Publications

A list of publications arising from and referring to the Project is shown below the citation directions. If you know of a relevant publication not listed here, please contact us.

Publications leveraging Genomics England data assets and Research Environment*

2021

• Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects Alistair T. Pagnamenta, Adam Jackson, Rahat Perveen, et al. doi: 10.1111/cge.14071 Clinical Genetics (06/10/2021)
• Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA Daan Viering, Karl-Peter Schlingmann, Marguerite Hureaux, et al. Journal of the American Society of Nephrology doi: 10.1681/ASN.2021050596 (04/10/2021)
• Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project Yuguo Wei, Nikolaos Papachristou, Stefanie Mueller, et al. BMC Research Notes doi: 10.1186/s13104-021-05789-0 (02/10/2021)
• Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis A. Rimbert, M. Futema, M. Williams, et al. Atherosclerosis Plus 10.1016/j.athplu.2021.07.008 (28/09/2021)
• APOE gene testing in FH referrals – the story so far C. Duff-Farrier, M. Pennock, E.Watson, et al. Atherosclerosis Plus 10.1016/j.athplu.2021.07.003 (28/09/2021)
• Whole genome sequencing in the diagnosis of primary ciliary dyskinesia Gabrielle Wheway, N. Simon Thomas, Mary Carroll, et al. BMC Medical Genomics doi: 10.1186/s12920-021-01084-w (23/09/2021)
• Circulating tumour DNA is a promising biomarker for risk stratification of central chondrosarcoma with IDH1/2 and GNAS mutations Iben Lyskjær, Christopher Davies, Anna-Christina Strobl, et al. doi: 10.1002/1878-0261.13102 Molecular Oncology (15/09/2021)
• Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease Holly Mabillard, John A Sayer, Eric Olinger. doi: 10.1093/ndt/gfab268 Nephrology Dialysis Transplantation (14/09/2021)
• Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion Nicholas Brennecke, Ignazio Cali, Tze How Mok, et al. Viruses doi:10.3390/v13091794 (08/09/2021)
• Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project Oliver C. Lomas, Sarah Gooding, Maite Cabes, et al. doi: 10.1002/jha2.276 eJHaem (26/08/2021)
• Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis Zerin Hyder, Eduardo Calpena, Yang Pei, et al. Genetics in Medicine 10.1038/s41436-021-01297-5 (25/08/2021)
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome Marjolein J. A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, et al. Genetics in Medicine doi: 10.1038/s41436-021-01246-2 (03/08/2021)
• Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency Eleanor Hay, Louise C. Wilson, Bethan Hoskins, Martin Samuels, Pinki Munot & Shamima Rahman European Journal of Human Genetics doi: 10.1038/s41431-021-00932-8 (20/07/2021)
• Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome Laura Powell, Eric Olinger, Sarah Wedderburn, et al. Brain Communications doi: 10.1093/braincomms/fcab163 (16/07/2021)
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al. Genetics in Medicine doi: 10.1038/s41436-021-01260-4 (09/07/2021)
• A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families Eric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al. Human Mutation DOI: 10.1002/humu.24251 (02/07/2021)
• Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism MayaChopra, MerielMcEntagart, JillClayton-Smith, et al. American Journal of Medical Genetics doi: 10.1016/j.ajhg.2021.04.007 (03/06/2021)
• Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype Adam Jackson, Siddharth Banka, Helen Stewart, et al. American Journal of Medical Genetics doi: 10.1002/ajmg.a.62370 (01/05/2021)
• Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder Holger Hengel, Shabab B Hannan, Sarah Dyack, et al. American Journal Human Genetics DOI: 10.1016/j.ajhg.2021.04.024 (21/05/21)
• Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms Caroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al. American Journal Human Genetics DOI: 10.1016/j.ajhg.2021.04.025 (21/05/2021)
• A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al. American Journal Human Genetics DOI: 10.1016/j.ajhg.2021.04.019 (18/05/2021)
• Dissection of contiguous gene effects for deletions around ERF on chromosome 19 Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al. Humun Mutation doi: 10.1002/humu.24213 (16/05/2021)
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al. Brain doi: 10.1093/brain/awab041 (10/05/2021)
• Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature Neringa Jurkute, Priya D. Shanmugarajah, Marios Hadjivassiliou, et al. Genetics doi: doi.org/10.1167/iovs.62.6.2 (01/05/2021)
• A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage Xueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, et al. Nature Cancer doi: 10.1038/s43018-021-00200-0 (26/04/2021)
• Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, et al. Nature Genetics doi: 10.1038/s41588-021-00803-4 (29/03/2021)
• Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma Christine L. Jones, Andrea Degasperi, Vieri Grandi, et al. Scientific Reports doi: 10.1038/s41598-021-83352-4 (17/02/2021)
• Ocular Phenotype Associated with DYRK1A Variants Cécile Méjécase, Christopher M. Way, Nicholas Owen and Mariya Moosajee Genes doi: 10.3390/genes12020234 (05/02/2021)
• Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines,et al. Journal of Medical Genetics doi: 10.1136/jmedgenet-2020-107528 (05/02/2021)
• A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. Chadda KR1, Holland K2, Scoffings D3, et al. Neuropathology and Applied Neurobiology, DOI: 10.1111/nan.12701 (03/02/2021)
• G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling Mirja Tamara Prentzell, Ulrike Rehbein, Marti Cadena Sandoval et al. Cell DOI: 10.1016/j.cell.2020.12.024 (18/01/2021)
• An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al. Brain doi: 10.1093/brain/awaa420 (18/01/2021)
• Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects Alberto A. Zambona, Alexandra Lemaigre, Rahul Phadke et al. Neuromuscular Disorders doi: 10.1016/j.nmd.2020.12.009 (06/01/2021)

