Professor Bill Newman MA FRCP PhD

Photograph of Bill Newman

Professor of Translational Genomic Medicine

Manchester Centre for Genomic Medicine

St Mary's Hospital

University of Manchester

Manchester M13 9WL



Bill is Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine at the University of Manchester and Honorary Consultant at Central Manchester University Hospitals NHS Foundation Trust

Director of the Manchester Genomic Medicine Centre for the 100,000 Genomes Project

Research Group Lead, Manchester Centre for Genomic Medicine, University of Manchester 2010-

Chair,  British Society of Genetic Medicine 2015-2017

Executive Board Member (2012- ) & Scientific Programme Committee, European Society of Human Genetics (2013-)

Lead for Genetics, Clinical Local Research Network 2010-

Memberships of Committees and Professional Bodies

American Society of Human Genetics

European Society of Human Genetics

British Society of Genetic Medicine



aUnderstanding the causes of inherited Rare Diseases

Using new technologies of microarrays and next generation sequencing, I have been working with clinical colleagues to define the genetic causes of a number of rare inherited conditions. With my colleagues, Drs Sid Banka and Simon Jones, we described a novel developmental disorder due to deficiency of an enzyme called dihydrofolate reductase (DHFR). We have an active research programme on a number of rare conditions including Perrault syndrome (deafness and ovarian failure), Leri's pleonosteosis, familial basal cell carcinoma, Burn McKeown syndrome, Filippi syndrome and Heimler syndrome. I am especially interested in expanding the use of this technology to patients where genetic testing has not been used to aid accurate diagnosis and clinical management.

b) Pharmacogenetics

I am interested in how patients respond to their medication.

I have worked on a number of studies to establish why some patients are less likely to respond to cancer treatment and some are more likely to experience severe drug reactions. I work closely with Prof Katherine Payne on the Health Economic aspects of pharmacogenetics and how tests can be introduced into clinical practice.

Recently I have been working on a study to determine why women respond differently to medication used in IVF treatment to stimulate the ovaries.

I work closely with the Genomic Diagnostic Laboratory at St Mary's Hospital to develop and provide tests e.g EGFR, KRAS, BRAF for patients with cancer to ensure that they get the right treatment. This work includes development of tests of panels of genetic variants.

c) Genetic basis of common diseases:

As a member of the UK IBD Genetic Consortium I have been studying how genetic variants increase susceptibility to common conditions like inflammatory bowel disease (IBD), especially in the South Asian populaion.

I work closely with Prof Gareth Evans in understanding how genetic variants are important in altering an individuals risks to developing breast cancer. I am working with Gareth on a large trial called PROCAS ( which is considering how genetic information can make the breast cancer screening programme more effective.

I have an interest in the genetics of megaloblastic anaemia, especially why some people have an increased risk of pernicious anaemia.

d) Genetics of Lower Urinary Tract Malformations

With Prof Adrian Woolf and colleagues we have identified that genetic changes in the genes called HPSE2 (heparanase 2) and LRIG2 result in the inherited condition called urofacial (Ochoa) syndrome. This condition is characterised by an unusual facial expression and bladder and bowel voiding problems. We are studying how these genes are important for bladder development and if it contributes to more common causes of bladder problems in children. This work has expanded to study a rare disoder called bladder exstrophy.

e) Genetics of Schwannoma/Meningioma Disease

With Gareth Evans and Dr Miriam Smith I have a program of work to understand the genetic basis of nerve tumours called schwannomas  and brain/spinal tumours called meningiomas. These are present in two inherited disorders - neurofibromatosis type 2 and schwannomatosis. 


Current Funding: Genesis UK, Kids Kidney Research, Children with Cancer, Action on Hearing Loss, Wellcome Trust


I am the Deputy Course Director of the newly formed MRes in Genetic Medicine

I am also on the steering committees of the MRes in Genetic Medicine and MSc in Genetic Counselling

I am advisor  to undergraduates on the MBChB programme  and teach students on this course through lectures, project options and SSC placements

I undertake teaching to postgraduate doctors as part of core medical training and to Specialist registrars in Genetic Medicine.

External Examiner for MRes Genetics University of Birmingham 2011-12

External Examiner Undergraduate Genetics University of Leeds 2009-12

External Examiner Undergraduate Genetics, University of Newcastle 2013-


I am a clinician scientist. I studied Medicine at Manchester University and completed professional training in adult medicine in the North West of England. I started training in Clinical Genetics in 1995 and undertook a PhD as a Wellcome Trust Clinical Training Fellow on the Genetics of Osteoarthritis in the Wellcome Trust Cell Matrix Centre. I moved to Toronto to undertake a two year Arthritis Society Fellowship with Professor Kathy Siminovitch where I worked on the genetic basis of rheumatoid arthritis and inflammatory bowel disease.

I took up my post as Clinical Senior Lecturer in Genetics at the University of Manchester and Honorary Consultant at St Mary's Hospital in 2004 and was awarded my Chair in 2013. My research has focussed on pharmacogenetics - defining the genetic factors that influence how patients respond to their medications. I have an interest in the use of different technologies to define disease causing genes and have used SNP arrays and next generation sequencing approaches to identify a number of novel genes responsible for a range of conditions. I have established a Genome Clinic to use next generation sequencing to diagnose conditions that it was previously challenging to correctly define. This is now leading to studies to discover specific treatments for inherited disorders.

Collaborators and affiliated staff

Prof Graeme Black

Prof Julian Davis

Prof Gareth Evans

Prof Katherine Payne

Dr Steve Roberts

Prof Adrian Woolf

Prof Mitch Dowsett (Institute of Cancer Research, London)

Prof Thomas Friedman (NIDCD, USA)

Dr Ray O'Keefe

Dr Wyatt Yue



  • Byers, H., Yvonne Wallis, Van Veen, E., Lalloo, F., Kim Reay, Smith, P., ... Evans, D. (2016). Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. European Journal of Human Genetics. DOI:10.1038/ejhg.2016.57
    . Publication link: 6026d56d-e76d-4f4c-a689-359afc62a0a7
  • Demain, L., Urquhart, J., O'Sullivan, J., O'Keefe, R., Bhaskar, S. S., Williams, S. G., ... Newman, W. (2016). Expanding the Genotypic Spectrum of Perrault syndrome.Clinical Genetics. DOI:10.1111/cge.12776
    . Publication link: 0c4c87cd-610a-4e1a-b0b8-c0ce3e49f183 | PubMed:26970254
  • Ellingford, J., Barton, S., Bhaskar, S., Williams, S. G., Sergouniotis, P. I., O'Sullivan, J., ... Black, G. (2016). Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Ophthalmology|Ophthalmology. DOI:10.1016/j.ophtha.2016.01.009
    . Publication link: df32d75f-2cb0-40c3-a2d0-5c7441e99dff | PubMed:26872967
  • Evans, D. G., Bowers, N., Burkitt Wright, E., Miles, E., S. Garg, Scott-Kitching, V., ... Huson, S. (2016). Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. EBioMedicine, 7, 212-220. DOI:10.1016/j.ebiom.2016.04.005
    . Publication link: 83f4f902-db58-4261-b108-ea20e849a91b
  • Urquhart, J. E., Beaman, G., Byers, H., Roberts, N. A., Chervinsky, E., O'Sullivan, J., ... Newman, W. G. (2016). DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clinical Genetics, 89(6), 724-7. DOI:10.1111/cge.12734
    . Publication link: 9167da0a-ae9b-4891-b746-30d8362ba4e0 | PubMed:26757254


