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



  • Beleza-Meireles, A., Hart, R., Clayton-Smith, J., Oliveira, R., Reis, C., Venâncio, M., Ramos, F., Sá, J., Ramos, L., Cunha, E., Pires, L., Carreira, I., Scholey, R., Wright, R., Urquhart, J., Briggs, T., Kerr, B., Kingston, H., Metcalfe, K., Donnai, D., Newman, W., Saraiva, J. & Tassabehji, M (2015). Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients. Eur J Med Genet, 58(9), 455-65. eScholarID:274946 | PMID:26206081 | DOI:10.1016/j.ejmg.2015.07.003
  • Calvete, O., Reyes, J., Zuñiga, S., Paumard-Hernández, B., Fernández, V., Bujanda, L., Rodriguez-Pinilla, M., Palacios, J., Heine-Suñer, D., Banka, S., Newman, W., Cañamero, M., Pritchard, D. & Benítez, J (2015). Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour. Hum Mol Genet, eScholarID:263160 | PMID:25678551 | DOI:10.1093/hmg/ddv054
  • Coenen, M., de Jong, D., van Marrewijk, C., Derijks, L., Vermeulen, S., Wong, D., Klungel, O., Verbeek, A., Hooymans, P., Peters, W., Te Morsche, R., Newman, W., Scheffer, H., Guchelaar, H. & Franke, B (2015). Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease. Gastroenterology, eScholarID:267799 | PMID:26072396 | DOI:10.1053/j.gastro.2015.06.002
  • Evans, L., Van Hoff, J., Hickey, W., Smith, M., Evans, D., Newman, W. & Bauer, D (2015). SMARCE1 mutations in pediatric clear cell meningioma: case report. J Neurosurg Pediatr, 1-5. eScholarID:267797 | PMID:26114992 | DOI:10.3171/2015.3.PEDS14417
  • Goyette, P., Boucher, G., Mallon, D., Ellinghaus, E., Jostins, L., Huang, H., Ripke, S., Gusareva, E., Annese, V., Hauser, S., Oksenberg, J., Thomsen, I., Leslie, S., , , , , , , , , , , , , , , , , Daly, M., Van Steen, K., Duerr, R., Barrett, J., McGovern, D., Schumm, L., Traherne, J., Carrington, M., Kosmoliaptsis, V., Karlsen, T., Franke, A. & Rioux, J (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. Nat Genet, 47(2), 172-9. eScholarID:263162 | PMID:25559196 | DOI:10.1038/ng.3176
  • Higgs, J., Harkness, E., Bowers, N., Howard, E., Wallace, A., Lalloo, F., Newman, W. & Evans, D (2015). The BRCA2 polymorphic stop codon: stuff or nonsense? J Med Genet, eScholarID:267798 | PMID:26041759 | DOI:10.1136/jmedgenet-2015-103206
  • Liu, J., van Sommeren, S., Huang, H., Ng, S., Alberts, R., Takahashi, A., Ripke, S., Lee, J., Jostins, L., Shah, T., Abedian, S., Cheon, J., Cho, J., Daryani, N., Franke, L., Fuyuno, Y., Hart, A., Juyal, R., Juyal, G., Kim, W., Morris, A., Poustchi, H., Newman, W., Midha, V., Orchard, T., Vahedi, H., Sood, A., Sung, J., Malekzadeh, R., Westra, H., Yamazaki, K., Yang, S., , , , , Barrett, J., Franke, A., Alizadeh, B., Parkes, M., B K, T., Daly, M., Kubo, M., Anderson, C. & Weersma, R (2015). Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet, 47(9), 979-86. eScholarID:274947 | PMID:26192919 | DOI:10.1038/ng.3359
  • Oftedal, B., Hellesen, A., Erichsen, M., Bratland, E., Vardi, A., Perheentupa, J., Kemp, E., Fiskerstrand, T., Viken, M., Weetman, A., Fleishman, S., Banka, S., Newman, W., Sewell, W., Sozaeva, L., Zayats, T., Haugarvoll, K., Orlova, E., Haavik, J., Johansson, S., Knappskog, P., Løvås, K., Wolff, A., Abramson, J. & Husebye, E (2015). Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity, 42(6), 1185-96. eScholarID:267796 | PMID:26084028 | DOI:10.1016/j.immuni.2015.04.021