2020

• Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree Nancy Vegas, Karen Low, Christopher C Y Mak, et al. Brain doi: 10.1093/brain/awaa432 (22/12/2020)
• SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Yuh-Charn Lin, Marcello Niceta, Valentina Muto et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2020.11.015 (11/12/2020)
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Andrew E. Fry, Christopher Marra, Anna V. Derrick, et al. The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2020.10.017 (26/11/2020)
• Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline Jessica M Clarke, Mary Alikian, Sihao Xiao et al. Journal of Medical Genetics doi: 10.1136/jmedgenet-2019-106794 (24/11/2020)
• De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment Catherine Rodger, Elisabetta Flex, Rachel J. Allison, et al. The American Journal of Human Genetics doi: 10.1016/j.ajhg.2020.10.012 (12/11/2020)
• Whole genome sequencing for diagnosis of neurological repeat expansion disorders Kristina Ibanez, James Polke, Tanner Hagelstrom at al, bioRxiv doi: 10.1101/2020.11.06.371716 (06/11/2020)
• Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project. Pipis, M., Houlden, H. and Reilly, M. Medizinische Genetik, doi: 10.1515/medgen-2020-2037 (13/10/2020)
• Low Prevalence of NOTCH2NLC GGC Repeat Expansion in Caucasian Patients with Movement Disorders Yau, Wai Yan; Vandrovcova, Jana; Sullivan, Roisin; et al. Journal of Neurology, Neurosurgery, and Psychiatry doi: 10.1002/mds.28302 (07/10/2020)
• Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2020.09.002 (05/10/2020)
  
• Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project Thomas Bourinaris, Damian Smedley, Valentina Cipriani, et al. European Journal of Human Genetics doi: 10.1038/s41431-020-00720-w (15/09/2020)
• Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities Juliane Winkelmann, Dora Steel , Michael Zech, et al. Annals of Neurology doi: 10.1002/ana.25879 (18/08/2020)
  
• Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression Kreepa G Kooblall, Hannah Boon, Treena Cranston, et al. Journal of Bone and Mineral Research doi: 10.1002/jbmr.4156 (11/08/2020)
• Neuronal intranuclear inclusion disease is genetically heterogeneous Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al. Annals of Clinical and Translational Neurology doi: 10.1002/acn3.51151 (10/08/2020)
• Whole-genome sequencing of patients with rare diseases in a national health system Ernest Turro, William J. Astle, Karyn Megy, et al. Nature doi: 10.1038/s41586-020-2434-2 (24/06/2020)
• Sarcoma and the 100,000 Genomes Project: our experience and changes to practice Sophie C Prendergast, Anna-Christina Strobl, William Cross, et al. The Journal of Pathology. Clinical Research doi: 10.1002/cjp2.174 (23/06/2020)
• Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation Martin A. McClatchey, Zachary D. du Toit, Rhys Vaughan, et al. European Journal of Medical Genetics doi: 10.1016/j.ejmg.2020.103972 (10/06/2020)
• SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Eduardo Calpena, Araceli Cuellar, Krithi Bala, et al. Genetics in Medicine doi.: 10.1038/s41436-020-0817-2  (05/06/2020)
• De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated With ADHD, Craniosynostosis, and Osteochondromas Dara Tolchin, Jessica P Yeager, Priya Prasad, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2020.04.015 (04/06/2020)
• Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom Nikolas Pontikos, Gavin Arno, Neringa Jurkute et al. Ophthalmology doi: 10.1016/j.ophtha.2020.04.008 (16/04/2020)
• Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications Alison Foster, Basile Chalot, Thalia Antoniadi et al. Clinical Genetics doi: 10.1111/cge.13752 (14/04/2020)
• Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. Nature Communications doi: 10.1038/s41467-020-15336-3 (08/04/2020)
• Detailed Molecular and Immune Marker Profiling of Archival Prostate Cancer Samples Reveals an Inverse Association between TMPRSS2:ERG Fusion Status and Immune Cell Infiltration Srinivasa R. Rao, Nasullah K. Alham, Elysia Upton et al. The Journal of Molecular Diagnostics doi: 10.1016/j.jmoldx.2020.02.012 (27/03/2020)
• Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation Emmanuel Martin, Norbert Minet, Anne-Claire Boschat et al. Nature Communications doi: 10.1172/jci.insight.133880 (12/03/2020)
• Genomic loci susceptible to systematic sequencing bias in clinical whole genomes Timothy M. Freeman, Genomics England Research Consortium, Dennis Wang, and Jason Harris Genome Research doi: 10.1101/gr.255349.119 (11/03/2020)
• Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorder Sónia Barbosa Stephanie Greville-Heygate Maxime Bonnet et al. The American Journal of Human Genetics doi: 10.1016/j.ajhg.2020.01.018 (27/02/2020)
• Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli Cayetano Pleguezuelos-Manzano, Jens Puschhof, Axel Rosendahl Huber, et al. Nature doi: 10.1038/s41586-020-2080-8 (27/02/2020)
• Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor Raman Kumar, Elizabeth Palmer, Alison E. Gardner, et al. Frontiers in Molecular Neuroscience doi: 10.3389/fnmol.2020.00012 (11/02/2020)
• Human and mouse essentiality screens as a resource for disease gene discovery Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, et al. Nature Communications doi: 10.1038/s41467-020-14284-2 (31/01/2020)
• A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Sara Cuvertino, Verity Hartill, Alice Colyer, et al. Genetics in Medicine doi: 10.1038/s41436-019-0743-3 (17/01/2020)

2019

• Clinical and genetic variability in children with partial albinism. Campbell P, Ellingford JM, Parry NRA, et al. Nature Scientific Reports doi: 10.1038/s41598-019-51768-8 (12/11/2019)
• Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2 Ying Hong, Sira Nanthapisal, Ebun Omoyinmi, et al. Frontiers in Immunologydoi: 10.3389/fimmu.2019.02589 (11/11/2019)
• Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice Pagnamenta, Alistair T; Heemeryck, Pierre; Hilary C Martin, et al. Human Molecular Genetics doi: 10.1093/hmg/ddz186 (31/07/2019)
• Germline selection shapes the landscape of human mitochondrial DNA Wei, Wei; Chinnery, Patrick; et al Science doi: 10.1126/science.aau6520 (01/04/2019)
• Validating Whole Genome Sequencing (WGS) for clinical use in AML & ALL S. Henderson, A. Sosinsky, A. Hamblin, et al. British Journal of Haematology doi: 10.1111/bjh.15854 (27/03/2019)
• Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project Wheway, Gabrielle; Mitchison, Hannah H. Frontiers in Genetics doi: 10.3389/fgene.2019.00569 (11/03/2019)
• Whole-genome sequencing of rare disease patients in a national healthcare system Ouwehand, Willem H bioRxiv – pre-publication doi: 10.1101/507244 (01/01/2019)

2018

• Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project Robbe P., Popitsch N., Knight S.J.L., et al. Genet Med doi: 10.1038/gim.2017.241 (20/10/2018)
• Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia Jamie M Ellingford, Glenda Beaman, Kevin Webb, et al. Bio Rxiv doi: 10.1101/438838 (01/10/2018)
• Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL Jenny Klintman, Katerina Barmpouti, Samantha J. L. Knight, et al. British Journal of Haematology doi: 10.1111/bjh.15406 (29/05/2018)
• Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Gräf S., Haimel M., Bleda M., et al. Nature Communications doi: 10.1038/s41467-018-03672-4 (12/04/2018)

2017

• Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Alessia Fiorentino Kaoru Fujinami Gavin Arno et al. Human Mutation doi: 10.1002/humu.23349 (02/10/2017)