  • Beleza-Meireles, A., Hart, R., Clayton-Smith, J., Oliveira, R., Reis, C. F., Venâncio, M., ... Saraiva, J. M. (2015). Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients.European journal of medical genetics, 58(9), 455-465. DOI:10.1016/j.ejmg.2015.07.003
    . Publication link: c3ea9303-5356-4546-be1f-8bcdee635c7e | PubMed:26206081
  • Calvete, O., Reyes, J., Zuñiga, S., Paumard-Hernández, B., Fernández, V., Bujanda, L., ... Benítez, J. (2015). Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.Human molecular genetics. DOI:10.1093/hmg/ddv054
    . Publication link: 31fd4455-e58c-45c0-9757-bbb6f8dc1d49 | PubMed:25678551
  • Coenen, M. J. H., de Jong, D. J., van Marrewijk, C. J., Derijks, L. J. J., Vermeulen, S. H., Wong, D. R., ... Franke, B. (2015). Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.Gastroenterology. DOI:10.1053/j.gastro.2015.06.002
    . Publication link: feb0023b-4050-44e3-816b-3594839326e3 | PubMed:26072396
  • Evans, L. T., Van Hoff, J., Hickey, W. F., Smith, M. J., Evans, G., Newman, W. G., & Bauer, D. F. (2015). SMARCE1 mutations in pediatric clear cell meningioma: case report.Journal of neurosurgery. Pediatrics, 16(3). DOI:10.3171/2015.3.PEDS14417
    . Publication link: 87785671-a670-4893-9b15-2bcaa94402f1 | PubMed:26114992
  • Higgs, J. E., Harkness, E. F., Bowers, N. L., Howard, E., Wallace, A. J., Lalloo, F., ... Evans, D. G. (2015). The BRCA2 polymorphic stop codon: stuff or nonsense?. Journal of medical genetics, 52(9). DOI:10.1136/jmedgenet-2015-103206
    . Publication link: 377809bb-77b7-42ec-9f36-47514b1df291 | PubMed:26041759
  • Lehne, B., Stone, K., Taylor, K., Knight, J., Papouli, E., Mirza, M. M., ... Henderson, P. (2015). Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.PLoS Genetics, 11(2). DOI:10.1371/journal.pgen.1004955
    . Publication link: b7c48444-2af5-4186-93d0-ce960b690865 | PubMed:25671699
  • Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., ... Weersma, R. K. (2015). Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.Nature Genetics, 47(9). DOI:10.1038/ng.3359
    . Publication link: 929a6118-c36c-4c33-906a-7aaacff743b2 | PubMed:26192919
  • Oftedal, B. E., Hellesen, A., Erichsen, M. M., Bratland, E., Vardi, A., Perheentupa, J., ... Husebye, E. S. (2015). Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.Immunity, 42(6). DOI:10.1016/j.immuni.2015.04.021
    . Publication link: 4ec626cd-302f-4373-90c3-136baa4654cf | PubMed:26084028
  • Oksenberg, J. R., Thomsen, I., Leslie, S., International_Inflammatory_Bowel_Disease_Genetics_Consortium, . U., Australia_and_New_Zealand_IBDGC, . U., Belgium_IBD_Genetics_Consortium, . U., ... Zhao, Z. Z. (2015). High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.Nature Genetics, 47(2). DOI:10.1038/ng.3176
    . Publication link: 210c4716-9ecd-4e3e-ad20-fe41172a6f9d | PubMed:25559196
  • Quinn, A. M., Hickson, N., Adaway, M., Priest, L., Jaeger, E., Udar, N., ... Blackhall, F. H. (2015). Diagnostic mutation profiling and validation of non small cell lung cancer small biopsy samples using a high throughput platform.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 10(5), 784-792. DOI:10.1097/JTO.0000000000000473
    . Publication link: 3435196d-d57f-43d3-9b82-d3b347d18f8a | PubMed:25634010
  • Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., ... Van Camp, G. (2015). Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.American Journal of Human Genetics, 97(4), 535-545. DOI:10.1016/j.ajhg.2015.08.011
    . Publication link: d41dc05d-203f-4819-81f7-35599333ba57 | PubMed:26387595
  • Sergouniotis, P. I., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., Black, G. C., Lovell, S. C., ... Clayton-Smith, J. (2015). Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Journal of Human Genetics, 60(4). DOI:10.1038/jhg.2014.122
    . Publication link: 0215176e-02be-4b6d-83f0-3f1cddcbf1ae | PubMed:25589041
  • Simon, M., Richard, E. M., Wang, X., Shahzad, M., Huang, V. H., Qaiser, T. A., ... Riazuddin, S. (2015). Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome.PLoS Genetics, 11(3). DOI:10.1371/journal.pgen.1005097
    . Publication link: 91f2cb22-f1f5-4a64-87cb-bb8afa6fb1f1 | PubMed:25807530
  • Smith, M. J., Isidor, B., Beetz, C., Williams, S. G., Bhaskar, S. S., Richer, W., ... Evans, D. G. (2015). Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology, 84(2), 141-147. DOI:10.1212/WNL.0000000000001129., 10.1212/WNL.0000000000001129
    . Publication link: a284d8f5-b965-4138-938c-b0ab83e8bb7b | PubMed:25480913
  • Urquhart, J. E., Williams, S. G., Bhaskar, S. S., Bowers, N., Clayton-Smith, J., & Newman, W. G. (2015). Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.Journal of Human Genetics. DOI:10.1038/jhg.2015.111
    . Publication link: cb43bb9e-ac11-4680-acb9-b24c3d571987 | PubMed:26377242
  • Watson, C. M., Crinnion, L. A., Gleghorn, L., Newman, W. G., Ramesar, R., Beighton, P., & Wallis, G. A. (2015). Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 105(7).
    . Publication link: 6e9dad05-860d-4412-922d-116802ef9baf | PubMed:26428751