  • Prescott, N., Lehne, B., Stone, K., Lee, J., Taylor, K., Knight, J., Papouli, E., Mirza, M., Simpson, M., Spain, S., Lu, G., Fraternali, F., Bumpstead, S., Gray, E., Amar, A., Bye, H., Green, P., Chung-Faye, G., Hayee, B., Pollok, R., Satsangi, J., Parkes, M., Barrett, J., Mansfield, J., Sanderson, J., Lewis, C., Weale, M., Schlitt, T., Mathew, C. & . (2015). Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes. PLoS Genet, 11(2), e1004955. eScholarID:263163 | PMID:25671699 | DOI:10.1371/journal.pgen.1004955
  • Quinn, A., Hickson, N., Adaway, M., Priest, L., Jaeger, E., Udar, N., Keeling, C., Kamieniorz, M., Dive, C., Wallace, A., Byers, R., Newman, W., Nonaka, D. & Blackhall, F (2015). Diagnostic mutation profiling and validation of non small cell lung cancer small biopsy samples using a high throughput platform. J Thorac Oncol, eScholarID:263161 | PMID:25634010 | DOI:10.1097/JTO.0000000000000473
  • Ratbi, I., Falkenberg, K., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J., Chandler, K., Williams, S., Roberts, N., El Alloussi, M., Black, G., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S., Cooper, N., Ong, K., Smith, C., Inglehearn, C., Mighell, A., Elcock, C., Poulter, J., Tischkowitz, M., Davies, S., Sefiani, A., Mironov, A., Newman, W., Waterham, H. & Van Camp, G (2015). Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet, 97(4), 535-545. eScholarID:274948 | PMID:26387595 | DOI:10.1016/j.ajhg.2015.08.011
  • Sergouniotis, P., Urquhart, J., Williams, S., Bhaskar, S., Black, G., Lovell, S., Whitby, D., Newman, W. & Clayton-Smith, J (2015). Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. J Hum Genet, eScholarID:263159 | PMID:25589041 | DOI:10.1038/jhg.2014.122
  • Simon, M., Richard, E., Wang, X., Shahzad, M., Huang, V., Qaiser, T., Potluri, P., Mahl, S., Davila, A., Nazli, S., Hancock, S., Yu, M., Gargus, J., Chang, R., Al-Sheqaih, N., Newman, W., Abdenur, J., Starr, A., Hegde, R., Dorn, T., Busch, A., Park, E., Wu, J., Schwenzer, H., Flierl, A., Florentz, C., Sissler, M., Khan, S., Li, R., Guan, M., Friedman, T., Wu, D., Procaccio, V., Riazuddin, S., Wallace, D., Ahmed, Z., Huang, T. & Riazuddin, S (2015). Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome. PLoS Genet, 11(3), e1005097. eScholarID:263164 | PMID:25807530 | DOI:10.1371/journal.pgen.1005097
  • Urquhart, J., Williams, S., Bhaskar, S., Bowers, N., Clayton-Smith, J. & Newman, W (2015). Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. J Hum Genet, eScholarID:274945 | PMID:26377242 | DOI:10.1038/jhg.2015.111
  • Watson, C., Crinnion, L., Gleghorn, L., Newman, W., Ramesar, R., Beighton, P. & Wallis, G (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. S Afr Med J, 105(7), 558-63. eScholarID:274944 | PMID:26428751


  • Banka, S., Cain, S., Carim, S., Daly, S., Urquhart, J., Erdem, G., Harris, J., Bottomley, M., Donnai, D., Kerr, B., Kingston, H., Superti-Furga, A., Unger, S., Ennis, H., Worthington, J., Herrick, A., Merry, C., Yue, W., Kielty, C. & Newman, W (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. Ann Rheum Dis, eScholarID:218989 | PMID:24442880 | DOI:10.1136/annrheumdis-2013-204309
  • Bholah, Z., Smith, M., Byers, H., Miles, E., Evans, D. & Newman, W (2014). Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Fam Cancer, eScholarID:222787 | PMID:24659465 | DOI:10.1007/s10689-014-9712-9
  • Campeau, et al (2014). The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol, 13(1), 44-58. eScholarID:218988 | PMID:24291220 | DOI:10.1016/S1474-4422(13)70265-5