Other Publications about the 100,000 Genomes Project

2021

• Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland Michael Abbott, Lynda McKenzie, Blanca Viridiana Guizar Moran, et al. Journal of Community Genetics doi: 10.1007/s12687-021-00541-4 (20/08/2021)
• Whole-genome sequencing Huw R Morris, Henry Houlden & James Polke Practical Neurology doi: 10.1136/practneurol-2020-002561 (10/05/2021)
• Implications for the Colorectal Surgeon Following the 100,000 Genome Project Frank D McDermott Katy Newton Andrew D Beggs Susan K Clark Colorectal Disease doi: 10.1111/codi.15539 (20/01/2021)
• Personalised cancer medicine Anne Kerr, Choon Key Chekar, Emily Ross, et al. Personalised cancer medicine doi:10.7765/9781526141019.00011 (19/01/21)
• The ethics of genomic medicine: redefining values and norms in the UK and France Marie Gaille, Ruth Horn & The UK-FR GENE (Genetics and Ethics Network) Consortia European Journal of Human Genetics doi: 10.1038/s41431-020-00798-2 (17/01/2021)
• Toward better governance of human genomic data Kieran C. O’Doherty, Mahsa Shabani, Edward S. Dove, et al. Nature Genetics doi: 10.1038/s41588-020-00742-6 07 January 2021

2020

• KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Laura Cif, Diane Demailly, Jean-Pierre Lin, et al. Brain doi:10.1093/brain/awaa304 (05/11/2020)
• Distributed Computing in a Pandemic: A Review of Technologies available for Tackling COVID-19 Jamie J Alnasir arXiv (03/11/2020)
• Rare diseases band together toward change in research Claire Ainsworth Nature Medicine doi: 10.1038/s41591-020-1098-7 (07/10/2020)
• Extreme heterogeneity of human mitochondrial DNA from organelles to populations  James B. Stewart and Patrick F. Chinnery Nature Reviews Genetics doi: 10.1038/s41576-020-00284-x (28/09/2020)
• Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, et al. Epilepsy & Behaviour Reports doi: 10.1016/j.ebr.2020.100389 (31/08/2020)
• Young people’s understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100,000 genomes project Celine Lewis, Jennifer Hammond, Melissa Hill, et al. European Journal of Medical Genetics doi: 10.1016/j.ejmg.2020.104043 (21/08/2020)
• A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis Elena R. Schiff, Malena Daich Varela, Anthony G. Robson et al. American journal of Medical Genetics doi: 10.1002/ajmg.c.31822 (07/08/2020)
• From rare diseases to Covid-19: charting the history of Genomics England Allie Nawrat Pharmaceutical Technology (30/07/2020)
• Understanding the Global Landscape of Genomic Initiatives The IQVIA Institute Reports (12/05/2020)
• EWSR1-SMAD3 fibroblastic tumour of bone: expanding the clinical spectrum Solange De Noon, Adrienne M Flanagan, Roberto Tirabosco, et al. Skeletal Radiology doi: 10.1007/s00256-020-03563-0 (24/07/2020)
• Genotype–phenotype correlation at codon 1740 of SETD2 Rachel Rabin, Alireza Radmanesh, Ian A. Glass et al. American journal of Medical Genetics doi: 10.1002/ajmg.a.61724 (24/07/2020)
• Why Formalin-fixed, Paraffin-embedded Biospecimens Must Be Used in Genomic Medicine: An Evidence-based Review and Conclusion William Mathieson & Geraldine A. Thomas Journal of Histochemistry & Cytochemistry doi: 10.1369/0022155420945050 (22/07/2020)
  