  • Aftimos, S., Banka, S., Begleiter, M. L., Bilo, L., Blair, E., Burrage, L. C., ... Hennekam, R. C. (2014). DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.American journal of medical genetics. Part C, Seminars in medical genetics, 166C(3). DOI:10.1002/ajmg.c.31412
    . Publication link: 81b4b332-7449-4445-96c6-5c551a9f98eb | PubMed:25169651
  • Banka, S., Cain, S. A., Carim, S., Daly, S. B., Urquhart, J. E., Erdem, G., ... Newman, W. G. (2014). Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Annals of the Rheumatic Diseases, 74(6). DOI:10.1136/annrheumdis-2013-204309
    . Publication link: dbf7c90f-fb4d-4e41-84ca-f95fb7b6c479 | PubMed:24442880
  • Campeau, P. M., Kasperaviciute, D., Lu, J. T., Burrage, L. C., Kim, C., Hori, M., ... Sisodiya, S. M. (2014). The genetic basis of DOORS syndrome: An exome-sequencing study. The Lancet Neurology, 13(1), 44-58. DOI:10.1016/S1474-4422(13)70265-5
    . Publication link: 516a4de3-ad4b-4153-8407-c8b2f5d55648 | PubMed:24291220
  • Cerra, C., Oliver, J., Roberts, S. A., Horne, G., Newman, W. G., & Mohiyiddeen, L. (2014). A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.Human reproduction (Oxford, England), 29(12). DOI:10.1093/humrep/deu264
    . Publication link: d9ed167e-cd4f-494b-9239-7bced4123dce | PubMed:25336710
  • Daly, S. B., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., ... Girisha, K. M. (2014). Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis. Molecular Syndromology, 5(5), 218-228. DOI:10.1159/000365057
    . Publication link: 3115150c-4f5c-4b09-a9b2-0bfe83f27c62 | PubMed:25337069
  • Elliott, G. C., Gurtu, R., McCollum, C., Newman, W. G., & Wang, T. (2014). Foramen Ovale Closure Is a Process of Endothelial-to-Mesenchymal Transition Leading to Fibrosis.PLoS ONE, 9(9), [e107175]. DOI:10.1371/journal.pone.0107175
    . Publication link: eeb310dd-fd95-49c0-bf97-9a407facd46a | PubMed:25215881
  • Hussain, M. S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M. R., Sakakibara, S., ... Nürnberg, P. (2014). Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.American Journal of Human Genetics, 95(5). DOI:10.1016/j.ajhg.2014.10.008
    . Publication link: 99d43f57-4ce1-48e7-beeb-b63b3792423e | PubMed:25439729
  • Jones, B., Byers, H., Stewart Watson, J., & Newman, W. G. (2014). Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. Clinical Dysmorphology, 23(3), 95-97. DOI:10.1097/MCD.0000000000000043
    . Publication link: f0a30eb3-1923-44a5-b3ad-9ca959bd40b1 | PubMed:24878828
  • Mccabe, M., Smith, M. J., Beetz, C., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., ... Evans, D. G. R. (2014). Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(36). DOI:10.1200/JCO.2014.58.2569
    . Publication link: b08caf52-07fc-454b-b8ba-f90090a541b1 | PubMed:25403219
  • Newman, W. G., & Black, G. C. (2014). Delivery of a clinical genomics service.Genes, 5(4). DOI:10.3390/genes5041001
    . Publication link: 49695519-5f66-469c-9c4c-59e6dc979233 | PubMed:25383561
  • Newman, W., Chen, G. B., Lee, S. H., Brion, M. J. A., Montgomery, G. W., Wray, N. R., ... Visscher, P. M. (2014). Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Human Molecular Genetics, 23(17), 4710-4720. [ddu174]. DOI:10.1093/hmg/ddu174
    . Publication link: cb0950f2-1e45-422a-a044-7ff10459e873 | PubMed:24728037
  • Newman, W., Kennedy, N. A., Walker, A. W., Berry, S. H., Duncan, S. H., Farquarson, F. M., ... Hold, G. L. (2014). The impact of different DNA extraction kits and laboratories upon the assessment of human gut microbiota composition by 16S rRNA gene sequencing. PLoS ONE, 9(2), [e88982]. DOI:10.1371/journal.pone.0088982
    . Publication link: 3e15c1c7-deb6-43f5-a2ac-b60df4f53e32 | PubMed:24586470
  • Province, M. A., Goetz, M. P., Brauch, H., Flockhart, D. A., Hebert, J. M., Whaley, R., ... H, E. Z. (2014). CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-Analysis of Heterogeneous Study Populations. Clinical Pharmacology and Therapeutics, 95(2), 216-227. DOI:10.1038/clpt.2013.186
    . Publication link: 151c0946-6499-429b-be92-c028c137aa6b | PubMed:24060820
  • Roberts, N. A., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G., & Hilton, E. N. (2014). Heparanase 2, Mutated in urofacial syndrome, Mediates peripheral neural development in Xenopus. Human Molecular Genetics, 23(16), 4302-4314. [ddu147]. DOI:10.1093/hmg/ddu147
    . Publication link: b6caf3d0-fa54-4e36-b872-9e048fc8869f | PubMed:24691552
  • Smith, M. J., Wallace, A. J., Bennett, C., Hasselblatt, M., Elert-Dobkowska, E., Evans, L. T., ... Evans, D. G. (2014). Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.The Journal of pathology. DOI:10.1002/path.4427
    . Publication link: 29204cfb-4164-4ce3-92e2-f31370513599 | PubMed:25143307
  • Smith, M., Bholah, Z., Smith, M. J., Byers, H. J., Miles, E. K., Evans, D. G., & Newman, W. G. (2014). Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Familial Cancer, 13(3), 477-480. DOI:10.1007/s10689-014-9712-9
    . Publication link: 1762f803-e570-4565-ad73-9d56349576f6 | PubMed:24659465
  • Stuart, H. M., Roberts, N. A., Hilton, E. N., McKenzie, E. A., Daly, S. B., Hadfield, K. D., ... Group, U. K. V. U. R. S. (2014). Urinary Tract Effects of HPSE2 Mutations. J Am Soc Nephrol. DOI:10.1681/ASN.2013090961
    . Publication link: 503fe1e8-df4a-41a9-b8d7-c5528c0f6c1c | PubMed:25145936
  • Thompson, A. J., Newman, W. G., Elliott, R. A., Roberts, S. A., Tricker, K., & Payne, K. (2014). The cost-effectiveness of a pharmacogenetic test: A trial-based evaluation of TPMT genotyping for azathioprine. Value in Health, 17(1), 22-33. DOI:10.1016/j.jval.2013.10.007
    . Publication link: 8a184b18-1665-4ac5-a112-06cddcb1c239 | PubMed:24438714
  • Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., ... Strom, T. M. (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.American Journal of Human Genetics, 95(6). DOI:10.1016/j.ajhg.2014.10.014
    . Publication link: 69bb9b6b-e261-4ce8-9143-f0e1aa0f4201 | PubMed:25434003
  • Wong, N. A., Gonzalez, D., Salto-Tellez, M., Butler, R., Diaz-Cano, S. J., Ilyas, M., ... Walsh, S. V. (2014). RAS testing of colorectal carcinoma-a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.Journal of clinical pathology. DOI:10.1136/jclinpath-2014-202467
    . Publication link: 7a08eeea-1c97-4b93-9cbc-3b477c9576ff | PubMed:24996433
  • Woolf, A. S., Stuart, H. M., & Newman, W. G. (2014). Genetics of human congenital urinary bladder disease. Pediatr Nephrol, 29(3), 353-60. DOI:10.1007/s00467-013-2472-1
    . Publication link: 41dba4e3-75d7-479f-887d-90328ce50e7c | PubMed:23584850
  • Woolf, A. S., Stuart, H. M., Roberts, N. A., McKenzie, E. A., Hilton, E. N., & Newman, W. G. (2014). Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol, 29(4), 513-8. DOI:10.1007/s00467-013-2552-2
    . Publication link: 9df6c2d4-23ec-4091-8ebf-13b47f8298ca | PubMed:23832138
  • Yasar, B., Byers, H. J., Smith, M. J., Lear, J., Oudit, D., Bholah, Z., ... Evans, D. G. (2014). Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. European Journal of Human Genetics. DOI:10.1038/ejhg.2014.167
    . Publication link: 78ea8956-1d2f-4aba-8ac0-fb45c2ee6a9b | PubMed:25159867