  • Campeau, P., Hennekam, R. & . (2014). DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet, 166C(3), 327-32. eScholarID:242419 | PMID:25169651 | DOI:10.1002/ajmg.c.31412
  • Cerra, C., Oliver, J., Roberts, S., Horne, G., Newman, W. & Mohiyiddeen, L (2014). A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation. Hum Reprod, 29(12), 2832-7. eScholarID:242417 | PMID:25336710 | DOI:10.1093/humrep/deu264
  • Chen, G., Lee, S., Brion, M., Montgomery, G., Wray, N., Radford-Smith, G., Visscher, P. & . (2014). Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Hum Mol Genet, 23(17), 4710-20. eScholarID:236601 | PMID:24728037 | DOI:10.1093/hmg/ddu174
  • Daly, S., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. & Girisha, K (2014). Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. Mol Syndromol, 5(5), 218-28. eScholarID:242422 | PMID:25337069 | DOI:10.1159/000365057
  • Elliott, G., Gurtu, R., McCollum, C., Newman, W. & Wang, T (2014). Foramen Ovale Closure Is a Process of Endothelial-to-Mesenchymal Transition Leading to Fibrosis. PLoS One, 9(9), e107175. eScholarID:236596 | PMID:25215881 | DOI:10.1371/journal.pone.0107175
  • Hussain, M., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A., Newman, W. & Nürnberg, P (2014). Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome. Am J Hum Genet, 95(5), 622-32. eScholarID:242423 | PMID:25439729 | DOI:10.1016/j.ajhg.2014.10.008
  • Jones, B., Byers, H., Watson, J. & Newman, W (2014). Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. Clin Dysmorphol, 23(3), 95-7. eScholarID:236597 | PMID:24878828 | DOI:10.1097/MCD.0000000000000043
  • Kennedy, N., Walker, A., Berry, S., Duncan, S., Farquarson, F., Louis, P., Thomson, J., , , Satsangi, J., Flint, H., Parkhill, J., Lees, C. & Hold, G (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. eScholarID:222786 | PMID:24586470 | DOI:10.1371/journal.pone.0088982
  • Newman, W. & Black, G (2014). Delivery of a clinical genomics service. Genes (Basel), 5(4), 1001-17. eScholarID:242421 | PMID:25383561 | DOI:10.3390/genes5041001
  • Roberts, N., Woolf, A., Stuart, H., Thuret, R., McKenzie, E., Newman, W. & Hilton, E (2014). Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. Hum Mol Genet, eScholarID:222785 | PMID:24691552 | DOI:10.1093/hmg/ddu147
  • Smith, M., Beetz, C., Williams, S., Bhaskar, S., O'Sullivan, J., Anderson, B., Daly, S., Urquhart, J., Bholah, Z., Oudit, D., Cheesman, E., Kelsey, A., McCabe, M., Newman, W. & Evans, D (2014). Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. J Clin Oncol, eScholarID:242420 | PMID:25403219 | DOI:10.1200/JCO.2014.58.2569
  • Smith, M., Isidor, B., Beetz, C., Williams, S., Bhaskar, S., Richer, W., O'Sullivan, J., Anderson, B., Daly, S., Urquhart, J., Fryer, A., Rustad, C., Mills, S., Samii, A., du Plessis, D., Halliday, D., Barbarot, S., Bourdeaut, F., Newman, W. & Evans, D (2014). Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology, eScholarID:242424 | PMID:25480913 | DOI:10.1212/WNL.0000000000001129
  • Smith, M., Wallace, A., Bennett, C., Hasselblatt, M., Elert-Dobkowska, E., Evans, L., Hickey, W., van Hoff, J., Bauer, D., Lee, A., Hevner, R., Beetz, C., du Plessis, D., Kilday, J., Newman, W. & Evans, D (2014). Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas. J Pathol, eScholarID:236600 | PMID:25143307 | DOI:10.1002/path.4427
  • Stuart, et al (2014). Urinary Tract Effects of HPSE2 Mutations. J Am Soc Nephrol, eScholarID:236602 | PMID:25145936 | DOI:10.1681/ASN.2013090961