• De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al. Genetics in Medicine doi: 10.1038/s41436-020-0898-y (22/07/2020)
• A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England Lamiece Hassan, Ann Dalton, Carrie Hammond, et al. Public Understanding of Science doi: 10.1177/0963662520942132 (15/07/2020)
• A coagulation defect arising from heterozygous premature termination of tissue factor Sol Schulman, Emale El-Darzi, Mary HC Florido, et al. The Journal of Clinical Investigation doi: 10.1172/JCI133780 (14/07/2020)
• Analyzing Genetic Testing Discourse on the Web Through the Lens of Twitter, Reddit, and 4chan Alexandros Mittos, Savvas Zannettou, Jeremy Blackburn, Emiliano de Cristofaro ACM Transactions on the Web (23/06/2020)
• Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants Eleanor Hay, Robert Henderson, Sahar Mansour, et al. Clinical Genetics doi: 10.1111/cge.13795 (12/06/2020)
• Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis Alexandra J. Childs, David C. Mabin, Peter D. Turnpenny American Journal of Medical Genetics doi: 10.1002/ajmg.a.61628 (31/05/2020)
• The Genetic Family as Patient? Bartha Maria Knoppers & Kristina Kekesi-Lafrance The American Journal of Bioethics doi: 10.1080/15265161.2020.1754505 (22/05/2020)
• Genomics-guided pre-clinical development of cancer therapies Hayley E. Francies, Ultan McDermott & Mathew J. Garnett Nature Cancer  doi: 10.1038/s43018-020-0067-x (22/05/2020)
• International Data Sharing and Rare Disease: The Importance of Ethics and Patient Involvement Adrian Thorogood Rare Diseases doi: 10.5772/intechopen.91237 (25/03/2020)
• Essentiality-specific pathogenicity prioritization gene score to improve filtering of disease sequence data Dareen Alyousfi, Diana Baralle and Andrew Collins Briefings in Bioinformatics doi: 10.1093/bib/bbaa029  (18/03/2020)
• Big data in digital healthcare: lessons learnt and recommendations for general practice Raag Agrawal & Sudhakaran Prabakaran Heredity (05/03/2020)
• Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet et al. The American Journal of Human Genetics (27/02/2020)
• Brexit as heredity redux: Imperialism, biomedicine and the NHS in Britain. Fitzgerald, D., Hinterberger, A., Narayan, J. et al. SAGE Publications (24/02/2020)
• KIF1A‐related disorders in children: a wide spectrum of central and peripheral nervous system involvement Tarishi Nemani, Dora Steel, Marios Kaliakatsos, et al. Journal of the Peripheral Nervous System doi: 10.1111/jns.12368 (24/02/2020)
• Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, et al. The Journal of Clinical Endocrinology & Metabolism, doi: 10.1210/clinem/dgaa078 (15/02/2020)
• Data-driven precision medicine: PreMed phase 2 report Jaakko Lähteenmäki, Richard Fagerström, Mark van Gils, et al. VTT Tutkimusraportti (14/02/2020)
• Effect of Different Proteinase K Digest Protocols and Deparaffinization Methods on Yield and Integrity of DNA Extracted From Formalin-fixed, Paraffin-embedded Tissue Zoe Frazer, Changyoung Yoo, Manveer Sroya, et al. Journal of Histochemistry & Cytochemistry (11/02/2020)
• Using genomics to uncover the secrets behind inherited diseases Dr Khor Ing Wei MediCine_Issue33 (07/02/2020)
• Understanding experiences of recruiting for, and participating in, genomics research and service transformation: the 100,000 Genomes Project, 2015-17 Sara Ryan, Elizabeth Holdsworth, Jade Howard, et al. PIRU Publication (01/02/2020)
• Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study Celine Lewis, Saskia Sanderson, Melissa Hill, et al. European Journal of Human Genetics doi: 10.1038/s41431-020-0575-2 (30/01/2020)
• Evidence for penetrance in patients without a family history of disease: a systematic review Heather Turner, Leigh Jackson European Journal of Human Genetics doi: 10.1038/s41431-019-0556-5 (14/01/2020)
• Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study Lisa M. Ballard, Rachel H. Horton, Sandi Dheensa, et al. European Journal of Human Genetics doi: 10.1038/s41431-019-0570-7 (09/01/2020)