  • Banka, S., & Newman, W. G. (2013). A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet Journal of Rare Diseases, 8(1), [84]. DOI:10.1186/1750-1172-8-84
    . Publication link: d82cb154-7a60-4af3-9f98-9959a8af2818 | PubMed:23758768
  • Banka, S., Wynn, R., Byers, H., Arkwright, P. D., & Newman, W. G. (2013). G6PC3 mutations cause non-syndromic severe congenital neutropenia. Molecular Genetics and Metabolism, 108(2), 138-141. DOI:10.1016/j.ymgme.2012.12.001
    . Publication link: dddad8cd-a255-49cb-bcfa-ffeba5e38956 | PubMed:23298686
  • Evans, D. G. R., Ingham, S. L., Buchan, I., Woodward, E. R., Byers, H., Howell, A., ... Lalloo, F. (2013). Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 22(12), 2269-2276. DOI:10.1158/1055-9965.EPI-13-0316-T
    . Publication link: 19a7eba8-a00c-4105-86f9-29a9fbab02b9 | PubMed:24285840
  • Evans, D. G. R., Wallace, A., & Newman, W. (2013). Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?. European Journal of Human Genetics, 21(7), 701-702. DOI:10.1038/ejhg.2012.264
    . Publication link: d6db34cf-d71a-44ee-bd3c-dc20e45d28cd | PubMed:23188050
  • Evans, G., Ingham, S., Warwick, J., Byers, H., Lalloo, F., Newman, W., & Evans, D. (2013). Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK. Clinical Genetics, 84(1), 37-42. DOI:10.1111/cge.12035
    . Publication link: 3b4272c9-78a6-4bf2-a7a7-b9fcfaa395d0 | PubMed:23050611
  • Evans, G., Ruark, E., Snape, K., Humburg, P., Loveday, C., Bajrami, I., ... Newman, W. (2013). Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature, 493(7432), 406-410. DOI:10.1038/nature11725
    . Publication link: eb2ba62f-d225-4363-91d9-5d4d8670c187 | PubMed:23242139
  • Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., ... Newman, W. G. (2013). Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. American Journal of Human Genetics, 92(4), 605-613. DOI:10.1016/j.ajhg.2013.02.013
    . Publication link: ee3718e3-9d25-4e36-8fd6-0fe8cc104895 | PubMed:23541340
  • Laitman, Y., Feng, B. J., Zamir, I. M., Weitzel, J. N., Duncan, P., Port, D., ... Friedman, E. (2013). Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. European Journal of Human Genetics, 21(2), 212-216. DOI:10.1038/ejhg.2012.124
    . Publication link: 4d4510a9-2af7-4d69-949d-d3c4eee6c88d | PubMed:22763381
  • Lee, J. C., Espéli, M., Anderson, C. A., Linterman, M. A., Pocock, J. M., Williams, N. J., ... Newman, W. (2013). Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway. Cell, 155(1), 57-69. DOI:10.1016/j.cell.2013.08.034
    . Publication link: ba7a093d-d238-4feb-a567-3511f0131639 | PubMed:24035192
  • Mohiyiddeen, L., Newman, W. G., Cerra, C., Horne, G., Mulugeta, B., Byers, H., ... Nardo, L. G. (2013). FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients. Reproductive BioMedicine Online, 27(3), 305-309. DOI:10.1016/j.rbmo.2013.06.005
    . Publication link: 93f8ea1a-74ea-404b-aa13-35dc61ae32de | PubMed:23876973
  • Mohiyiddeen, L., Newman, W. G., Cerra, C., McBurney, H., Mulugeta, B., Roberts, S. A., & Nardo, L. G. (2013). A common Asn680Ser polymorphism in the follicle-stimulating hormone receptor gene is not associated with ovarian response to gonadotropin stimulation in patients undergoing in vitro fertilization. Fertility and Sterility, 99(1), 149-155. DOI:10.1016/j.fertnstert.2012.08.037
    . Publication link: ebe4b3bd-d773-439a-98f7-c94b0f8e41ee | PubMed:22985950
  • Newman, W., Huertas-Vazquez, A., Nelson, C. P., Guo, X., Reinier, K., Uy-Evanado, A., ... Chugh, S. S. (2013). Novel Loci Associated with Increased Risk of Sudden Cardiac Death in the Context of Coronary Artery Disease. PLoS ONE, 8(4), [e59905]. DOI:10.1371/journal.pone.0059905
    . Publication link: 81ff8be1-16d1-48d8-9f79-2033d8a2cc0f | PubMed:23593153
  • Panagiotopoulou, N., Byers, H., Newman, W. G., & Bhatia, K. (2013). Spontaneous ovarian hyperstimulation syndrome: Case report, pathophysiological classification and diagnostic algorithm. European Journal of Obstetrics Gynecology and Reproductive Biology, 169(2), 143-148. DOI:10.1016/j.ejogrb.2013.03.004
    . Publication link: b0fcef48-be21-4f98-bd71-552282ae3acc | PubMed:23561021
  • Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., ... Evans, D. G. (2013). Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nature Genetics, 45(3), 295-298. DOI:10.1038/ng.2552
    . Publication link: 5988344b-15e4-45af-bb4f-1ddd54f7e2d2 | PubMed:23377182
  • Stuart, H. M., Roberts, N. A., Burgu, B., Daly, S. B., Urquhart, J. E., Bhaskar, S., ... Yalçınkaya, F. (2013). LRIG2 mutations cause urofacial syndrome. American Journal of Human Genetics, 92(2), 259-264. DOI:10.1016/j.ajhg.2012.12.002
    . Publication link: 1eeed1cd-c861-4218-ab86-7ce591e051e4 | PubMed:23313374
  • Zaki, A., Zaidi, A., Newman, W. G., & Garratt, C. J. (2013). Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy. Journal of Cardiovascular Electrophysiology, 24(9), 1051-1053. DOI:10.1111/jce.12142
    . Publication link: 06d17c9e-b5c4-4230-b12f-be4a80751e21 | PubMed:23577876



