3390/cancers16081565. PMID: 38672657; PMCID: PMC11049382.

V. Kunene 1, M. Ding 1 2, M. Yap 2, E.A. Griffiths 1 2, P. Taniere 1, D. Fackrell 1, S. Butler 3, G. Contino 2. Prognostic markers in oesophageal and gastric cancer review. Are they ready for clinical practice? ESMO Gastroenterology Oncology; ReviewVolume 6100091December 2024 Open access

Dimbleby G, Rettino A, Jogai S, Harinayanan S, Patel N, Battison S, Moutasim K. A Case of Acinic Cell Carcinoma with SYN2::PPARG Fusion. Head Neck Pathol. 2024 Oct 17;18(1):107. PMID: 39417931

Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs AM, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6. Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. PMID: 39386087; PMCID: PMC11462438.

2023

Kilby MD, Castleman J, Allen S, Doyle S, Williams DK. Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype. Prenat Diagn. 2023 Oct;43(11):1472-1476. doi: 10.1002/pd.6438. PMID: 37698465. 

Meyer C, Larghero P, Almeida Lopes B, Burmeister T, Gröger D, Sutton R, Venn NC, Cazzaniga G, Corral Abascal L, Tsaur G, Fechina L, Emerenciano M, Pombo-de-Oliveira MS, Lund-Aho T, Lundán T, Montonen M, Juvonen V, Zuna J, Trka J, Ballerini P, Lapillonne H, Van der Velden VHJ, Sonneveld E, Delabesse E, de Matos RRC, Silva MLM, Bomken S, Katsibardi K, Keernik M, Grardel N, Mason J, Price R, Kim J, Eckert C, Lo Nigro L, Bueno C, Menendez P, Zur Stadt U, Gameiro P, Sedék L, Szczepański T, Bidet A, Marcu V, Shichrur K, Izraeli S, Madsen HO, Schäfer BW, Kubetzko S, Kim R, Clappier E, Trautmann H, Brüggemann M, Archer P, Hancock J, Alten J, Möricke A, Stanulla M, Lentes J, Bergmann AK, Strehl S, Köhrer S, Nebral K, Dworzak MN, Haas OA, Arfeuille C, Caye-Eude A, Cavé H, Marschalek R. The KMT2A recombinome of acute leukemias in 2023. Leukemia. 2023 May;37(5):988-1005. doi: 10.1038/s41375-023-01877-1. Epub 2023 Apr 5. PMID: 37019990; PMCID: PMC10169636.

Bogue D, Ryan G, Wassmer E, Research Consortium GE, Naik S. VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders. Mol Syndromol. 2023 Oct;14(5):449-456. doi: 10.1159/000530150. Epub 2023 Jun 1. PMID: 37901860; PMCID: PMC10601795.

Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G; Genomics England Research Consortium; McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 Jan 23;188(1):75-83. doi: 10.1093/bjd/ljac026. PMID: 36689522.

Lam Z, Wall E, Ryan G, Barber R, Kilby MD, Williams DK. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies. Prenat Diagn. 2023 Aug;43(9):1247-1250. doi: 10.1002/pd.6404. Epub 2023 Jul 19. PMID: 37409888.

Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. PMID: 37009414; PMCID: PMC10064225.

Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, Broadgate S, Butler S, Cazeaux A, Craft J, Cranston T, Crawford G, Forrest J, Gabriel J, George E, Gillen D, Haeger A, Hastings Ward J, Hawkes L, Hodgkiss C, Hoffman J, Jones A, Karpe F, Kasperaviciute D, Kovacs E, Leigh S, Limb E, Lloyd-Jani A, Lopez J, Lucassen A, McFarlane C, O'Rourke AW, Pond E, Sherman C, Stewart H, Thomas E, Thomas S, Thomas T, Thomson K, Wakelin H, Walker S, Watson M, Williams E, Ormondroyd E. Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure. Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19. PMID: 38131308.

Cerone MA, Mills TC, Sharpe R, McBride D, MacDonald M, MacMahon S, Mugalaasi H, Rehal P, Rettino A, Roberts H, Ross M, White DE, Peden J, Rawlinson J, Ho SN, Hollingsworth S, Popat S, Middleton G, Johnson P, Swanton C; SMP2 consortium. The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care. Br J Cancer. 2023 Jan;128(2):161-164. PMID: 36599918

Wall E, Forsyth J, Kinning E, Marton T. Fetal hydrops caused by a novel pathogenic MECOM variant. Prenat Diagn. 2023 Jun;43(6):717-720. doi: 10.1002/pd.6353. Epub 2023 May 17. PMID: 37160698.

2022

Mone F, Abu Subieh H, Doyle S, Hamilton S, McMullan DJ, Allen S, Marton T, Williams D, Kilby MD.  Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study. Ultrasound Obstet Gynecol. 2022 Jun;59(6):723-730. 

Horton-Bell M, Hamilton S, Keelagher R, Allen S, De Burca A, Ioannou C, Impey L, Cilliers D.  Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene. Prenat Diagn. 2022 Nov;42(12):1481-1483. 

Poljak B, Agarwal U, Alfirevic Z, Allen S, Canham N, Higgs J, Kaelin Agten A, Khalil A, Roberts D, Mone F, Navaratnam K.  Prenatal exome sequencing and impact on perinatal outcome: cohort study. Ultrasound Obstet Gynecol. 2022 Dec 12

Emms A, Castleman J, Allen S, Williams D, Kinning E, Kilby M. Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation. Genes (Basel). 2022 Aug 24;13(9):1517. doi: 10.3390/genes13091517. PMID: 36140685; PMCID: PMC9498826

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.

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.

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.

Bouchoucha Y, Matet A, Berger A, Carcaboso AM, Gerrish A, Moll A, Jenkinson H, Ketteler P, Dorsman JC, Chantada G, Beck-Popovic M, Munier F, Aerts I, Doz F, Golmard L; European Retinoblastoma Group EuRbG. Retinoblastoma: From genes to patient care. Eur J Med Genet. 2023 Jan;66(1):104674. doi: 10.1016/j.ejmg.2022.104674. Epub 2022 Dec 5. PMID: 36470558.

Ahmed MZ, Venkatadasari I, Dyer S, Wall K, Huxley E, Lovell R, Kishore B, Dassanayake H, Francis S, Nikolousis E, Kanellopoulos A. Clonal evolution in adult TCF3::HLF-positive acute lymphoblastic leukemia undergoing stem cell transplantation. Ann Hematol. 2022 Nov;101(11):2553-2554. doi: 10.1007/s00277-022-04941-5. Epub 2022 Jul 30. PMID: 35907039