2019

• Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case A. H. Sabir, G. Ryan, Z. Mohammed et al. Hindawi Case Reports in Genetics doi: 10.1155/2019/1398250 (22/12/2019)
• International perspectives on the implementation of reproductive carrier screening Martin B. Delatycki, Fowzan Alkuraya, Alison Archibald, et al. Prenatal Diagnosis doi: 10.1002/pd.5611 (27/11/2019)
• Should doctors have a legal duty to warn relatives of their genetic risks? Middleton A, Milne R, Robarts L, et al. The Lancet doi: 10.1016/ S0140-6736(19)32941-1 (25/11/2019)
• Using the Findings of a National Survey to Inform the Work of England’s Genomics Education Programme. Simpson, S., Seller, A. and Bishop, M. Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01265 (18/11/2019)
• Systematic review of differential methylation in rare ophthalmic diseases Katie Kerr, Helen McAneney, Laura Smyth, et al. British Medical Journal Open Opthalmology doi: 10.1136/ bmjophth-2019-000342 (13/11/2019)
• Clinical-Grade Whole Genome Sequencing Reproduces FISH Cytogenetics and Provides Actionable Data in Newly Diagnosed Myeloma – a Pilot Study from the UK 100,000 Genomes Project Oliver Lomas, Sarah Gooding, Karthik Ramasamy, et al. Blood doi: 10.1182/blood-2019-125145 (13/11/2019)
• Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce Michelle Bishop, Edward Miller, Amelia McPherson, et al. Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01094 (13/11/2019)
• Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach Amy Nisselle, Melissa Martyn, Helen Jordan, et al Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01057 (08/11/2019)
• 100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practice A Rueda-Martin, T Fowler, M Caulfield, et al. Annals of Oncology doi: 10.1093/annonc/mdz413.006 (07/11/2019)
• A retrospective analysis of 66 colorectal cancer cases from Guy’s and St Thomas’ (GSTT) Molecular Tumour Board M Kapiris, D Josephs, A Kulkarni, et al. Annals of Oncology doi: 10.1093/annonc/mdz413.034 (07/11/2019)
• Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. Sanderson S.C., Hill M., Searle B., et al. bmjopen doi: 10.1136/bmjopen-2019-029699 (03/11/2019)
• PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Antonio Rueda Martin, Ellen Thomas, Richard H. Scott, et al. Nature Genetics doi: 10.1038/s41588-019-0528-2 (01/11/2019)
• SEPATH: benchmarking the search for pathogens in human tissue whole genome sequence data leads to template pipelines. Gihawi A, Rallapalli G, Hurst R, et al. BMC Genome Biology doi: 10.1186/s13059-019-1819-8 (22/10/2019)
• Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results Gkikas Magiorkinis, Philippa C Matthews, Susan E Wallace, et al. Wellcome Open Research doi: 10.12688/wellcomeopenres.15499.1 (14/10/2019)
• Genomic medicine: time for health-care transformation Richard Scott, Mark Caulfield, Tom Fowler The Lancet doi: 10.1016/S0140-6736(19)31796-9. (05/08/2019)
• Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS Celine Lewis , Bao S. Loe, Chris Sidey‐Gibbons and Lyn S. Chitty  Genomics Education Programme Clinical Genetics doi: 10.1111/cge.13607 (19/07/2019)
• The new genomic medicine service and implications for patients Barwell J, Snape K, Wedderburn S Clinical Medicine doi: 10.7861/clinmedicine.19-4-273 (01/07/2019)
• Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare Katherine S Josephs, Alison Berner, Angela George, et al. Genomics Education Programme Clinical Medicine doi: 10.7861/clinmedicine.19-4-269 (01/07/2019)
• Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis Caroline Pearce, Emma Goettke, Nina Hallowell, et al. Genetics in Medicine doi: 10.1038/s41436-019-0579-x (12/06/2019)
• Point of View: An evolution from genetic counselling to genomic counselling. Middleton A, Patch C European Journal of Medical Genetics doi: 10.1016/j.ejmg.2019.04.010 (13/04/2019)
• Pursuing parity: genetic tests for psychiatric conditions in the UK National Health Service. Curtis D, Adlington K, Bhui KS The British Journal of Psychiatry doi: 10.1192/bjp.2019.48 (22/03/2019)
• Integrating Genomics into Healthcare: A Global Responsibility. Stark Z , Dolman L, Ozenberger B, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2018.11.014 (03/01/2019)
• The Network of Cancer Genes (NCG): a comprehensive catalogue of known and candidate cancer genes from cancer sequencing screens Dimitra Repana, , Joel Nulsen, Lisa Dressler, et al. Genomics Education Programme Genome Biology doi: 10.1186/s13059-018-1612-0 (03/01/2019)
• Hereditary Breast and Ovarian Cancer Testing in the Genomic Era. Greville-Heygate, S. L., Eccles, D. M. and Side, L. E. Genomics Education Programme JAMA Oncology doi: 10.1001/jamaoncol.2018.3034 (01/01/2019)