  • Anderson, C. A., Boucher, G., Lees, C. W., Franke, A., D'Amato, M., Taylor, K. D., ... Rioux, J. D. (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics, 43(3), 246-252. DOI:10.1038/ng.764
    . Publication link: 3a8a31f6-cebd-4e4e-b46a-efc19e0a8968 | PubMed:21297633
  • Banka, S., Blom, H. J., Walter, J., Aziz, M., Urquhart, J., Clouthier, C. M., ... Newman, W. G. (2011). Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. American Journal of Human Genetics, 88(2), 216-225. DOI:10.1016/j.ajhg.2011.01.004
    . Publication link: 6004c926-aec9-4f4f-a461-9452a0a26a75 | PubMed:21310276
  • Banka, S., Ryan, K., Thomson, W., & Newman, W. G. (2011). Pernicious anemia - Genetic insights. Autoimmunity Reviews, 10(8), 455-459. DOI:10.1016/j.autrev.2011.01.009
    . Publication link: f4b2e428-4d83-433e-94be-6d87450f9408 | PubMed:21296191
  • Banka, S., Wynn, R., & Newman, W. G. (2011). Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?. American Journal of Hematology, 86(2), 235-237. DOI:10.1002/ajh.21930
    . Publication link: a87b5212-13bc-4fc1-b354-39cb00e7307c
  • Ferraldeschi, R., & Newman, W. G. (2011). Pharmacogenetics and pharmacogenomics: A clinical reality. Annals of Clinical Biochemistry, 48(5), 410-417. DOI:10.1258/acb.2011.011084
    . Publication link: eb019033-0a6e-4ca2-bbb3-ca2879ef49a6 | PubMed:21733927
  • Fleeman, N., Saborido, C. M., Payne, K., Boland, A., Dickson, R., Dundar, Y., ... Walley, T. (2011). The clinical effectiveness and costeffectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: A systematic review. Health Technology Assessment, 15(33), 1-102. DOI:10.3310/hta15330
    . Publication link: 21f33436-c008-46af-8c97-59efe9efddb5 | PubMed:21906462
  • Jenkinson, E. M., Kingston, H., Urquhart, J., Khan, N., Melville, A., Swinton, M., ... Newman, W. G. (2011). Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.American journal of medical genetics. Part A, 155A(12), 2910-2915. DOI:10.1002/ajmg.a.34292
    . Publication link: bdfe1bd2-2c48-495c-9ed7-8d067eb6a96e | PubMed:22002932
  • Knappskog, S., Bjørnslett, M., Myklebust, L. M., Huijts, P. E. A., Vreeswijk, M. P., Edvardsen, H., ... Lønning, P. E. (2011). The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians. Cancer Cell, 19(2), 273-282. DOI:10.1016/j.ccr.2010.12.019
    . Publication link: 57c7bbca-f214-44e5-be00-f654ebdeca3a | PubMed:21316605
  • Newman, W. G., Payne, K., Tricker, K., Roberts, S. A., Fargher, E., Pushpakom, S., ... Ollier, W. E. R. (2011). A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: The TARGET study. Pharmacogenomics, 12(6), 815-826. DOI:10.2217/pgs.11.32
    . Publication link: 123db8fa-3bbf-4420-bfe7-57001a3883d3 | PubMed:21692613
  • Newman, W., Rivas, M. A., Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., ... Daly, M. J. (2011). Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature Genetics, 43(11), 1066-1073. DOI:10.1038/ng.952
    . Publication link: 0665739c-3d16-4039-9566-34541e5af1d2 | PubMed:21983784
  • Payne, K., Fargher, E. A., Roberts, S. A., Tricker, K., Elliott, R. A., Ratcliffe, J., & Newman, W. G. (2011). Valuing pharmacogenetic testing services: A comparison of patients' and health care professionals' preferences. Value in Health, 14(1), 121-134. DOI:10.1016/j.jval.2010.10.007
    . Publication link: 71c666af-0ca9-43d5-8d78-23fec74673ce | PubMed:21211494
  • Pushpakom, S. P., Gambhir, N., Latif, A., Hadfield, K. D., Campbell, S., & Newman, W. G. (2011). Exacerbation of hereditary warfarin resistance by azathioprine. Clinical and Applied Thrombosis/Hemostasis, 17(3), 293-296. DOI:10.1177/1076029609356427
    . Publication link: f05110e8-12ca-4d1e-b620-fead8050731b | PubMed:20211925
  • Rifai, A. A., Prasad, N., Shuttleworth, E., McBurney, H., Pushpakom, S., Robinson, A., ... Campbell, S. (2011). Natural history of azathioprine-associated lymphopenia in inflammatory bowel disease patients: A prospective observational study. European Journal of Gastroenterology and Hepatology, 23(2), 153-158. DOI:10.1097/MEG.0b013e32834233a2
    . Publication link: db3d1b4e-bace-4dad-80de-f4b1fe12d41b | PubMed:21164349
  • Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., ... Newman, W. (2011). Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genetics, 7(1), [e1001273]. DOI:10.1371/journal.pgen.1001273
    . Publication link: 5ed69e06-bfd0-4a1a-b8f6-63ebfc697467 | PubMed:21249183
  • Thompson, A. M., Johnson, A., Quinlan, P., Hillman, G., Fontecha, M., Bray, S. E., ... Newman, W. G. (2011). Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy. Breast Cancer Research and Treatment, 125(1), 279-287. DOI:10.1007/s10549-010-1139-x
    . Publication link: 8795234d-6ed3-4c11-add7-7c7516d321c0 | PubMed:20809362
  • Weber, S., Thiele, H., Mir, S., Toliat, M. R., Sozeri, B., Reutter, H., ... Woolf, A. S. (2011). Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome. American Journal of Human Genetics, 89(5), 668-674. DOI:10.1016/j.ajhg.2011.10.007
    . Publication link: 0bf7f33c-0436-46bf-8a4d-ef8433120bc6 | PubMed:22077972