  • Thompson, A., Newman, W., Elliott, R., Roberts, S., Tricker, K. & Payne, K (2014). The Cost-Effectiveness of a Pharmacogenetic Test: A Trial-Based Evaluation of TPMT Genotyping for Azathioprine. Value Health, 17(1), 22-33. eScholarID:218990 | PMID:24438714 | DOI:10.1016/j.jval.2013.10.007
  • Wieczorek, et al (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. Am J Hum Genet, 95(6), 698-707. eScholarID:242418 | PMID:25434003 | DOI:10.1016/j.ajhg.2014.10.014
  • Wong, N., Gonzalez, D., Salto-Tellez, M., Butler, R., Diaz-Cano, S., Ilyas, M., Newman, W., Shaw, E., Taniere, P. & Walsh, S (2014). RAS testing of colorectal carcinoma-a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. J Clin Pathol, eScholarID:236598 | PMID:24996433 | DOI:10.1136/jclinpath-2014-202467
  • Yasar, B., Byers, H., Smith, M., Lear, J., Oudit, D., Bholah, Z., Roberts, S., Newman, W. & Evans, D (2014). Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. Eur J Hum Genet, eScholarID:236599 | PMID:25159867 | DOI:10.1038/ejhg.2014.167


  • Banka, S. & Newman, W (2013). A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis, 8, 84. eScholarID:212100 | PMID:23758768 | DOI:10.1186/1750-1172-8-84
  • Banka, S., Wynn, R., Byers, H., Arkwright, P. & Newman, W (2013). G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab, 108(2), 138-41. eScholarID:187478 | PMID:23298686 | DOI:10.1016/j.ymgme.2012.12.001
  • Evans, D., Ingham, S., Buchan, I., Woodward, E., Byers, H., Howell, A., Maher, E., Newman, W. & 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 Epidemiol Biomarkers Prev, eScholarID:214170 | PMID:24285840 | DOI:10.1158/1055-9965.EPI-13-0316-T
  • Huertas-Vazquez, A., Nelson, C., Guo, X., Reinier, K., Uy-Evanado, A., Teodorescu, C., Ayala, J., Jerger, K., Chugh, H., , , Braund, P., Deloukas, P., Hall, A., Balmforth, A., Jones, M., Taylor, K., Pulit, S., Newton-Cheh, C., Gunson, K., Jui, J., Rotter, J., Albert, C., Samani, N. & Chugh, S (2013). Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease. PLoS One, 8(4), e59905. eScholarID:212099 | PMID:23593153 | DOI:10.1371/journal.pone.0059905
  • Jenkinson, E., Rehman, A., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R., Drummond, M., Khan, S., Naeem, M., Rauf, B., Billington, N., Schultz, J., Urquhart, J., Lee, M., Berry, A., Hanley, N., Mehta, S., Cilliers, D., Clayton, P., Kingston, H., Smith, M., Warner, T., Black, G., Trump, D., Davis, J., Ahmad, W., Leal, S., Riazuddin, S., King, M., Friedman, T. & Newman, W (2013). Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease. Am J Hum Genet, 92(4), 605-13. eScholarID:194535 | PMID:23541340 | DOI:10.1016/j.ajhg.2013.02.013
  • Lee, J., Espéli, M., Anderson, C., Linterman, M., Pocock, J., Williams, N., Roberts, R., Viatte, S., Fu, B., Peshu, N., Hien, T., Phu, N., Wesley, E., Edwards, C., Ahmad, T., Mansfield, J., Gearry, R., Dunstan, S., Williams, T., Barton, A., Vinuesa, C., , , Parkes, M., Lyons, P. & Smith, K (2013). Human SNP Links Differential Outcomes in Inflammatory and Infectious Disease to a FOXO3-Regulated Pathway. Cell, 155(1), 57-69. eScholarID:212103 | PMID:24035192 | DOI:10.1016/j.cell.2013.08.034
  • Mohiyiddeen, L., Newman, W., Cerra, C., Horne, G., Mulugeta, B., Byers, H., Roberts, S. & Nardo, L (2013). FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients. Reprod Biomed Online, 27(3), 305-9. eScholarID:212102 | PMID:23876973 | DOI:10.1016/j.rbmo.2013.06.005