2018

• Fresh Tissue Handling Pathway For The 100,000 Genomes Project Pathology In Practice (01/12/2018)
• Fostering trust in healthcare: Participants’ experiences, views, and concerns about the 100,000 genomes project. Dheensa S, Lucassen A, Fenwick A European Journal of Medical Genetics doi: 10.1016/j.ejmg.2018.11.024. (29/11/2018)
• Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study. Sanderson S, Lewis C, Hill M, et al. GENETICS in MEDICINE doi: 10.1038/s41436-018-0310-3 (01/10/2018)
• DNA Sequencing Predicts 1st-Line Tuberculosis Drug Susceptibility Profiles Allix-Béguec C, Arandjelovic I, Bi L, et al. The New England Journal of Medicine doi: 10.1056/NEJMoa1800474 (26/09/2018)
• Challenges in implementing genomic medicine: the 100,000 Genomes Project
  Julian G. Barwell, Rory B.G. O’Sullivan, Laura K. Mansbridge, Joanna M. Lowry, Huw R. Dorkins
  J Transl Genet Genom 2018;2:13; https://doi.org/10.20517/jtgg.2018.17 (11/09/2018)
• A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.Evans DGR, van Veen EM, Byers HJ, et al. Genomics Education Programme American Journal of Human Genetics doi: 10.1016/j.ajhg.2018.07.002.(02/08/2018)
• What will follow the first hundred thousand genomes in the NHS?
  Malcolm Grant & John Paul Maytum Per Med 2018; doi:10.2217/pme-2018-0025 (20/06/2018)
• The 100 000 Genomes Project: feeding back to patients Celia Moss, Aaron Wernham The British Medical Journal doi: 10.1136/bmj.k2441 (05/06/2018)
• The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. Turnbull C, Scott RH, Thomas E, et al. The British Medical Journal doi: 10.1136/bmj.k1687. (24/04/2018)
• Tensions in ethics and policy created by National Precision Medicine Programs Jusaku Minari, Kyle B. Brothers, Michael Morrison Human Genomics doi: 10.1186/s40246-018-0151-9 (17/04/2018)
• Time for change: a new training programme for morpho-molecular pathologists? Moore DA, Young CA, Morris HT, et al. Journal of Clinical Pathology doi: 10.1136/jclinpath-2017-204821 (07/04/2018)
• Genetic counselling in the era of genomic medicine  Anna Middleton, Christine Patch British Medical Bulletin doi: 10.1093/bmb/ldy008 (02/04/2018)
• Genomics—an aid to diagnosis not a replacement
  Ingrid Torjesen BMJ 2018;360:k1267 (23/03/2018)
• Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project Sandi Dheensa, Gabrielle Samuel, Anneke M Lucassen & Bobbie Farsides Journal of Medical Ethics doi: 10.1136/medethics-2017-104588 (01/03/2018)
• Introducing whole-genome sequencing into routine cancer care: the Genomics England 100 000 Genomes Project C Turnbull Annals of Oncology doi: 10.1093/annonc/mdy054 (15/02/2018)

2017

• Genomics England’s implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom’s 100,000 Genomes project and the need for public support. Samuel GN, Farsides B Public Understanding of Science doi: 10.1177/0963662517747200 (14/12/2017)
• A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2017.10.009 (07/12/2017)
• The rise of the genome and personalised medicine
  Helen K Brittain, Richard Scott, Ellen Thomas Clin Med 2017;17(6):545–51 (01/12/2017)
• The growth of molecular diagnostics: Stratified Medicine Programme, the 100,000 Genomes Project and the future Rachel L Nelan, Mary-Kate Hayward, J Louise Jones Diagn Histopathol 2017;23(10):458–67 (31 October 2017)
• Public trust and ‘ethics review’ as a commodity: the case of Genomics England Limited and the UK’s 100,000 genomes project Gabrielle Natalie Samuel, Bobbie Farsides Medical Health Care and Philosophy doi: 10.1007%2Fs11019-017-9810-1 (30/10/2017)
• “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project. Ormondroyd E, Mackley MP, Blair E, et al. Genetic Medicine doi: 10.1038/gim.2017.157 (26/10/2017)
• The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. Samuel GN, Farsides B New Genet Society doi: 10.1080/14636778.2017.1370671 (02/09/2017)
• Commit to talks on patient data and public health
  Vivienne ParryNature 2017;548:137 (08 August 2017)
• HGVA: the Human Genome Variation Archive. Lopez J, Coll J, Haimel M, et al. Nucleic Acids Research doi: 10.1093/nar/gkx445. (23/05/2017)
• Public health and precision medicine share a goal. Vaithinathan AG & Asokan V Journal Evid Based Med doi: 10.1111/jebm.12239. (10/05/2017)
• From Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine. Lawler M & Maughan T The New Bioethics doi: 10.1080/20502877.2017.1314883 (23/04/2017)
• Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al. European Journal of Human Genetics doi: 10.1038/ejhg.2017.37 (22/04/2017)
• The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors Anna Middleton, Peter Marks, Anita Bruce, et al. European Journal of Human Genetics doi: 10.1038/ejhg.2017.28 (22/04/2017)
• Socialising the genome
  Vivienne Parry, Anna Middleton Lancet 2017;389:1603–4 (22/04/2017)
• The 100 000 Genomes Project: What it means for paediatrics Blanche H Griffin, Lyn S Chitty, & Maria Bitner-Glindzicz rchives of Disease in Childhood – Education and Practice doi: 10.1136/archdischild-2016-311029 (01/04/2017)
• Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy Rachel L Taylor, Gavin Arno, James A Poulter JAMA Ophthalmol 2017;135:339–47 (01/04/2017)
• Post-genomic behavioral genetics: From revolution to routine. Ashbrook DG, Mulligan MK, Williams RW Genes, Brain and Behaviour doi: 10.1111/gbb.12441 (17/03/2017)
• Single‐base substitutions in the CHM promoter as a cause of choroideremia Alina Radziwon, Gavin Arno, Dianna K. Wheaton, et al. Human Mutation doi: 10.1002/humu.23212 (08/03/2017)
• Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research. Granados Moreno P, Joly Y & Knoppers BM Front Med doi: 10.3389/fmed.2017.00003 (20/01/2017)
• Update: looking beyond the 100,000 Genome Project Susanne B Haga PERSONALIZED MEDICINE doi: 10.2217/pme-2016-0101 (19/01/2017)
• The Human Phenotype Ontology in 2017
  Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad et al. Nucleic Acids Res 2017;45:D865–D876 (04/01/2017)
• Predicting the Pathogenic Impact of Sequence Variation in the Human Genome. Rogers MF, Shihab HA, Ferlaino M, et al. Studies in Health Technology and Informatics doi: 10.3233/978-1-61499-753-5-91 (01/01/2017)