  • Newman, W. G. (2010). Pharmacogenetics: Making cancer treatment safer and more effective. Netherlands: Springer Netherlands. DOI:10.1007/978-90-481-8618-1
    . Publication link: b28a9f6a-718f-4c39-9c0f-2b5ef80861a8
  • Aung, K. L., Board, R. E., Ellison, G., Donald, E., Ward, T., Clack, G., ... Dive, C. (2010). Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours. HUGO Journal, 4(1-4), 11-21. DOI:10.1007/s11568-011-9149-2
    . Publication link: c5ead0a3-361f-4c88-af49-8e873f9fa08e | PubMed:22132062
  • Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J., Yeganeh, S., Yacobovich, J., ... Shalev, S. (2010). Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. European Journal of Human Genetics, 19(1), 18-22. DOI:10.1038/ejhg.2010.136
    . Publication link: b7e0ea24-3165-47a2-9247-da7fca25830c | PubMed:20717171
  • Banka, S., Newman, W. G., Özgül, R. K., & Dursun, A. (2010). Mutations in the G6PC3 gene cause Dursun syndrome. American Journal of Medical Genetics, Part A, 152(10), 2609-2611. DOI:10.1002/ajmg.a.33615
    . Publication link: b0753622-c107-4d38-87e1-34ab206affd2 | PubMed:20799326
  • Banka, S., Roberts, R., Plews, D., & Newman, W. G. (2010). Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia. Journal of Pediatric Hematology/Oncology, 32(4), 319-322. DOI:10.1097/MPH.0b013e3181d74719
    . Publication link: 25bf8618-ebd1-47ae-98bd-dc207e031085 | PubMed:20404749
  • Bergqvist, J., Latif, A., Roberts, S. A., Hadfield, K. D., Lalloo, F., Howell, A., ... Newman, W. G. (2010). RASSF1A polymorphism in familial breast cancer. Familial Cancer, 9(3), 263-265. DOI:10.1007/s10689-010-9335-8
    . Publication link: 035b7643-8312-4e1a-bc42-9c0dcf1791ff | PubMed:20361264
  • Cotterill, L., Payne, D., Levinson, S., McLaughlin, J., Wesley, E., Feeney, M., ... Newman, W. G. (2010). Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease.Canadian journal of gastroenterology = Journal canadien de gastroenterologie, 24(5).
    . Publication link: ea189970-e5fc-4494-9763-af64ac314a81 | PubMed:20485703
  • Craddock, N., Hurles, M. E., Cardin, N., Pearson, R. D., Plagnol, V., Robson, S., ... Donnelly, P. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720. DOI:10.1038/nature08979
    . Publication link: b94fb048-f1ee-42d2-b9df-f0a9854d562f | PubMed:20360734
  • Daly, S., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R., Lewis, M., ... Newman, W. G. (2010). Mutations in HPSE2 Cause Urofacial Syndrome. American Journal of Human Genetics, 86(6), 963-969. DOI:10.1016/j.ajhg.2010.05.006
    . Publication link: c049bfec-7bfa-427c-8360-1171aed9e5fc | PubMed:20560210
  • Evans, G., Latif, A., McBurney, H. J., Roberts, S. A., Lalloo, F., Howell, A., ... Newman, W. G. (2010). Breast cancer susceptibility variants alter risk in familial ovarian cancer. Familial Cancer, 9(4), 503-506. DOI:10.1007/s10689-010-9349-2
    . Publication link: b0084af6-3607-4ada-b03a-e5c4f9a26420
  • Franke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., ... Parkes, M. (2010). Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genetics, 42(12), 1118-1125. DOI:10.1038/ng.717
    . Publication link: 05bb2283-3819-4ced-86fe-8ac577f1c9b3 | PubMed:21102463
  • Hadfield, K. D., Smith, M. J., Trump, D., Newman, W. G., & Evans, D. G. (2010). SMARCB1 mutations are not a common cause of multiple meningiomas. Journal of Medical Genetics, 47(8), 567-568. DOI:10.1136/jmg.2009.075721
    . Publication link: a4e8560f-120b-45d8-bf36-7a101898229b | PubMed:20472658
  • Hadfield, K. D., Smith, M. J., Urquhart, J. E., Wallace, A. J., Bowers, N. L., King, A. T., ... Evans, D. G. (2010). Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. Oncogene, 29(47), 6216-6221. DOI:10.1038/onc.2010.363
    . Publication link: bb04f303-7699-4bf7-83b7-bd9ba51f4f68 | PubMed:20729918
  • Hakooz, N., Arafat, T., Payne, D., Ollier, W., Pushpakom, S., Andrews, J., & Newman, W. (2010). Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population. European Journal of Clinical Pharmacology, 66(10), 999-1003. DOI:10.1007/s00228-010-0826-1
    . Publication link: d61c00d4-d0da-4eaa-9304-7ffb2542f078 | PubMed:20521035
  • Higgs, J. E., Payne, K., Roberts, C., & Newman, W. G. (2010). Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications?. Pharmacogenomics, 11(2), 177-188. DOI:10.2217/pgs.09.155
    . Publication link: a46ac1ba-cba6-4bd4-a868-c6623a24d5f1 | PubMed:20136357
  • Higgs, J., Gambhir, N., Ramsden, S. C., Poulton, K., & Newman, W. G. (2010). Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories. Genetic Testing and Molecular Biomarkers, 14(1), 121-125. DOI:10.1089/gtmb.2009.0156
    . Publication link: 106a7269-3de6-4a9e-9074-bf1b661389fb | PubMed:20039783
  • Latif, A., Hadfield, K. D., Roberts, S. A., Shenton, A., Lalloo, F., Black, G. C. M., ... Newman, W. G. (2010). Breast cancer susceptibility variants alter risks in familial disease. Journal of Medical Genetics, 47(2), 126-131. DOI:10.1136/jmg.2009.067256
    . Publication link: f7093ba0-7411-41ca-a5c2-f83bca373c26 | PubMed:19617217
  • Perogamvros, I., Underhill, C., Henley, D. E., Hadfield, K. D., Newman, W. G., Ray, D. W., ... Trainer, P. J. (2010). Novel corticosteroid-binding globulin variant that lacks steroid binding activity. Journal of Clinical Endocrinology and Metabolism, 95(10), E142-E150. DOI:10.1210/jc.2010-0746
    . Publication link: 84fafa35-f518-4fe3-9e3f-fb2f202b737a | PubMed:20610591
  • Shabaruddin, F. H., Elliott, R. A., Valle, J. W., Newman, W. G., & Payne, K. (2010). Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom. British Journal of Cancer, 103(3), 315-323. DOI:10.1038/sj.bjc.6605766
    . Publication link: 2d42b101-3409-4609-a903-85d5b5b3b6b4 | PubMed:20661248
  • Smith, M. J., Hadfield, K. D., Ramsden, R. T., Rutherford, S. A., King, A. T., Newman, W. G., & Evans, D. G. (2010). Isolated unilateral vestibular schwannomas do not harbor HRAS mutations. American Journal of Medical Genetics, Part A, 152(6), 1586-1587. DOI:10.1002/ajmg.a.33409
    . Publication link: c22305ce-7556-4387-a991-90922a9f68d9 | PubMed:20503341
  • Spiegel, R., Cliffe, S. T., Buckley, M. F., Crow, Y. J., Urquhart, J., Horovitz, Y., ... Shalev, S. A. (2010). Expanding the clinical spectrum of SLC29A3 gene defects. European Journal of Medical Genetics, 53(5), 309-313. DOI:10.1016/j.ejmg.2010.06.012
    . Publication link: 801d0e38-35d1-4d6c-92d4-d4e53d672736 | PubMed:20619369
  • Cunningham, P., Shabaruddin, F. H., Elliott, R. A., Valle, J. W., Newman, W. G., & Payne, K. (2010). Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom. In British Journal of Cancer|Br. J. Cancer. (Vol. 103, pp. 315-323). Brussels: European Commission. DOI:10.1038/sj.bjc.6605766
    . Publication link: 27c152f6-3a1e-49e5-a902-215f602cd3a2
  • Ferraldeschi, R., Howell, S. J., Thompson, A. M., & Newman, W. G. (2010). Avoidance of CYP2D6 inhibitors in patients receiving tamoxifen. Journal of Clinical Oncology, 28(29), e584-e585. DOI:10.1200/JCO.2010.30.1887
    . Publication link: 2d090eef-b25b-42b5-9c06-a57ffa6d3d8b
  • Shabaruddin, F. H., Elliott, R. A., Valle, J. W., Newman, W. G., & Payne, K. (2010). Reply: Guesstimates are not good enough for determining what is happening in routine care. British Journal of Cancer, 103(12), 1887-1888. DOI:10.1038/sj.bjc.6605999
    . Publication link: 81800893-54be-4f95-80bc-3f9e5b5cb1df