  • Panagiotopoulou, N., Byers, H., Newman, W. & Bhatia, K (2013). Spontaneous ovarian hyperstimulation syndrome: case report, pathophysiological classification and diagnostic algorithm. Eur J Obstet Gynecol Reprod Biol, eScholarID:194534 | PMID:23561021 | DOI:10.1016/j.ejogrb.2013.03.004
  • Province, et al (2013). CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-analysis of Heterogeneous Study Populations. Clin Pharmacol Ther, eScholarID:212101 | PMID:24060820 | DOI:10.1038/clpt.2013.186
  • Ruark, et al (2013). Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature, 493(7432), 406-10. eScholarID:187482 | PMID:23242139 | DOI:10.1038/nature11725
  • Smith, M., O'Sullivan, J., Bhaskar, S., Hadfield, K., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. & Evans, D (2013). Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nat Genet, 45(3), 295-298. eScholarID:187479 | PMID:23377182 | DOI:10.1038/ng.2552
  • Stuart, H., Roberts, N., Burgu, B., Daly, S., Urquhart, J., Bhaskar, S., Dickerson, J., Mermerkaya, M., Silay, M., Lewis, M., Olondriz, M., Gener, B., Beetz, C., Varga, R., Gülpınar, O., Süer, E., Soygür, T., Ozçakar, Z., Yalçınkaya, F., Kavaz, A., Bulum, B., Gücük, A., Yue, W., Erdogan, F., Berry, A., Hanley, N., McKenzie, E., Hilton, E., Woolf, A. & Newman, W (2013). LRIG2 Mutations Cause Urofacial Syndrome. Am J Hum Genet, 92(2), 259-264. eScholarID:187481 | PMID:23313374 | DOI:10.1016/j.ajhg.2012.12.002
  • Woolf, A., Stuart, H. & Newman, W (2013). Genetics of human congenital urinary bladder disease. Pediatr Nephrol, eScholarID:194533 | PMID:23584850 | DOI:10.1007/s00467-013-2472-1
  • Woolf, A., Stuart, H., Roberts, N., McKenzie, E., Hilton, E. & Newman, W (2013). Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol, eScholarID:212104 | PMID:23832138 | DOI:10.1007/s00467-013-2552-2
  • Zaki, A., Zaidi, A., Newman, W. & Garratt, C (2013). Advantages of a Subcutaneous Implantable Cardioverter-Defibrillator in LAMP2 Hypertrophic Cardiomyopathy. J Cardiovasc Electrophysiol, eScholarID:194536 | PMID:23577876 | DOI:10.1111/jce.12142


  • , , Maller, J., McVean, G., Byrnes, J., Vukcevic, D., Palin, K., Su, Z., Howson, J., Auton, A., Myers, S., Morris, A., Pirinen, M., Brown, M., Burton, P., Caulfield, M., Compston, A., Farrall, M., Hall, A., Hattersley, A., Hill, A., Mathew, C., Pembrey, M., Satsangi, J., Stratton, M., Worthington, J., Craddock, N., Hurles, M., Ouwehand, W., Parkes, M., Rahman, N., Duncanson, A., Todd, J., Kwiatkowski, D., Samani, N., Gough, S., McCarthy, M., Deloukas, P. & Donnelly, P (2012). Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet, 44(12), 1294-301. eScholarID:187477 | PMID:23104008 | DOI:10.1038/ng.2435
  • Boztug, K., Rosenberg, P., Dorda, M., Banka, S., Moulton, T., Curtin, J., Rezaei, N., Corns, J., Innis, J., Avci, Z., Tran, H., Pellier, I., Pierani, P., Fruge, R., Parvaneh, N., Mamishi, S., Mody, R., Darbyshire, P., Motwani, J., Murray, J., Buchanan, G., Newman, W., Alter, B., Boxer, L., Donadieu, J., Welte, K. & Klein, C (2012). Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr, 160(4), 679-683.e2. eScholarID:176941 | PMID:22050868 | DOI:10.1016/j.jpeds.2011.09.019
  • Caldwell, J., Moreton, N., Khan, N., Kerzin-Storrar, L., Metcalfe, K., Newman, W. & Garratt, C (2012). The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated. Heart, 98(8), 631-6. eScholarID:176927 | PMID:22505462 | DOI:10.1136/heartjnl-2011-300924