2016

• Pulmonary fibrosis in the era of stratified medicine Susan K Mathai, Chad A Newton, David A Schwartz & Christine Kim Garcia Thorax doi: 10.1136/thoraxjnl-2016-209172 (31/10/2016)
• EthicsandGenetics: organizational profile Edward Hockings PERSONALIZED MEDICINE doi: 10.2217/pme-2016-0049 (01/08/2016)
• Making sense of big data in health research: towards an EU action plan
  Charles Auffray, Rudi Balling, Inês Barroso et al.Genome Med 2016;8:71 (23/06/2016)
• Accelerating the Development and Validation of New Value-Based Diagnostics by Leveraging Biobanks. Schneider D Public Health Genomics doi: 10.1159/000446534. (02/06/2016)
• Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study. Warren-Gash C, Kroese M, Burton H & Pharoah P Hereditary Cancer Clinical Practice doi: 10.1186/s13053-016-0052-7 (01/06/2016)
• The 100 000 Genomes Project Mark Peplow The British Medical Journal doi: 10.1136/bmj.i1757 (13/04/2016)
• Phasing for medical sequencing using rare variants and large haplotype reference panels. Sharp K, Kretzschmar W, Delaneau O and Marchini J Bioinformatics doi: 10.1093/bioinformatics/btw065 (27/02/2016)
• Rare inherited skin diseases and the Genomics England 100 000 Genome Project. McGrath JA. The British Journal of Dermatology DOI: 10.1111/bjd.14362 (17/02/2016)
• The dawn of genomic medicine: the role of the 100,000 Genomes Project in breast care management Julian Barwell, Corrina Powell, Helen Harrison Breast Cancer Manag 2016;5:7–11 (08/02/2016)

2015

• Population genetic testing for cancer susceptibility: founder mutations to genomes. Foulkes WD,  Turnbull C & Knoppers BM Nature Reviews Clinical Oncology doi: 10.1038/nrclinonc.2015.173 (20/10/2015)
• The DNA of a nationVivien MarxNature 2015;524:503–5 (27/08/2015)
• Global implementation of genomic medicine: we are not alone Teri A. Manolio, Marc Abramowicz, Fahd Al-Mulla et al. Sci Transl Med 2015;7:290ps13 (03/06/2015)
• UK gears up to decode 100 000 genomes from NHS patients NayanahSiva The Lancet doi: 10.1016/S0140-6736(14)62453-3 (16/01/2015)
• Surgery in the era of the ‘omics revolution. Beggs AD & Dilworth MP The British Journal of Surgery doi: 10.1002/bjs.9722. (10/01/2015)

2013

• Genomes of 100,000 people will be sequenced to create an open access research resource Ingrid Torjesen The British Medical Journa doi: 10.1136/bmj.f6690  (07/11/2013)

Preprints

These are papers that have not yet been published and as such may not have undergone peer review.

• An intermediate effect size variant in UMOD confers risk for chronic kidney disease Eric Olinger, Céline Schaeffer, Kendrah Kidd, et al. medRxiv 10.1101/2021.09.27.21263789 (02/10/2021)
• Whole genome sequencing identifies multiple loci for critical illness caused by COVID-19 Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, et al. medRxiv 10.1101/2021.09.02.21262965 (08/09/2021)
• High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine K E Joyce, E Onabanjo, S Brownlow, et al. medRxiv 10.1101/2021.08.28.21262560 (01/09/2021)
• SARS-CoV-2 susceptibility and ACE2 gene variations within diverse ethnic backgrounds
• Nirmal Vadgama, Alexander Kreymerman, Jackie Campbell, et al. medRxiv doi: 10.1101/2021.08.18.21261804 (25/08/2021)

*The Genomics England Research Environment is supported by funding from the Medical Research Council as part of the UK Infrastructure for Large-scale Clinical Genomics Research grant. Further details of this grant are available here.

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