  • Bagul, A., Pushpakom, S., Balachander, S., Newman, W. G., & Siriwardena, A. (2009). The SPINK1 N34S variant is associated with acute pancreatitis. European Journal of Gastroenterology and Hepatology, 21(4), 485. DOI:10.1097/MEG.0b013e3283218645
    . Publication link: 41eff251-0381-409e-90a7-a8424b31ab47
  • Barrett, J. C., Lee, J. C., Lees, C. W., Prescott, N. J., Anderson, C. A., Phillips, A., ... Strachan, D. P. (2009). Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nature Genetics, 41(12), 1330-1334. DOI:10.1038/ng.483
    . Publication link: cdb3b437-b733-4232-9d14-4e476b6f146f | PubMed:19915572
  • Chun, Y. L., Merryweather-Clarke, A. T., Viprakasit, V., Chinthammitr, Y., Srichairatanakool, S., Limwongse, C., ... Robson, K. J. H. (2009). Iron overload in the Asian community. Blood, 114(1), 20-25. DOI:10.1182/blood-2009-01-199109
    . Publication link: dec5607a-94f5-438c-a348-707823ff8901 | PubMed:19342478
  • Gurwitz, D., Rodríguez-Antona, C., Payne, K., Newman, W., Gisbert, J. P., de Mesa, E. G., & Ibarreta, D. (2009). Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain. European Journal of Human Genetics, 17(8), 991-998. DOI:10.1038/ejhg.2009.10
    . Publication link: 26626e12-80ab-40a2-a908-575f4cb405a8 | PubMed:19223932
  • Newman, W. G., Zhang, Q., Liu, X., Amos, C. I., & Siminovitch, K. A. (2009). Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population. Journal of Clinical Gastroenterology, 43(5), 444-447. DOI:10.1097/MCG.0b013e318168bdf0
    . Publication link: 33bab376-a5b0-45f2-9dc3-d738baeae37f
  • Payne, K., Newman, W. G., Gurwitz, D., Ibarreta, D., & Phillips, K. A. (2009). TPMT testing in azathioprine: A 'cost-effective use of healthcare resources'?. Personalized Medicine, 6(1), 103-113. DOI:10.2217/17410541.6.1.103
    . Publication link: 6d0e857d-e3d7-4a1b-90f5-d627caee46f4
  • Walker, E. J., Hirschfield, G. M., Xu, C., Lu, Y., Liu, X., Lu, Y., ... Siminovitch, K. A. (2009). CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population. Arthritis and Rheumatism, 60(4), 931-937. DOI:10.1002/art.24412
    . Publication link: b738fd0d-8a30-4ccc-9ebf-2b0d0b8b2aa2 | PubMed:19333938


  • Browning, B. L., Annese, V., Barclay, M. L., Bingham, S. A., Brand, S., Büning, C., ... Witt, H. (2008). Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts. Journal of Medical Genetics, 45(1), 36-42. DOI:10.1136/jmg.2007.050773
    . Publication link: c0cdba0b-8414-4a1a-9c84-34f5c5a10152
  • Gurwitz, D., & Newman, W. (2008). Re: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: A modeling analysis. Journal of the National Cancer Institute, 100(18), 1331. DOI:10.1093/jnci/djn269
    . Publication link: 450db787-3e1a-46f1-be8e-43e953ad3118
  • Hadfield, K. D., Newman, W. G., Bowers, N. L., Wallace, A., Bolger, C., Colley, A., ... Evans, D. G. R. (2008). Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. Journal of Medical Genetics, 45(6), 332-339. DOI:10.1136/jmg.2007.056499
    . Publication link: 886d8903-b4cb-4c20-865a-a34ae04dd337 | PubMed:18285426
  • Hennies, H. C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., ... Mundlos, S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12), 1410-1412. DOI:10.1038/ng.252
    . Publication link: 8b873079-3336-47a7-a602-0f6d73d7286d | PubMed:18997784
  • Higgs, J. E., Andrews, J., Gurwitz, D., Payne, K., & Newman, W. (2008). Pharmacogenetics education in British medical schools. Genomic Medicine, 2(3-4), 101-105. DOI:10.1007/s11568-009-9032-6
    . Publication link: 3886f3c4-e582-48b8-aa16-49f23af077ff | PubMed:19363698
  • Newman, W. G., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., ... Black, G. C. M. (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. American Journal of Medical Genetics, Part A, 146(23), 3034-3037. DOI:10.1002/ajmg.a.32564
    . Publication link: 0ded6df3-0693-49ea-92ff-cedeebe90fbb | PubMed:19006212
  • Newman, W. G., Hadfield, K. D., Latif, A., Roberts, S. A., Shenton, A., McHague, C., ... Evans, D. G. (2008). Impaired tamoxifen metabolism reduces survival in familial breast cancer patients. Clinical Cancer Research, 14(18), 5913-5918. DOI:10.1158/1078-0432.CCR-07-5235
    . Publication link: edd784cc-4a33-4dd0-a833-7b0b83e74f2a
  • Payne, K., & Newman, W. (2008). Removing barriers to a clinical pharmacogenetics service. Personalized Medicine, 5(5), 471-480. DOI:10.2217/17410541.5.5.471
    . Publication link: 7687c09b-5274-4110-b1a6-1a637ca809a2


  • Chowdhury, J., Kagiala, G. V., Pushpakom, S., Lauzon, J., Makin, A., Atrazhev, A., ... Pilarski, L. M. (2007). Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine s-methyltranferase gene to evaluate risk for adverse drug events. Journal of Molecular Diagnostics, 9(4), 521-529. DOI:10.2353/jmoldx.2007.070014
    . Publication link: b3e5cf86-d6b0-4bb1-849c-91d4d9f0484d | PubMed:17690215
  • Fargher, E. A., Eddy, C., Newman, W., Qasim, F., Tricker, K., Elliott, R. A., & Payne, K. (2007). Patients' and healthcare professionals' views on pharmacogenetic testing and its future delivery in the NHS. Pharmacogenomics, 8(11), 1511-1519. DOI:10.2217/14622416.8.11.1511
    . Publication link: 7f5b564d-de13-41d1-9f26-a8472bfbfff5 | PubMed:18034616
  • Newman, W. G., Hamilton, S., Ayres, J., Sanghera, N., Smith, A., Gaunt, L., ... Clayton-Smith, J. (2007). Array comparative genomic hybridization for diagnosis of developmental delay - An exploratory cost-consequences analysis. Clinical Genetics, 71(3), 254-259. DOI:10.1111/j.1399-0004.2007.00756.x
    . Publication link: 34d5089b-28e4-4cc1-9487-321857c295d5 | PubMed:17309648
  • Payne, K., Newman, W., Fargher, E., Tricker, K., Bruce, I. N., & Ollier, W. E. R. (2007). TPMT testing in rheumatology: Any better than routine monitoring?. Rheumatology, 46(5), 727-729. DOI:10.1093/rheumatology/kel427
    . Publication link: 2ede8cff-5314-4591-9644-d6ee482eb350
  • Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., ... Crow, Y. J. (2007). Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. American Journal of Human Genetics, 80(4), 811-815. DOI:10.1086/513443
    . Publication link: bb4c713e-cbac-4872-b57d-5a8ace54f34b | PubMed:17357087


  • Blackhall, F. H., Howell, S., & Newman, B. (2006). Pharmacogenetics in the management of breast cancer - Prospects for individualised treatment. Familial Cancer, 5(2), 151-157. DOI:10.1007/s10689-005-3241-5
    . Publication link: 68627ef1-5ea4-4e48-863f-c780465e58e8
  • Newman, W. G., Gu, X., Wintle, R. F., Liu, X., Van Oene, M., Amos, C. I., & Siminovitch, K. A. (2006). DLG5 variants contribute to Crohn disease risk in a Canadian population. Human Mutation, 27(4), 353-358. DOI:10.1002/humu.20301
    . Publication link: dfc12d21-e050-4a8d-8694-fd81c60ab4b6
  • Newman, W. G., Zhang, Q., Liu, X., Walker, E., Ternan, H., Owen, J., ... Siminovitch, K. A. (2006). Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population. Arthritis and Rheumatism, 54(12), 3820-3827. DOI:10.1002/art.22270
    . Publication link: ffafe4d5-0bbb-403a-9535-08b23c0ba0f9 | PubMed:17133579
  • Therrien, J., Rambihar, S., Newman, B., Siminovitch, K., Langleben, D., Webb, G., & Granton, J. (2006). Eisenmenger syndrome and atrial septal defect: Nature or nurture?. The Canadian journal of cardiology, 22(13), 1133-1136.
    . Publication link: 15e16960-0c47-4151-8ef7-c902b777fea2
  • Amos, C. I., Witte, J. S., & Newman, W. G. (2006). Identifying causal genetic factors. In Principles of Molecular Medicine|Principles of Molec. Med.. (pp. 19-26). Humana Press. DOI:10.1007/978-1-59259-963-9_3
    . Publication link: d0a78994-284a-4873-bdc1-39a88a7949f8


  • Fargher, E. A., Tricker, K., Newman, W. G., Qasim, F. F., Andrews, J., Elliott, R. A., ... Olier, W. E. R. (2005). Research Governance: What is reasonable protection?. BMJ Rapid Response.
    . Publication link: 7c3dab8e-b45a-40d1-83bc-d6f1622c1845
  • Ho, P., Bruce, I. N., Silman, A., Symmons, D., Newman, B., Young, H., ... Barton, A. (2005). Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. Arthritis and Rheumatism, 52(11), 3596-3602. DOI:10.1002/art.21393
    . Publication link: af385c21-9987-4acd-a736-3ee4adf15f1b
  • Kennedy, J., Jackson, G., Ramsden, S., Taylor, J., Newman, W., Wright, M. J., ... Briggs, M. D. (2005). COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. European Journal of Human Genetics, 13(5), 547-555. DOI:10.1038/sj.ejhg.5201374
    . Publication link: 8e37b1e3-7834-4776-85f5-59481c4396b2 | PubMed:15756302
  • Liu, X., Newman, W. G., van Oene, M., Wintle, R. F., Yazdanpanah, M., Gu, X., ... Siminovitch, K. A. (2005). Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.Arthritis Rheum, 52(7).
    . Publication link: 02aa717e-e7e4-48bb-9689-a61122f474f4
  • McCann, E., Kaye, S. B., Newman, W., Norbury, G., Black, G. C. M., & Ellis, I. H. (2005). Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. American Journal of Medical Genetics, 138(3), 278-281. DOI:10.1002/ajmg.a.30944
    . Publication link: 1fbe246d-f072-4213-8fa2-4ce405c022db
  • Newman, B., Cescon, D., Woo, A., Rakowski, H., Erikkson, M. J., Sole, M., ... Siminovitch, K. A. (2005). W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy [1]. Molecular Genetics and Metabolism, 84(4), 374-375. DOI:10.1016/j.ymgme.2004.11.013
    . Publication link: f27e1117-6689-4a8f-876c-d3a9a547a48a
  • Newman, B., Gu, X., Wintle, R., Cescon, D., Yazdanpanah, M., Liu, X., ... Siminovitch, K. A. (2005). A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology, 128(2), 260-269. DOI:10.1053/j.gastro.2004.11.056
    . Publication link: 22de0dd7-e381-4dde-9ed6-f6dde17f4cad
  • Newman, B., Wintle, R. F., Van Oene, M., Yazdanpanah, M., Owen, J., Johnson, B., ... Siminovitch, K. A. (2005). SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population. Arthritis and Rheumatism, 52(2), 425-429. DOI:10.1002/art.20854
    . Publication link: a1274501-3b5a-4046-a0f5-971515ac113b


  • Newman, B., Cescon, D., Domenchini, A., & Siminovitch, K. A. (2004). CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease [2]. Journal of Investigative Dermatology, 122(4), 1054-1056. DOI:10.1111/j.0022-202X.2004.22430.x
    . Publication link: a5633f6d-98a1-4d49-9434-64ad6ef42677
  • Newman, B., Silverberg, M. S., Gu, X., Zhang, Q., Lazaro, A., Steinhart, A. H., ... Siminovitch, K. (2004). CARD15 and HLA DRB1 Alleles Influence Susceptibility and Disease Localization in Crohn's Disease. American Journal of Gastroenterology, 99(2), 306-315. DOI:10.1111/j.1572-0241.2004.04038.x
    . Publication link: 3e94bc4c-f123-4317-a9e3-310fe1bb283c
  • Peltekova, V. D., Wintle, R. F., Rubin, L. A., Amos, C. I., Huang, Q., Gu, X., ... Siminovitch, K. A. (2004). Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nature Genetics, 36(5), 471-475. DOI:10.1038/ng1339
    . Publication link: decb2033-bb11-4671-b70f-33e4eaa8022a



  • White, A. H., Watson, R. E. B., Newman, B., Freemont, A. J., & Wallis, G. A. (2002). Annexin VIII is differentially expressed by chondrocytes in the mammalian growth plate during endochondral ossification and in osteoarthritic cartilage. Journal of Bone and Mineral Research, 17(10), 1851-1858. DOI:10.1359/jbmr.2002.17.10.1851
    . Publication link: b4cfbad5-0053-41f3-b859-383b6449ab45


  • Newman, B., Gigout, L. I., Sudre, L., Grant, M. E., & Wallis, G. A. (2001). Coordinated expression of matrix Gla protein is required during endochondral ossification for chondrocyte survival. Journal of Cell Biology, 154(3), 659-666. DOI:10.1083/jcb.200106040
    . Publication link: 58768e3f-b275-4259-930f-08858ac5d15f


  • Canfield, A. E., Doherty, M. J., Kelly, V., Newman, B., Farrington, C., Grant, M. E., & Boot-Handford, R. P. (2000). Matrix Gla protein is differentially expressed during the deposition of a calcified matrix by vascular pericytes. FEBS Letters, 487(2), 267-271. DOI:10.1016/S0014-5793(00)02363-2
    . Publication link: 5503b6c6-2e13-4607-8739-3d4f29e8c4a1 | PubMed:11150522
  • Newman, B., Donnai, D., & Briggs, M. D. (2000). Molecular diagnosis is important to confirm suspected pseudoachondroplasia. Journal of Medical Genetics, 37(1), 64-65.
    . Publication link: 9b626f83-8ef6-4440-b499-c50fede6422c | PubMed:0010691412