  • Callard, A., Newman, W. & Payne, K (2012). Delivering a pharmacogenetic service: is there a role for genetic counselors? J Genet Couns, 21(4), 527-35. eScholarID:176932 | PMID:22052043 | DOI:10.1007/s10897-011-9415-4
  • Camp, N., Parry, M., Knight, S., Abo, R., Elliott, G., Rigas, S., Balasubramanian, S., Reed, M., McBurney, H., Latif, A., Newman, W., Cannon-Albright, L., Evans, D. & Cox, A (2012). Fine-mapping CASP8 risk variants in breast cancer. Cancer Epidemiol Biomarkers Prev, 21(1), 176-81. eScholarID:176934 | PMID:22056502 | DOI:10.1158/1055-9965.EPI-11-0845
  • Evans, D., Wallace, A. & Newman, W (2012). Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders? Eur J Hum Genet, eScholarID:187475 | PMID:23188050 | DOI:10.1038/ejhg.2012.264
  • Evans, D., Warwick, J., Astley, S., Stavrinos, P., Sahin, S., Ingham, S., McBurney, H., Eckersley, B., Harvie, M., Wilson, M., Beetles, U., Warren, R., Hufton, A., Sergeant, J., Newman, W., Buchan, I., Cuzick, J. & Howell, A (2012). Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention. Cancer Prev Res (Phila), 5(7), 943-51. eScholarID:176922 | PMID:22581816 | DOI:10.1158/1940-6207.CAPR-11-0458
  • Ferraldeschi, R., Arnedos, M., Hadfield, K., A'Hern, R., Drury, S., Wardley, A., Howell, A., Evans, D., Roberts, S., Smith, I., Newman, W. & Dowsett, M (2012). Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients. Breast Cancer Res Treat, 133(3), 1191-8. eScholarID:176942 | PMID:22418701 | DOI:10.1007/s10549-012-2010-z
  • Ferraldeschi, R., Latif, A., Clarke, R., Spence, K., Ashton, G., O'Sullivan, J., Evans, D., Howell, A. & Newman, W (2012). Lack of caveolin-1 (P132L) somatic mutations in breast cancer. Breast Cancer Res Treat, eScholarID:156852 | PMID:22310961 | DOI:10.1007/s10549-012-1981-0
  • Hadfield, K. & Newman, W (2012). Pharmacogenetics of aromatase inhibitors. Pharmacogenomics, 13(6), 699-707. eScholarID:176926 | PMID:22515612 | DOI:10.2217/pgs.12.28
  • Howell, A., Astley, S., Warwick, J., Stavrinos, P., Sahin, S., Ingham, S., McBurney, H., Eckersley, B., Harvie, M., Wilson, M., Beetles, U., Warren, R., Hufton, A., Sergeant, J., Newman, W., Buchan, I., Cuzick, J. & Evans, D (2012). Prevention of Breast Cancer in the Context of a National Breast Screening Programme. J Intern Med, eScholarID:156853 | PMID:22292490 | DOI:10.1111/j.1365-2796.2012.02525.x
  • Ingham, S., Warwick, J., Byers, H., Lalloo, F., Newman, W. & Evans, D (2012). 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. Clin Genet, eScholarID:187476 | PMID:23050611 | DOI:10.1111/cge.12035
  • Jostins, et al (2012). Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature, 491(7422), 119-24. eScholarID:187480 | PMID:23128233 | DOI:10.1038/nature11582
  • Laitman, Y., Feng, B., Zamir, I., Weitzel, J., Duncan, P., Port, D., Thirthagiri, E., Teo, S., Evans, G., Latif, A., Newman, W., Gershoni-Baruch, R., Zidan, J., Shimon-Paluch, S., Goldgar, D. & Friedman, E (2012). Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. Eur J Hum Genet, eScholarID:176919 | PMID:22763381 | DOI:10.1038/ejhg.2012.124
  • Mohiyiddeen, L., Newman, W., Cerra, C., McBurney, H., Mulugeta, B., Roberts, S. & Nardo, L (2012). 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. Fertil Steril, eScholarID:176920 | PMID:22985950 | DOI:10.1016/j.fertnstert.2012.08.037
  • Mohiyiddeen, L., Newman, W., McBurney, H., Mulugeta, B., Roberts, S. & Nardo, L (2012). Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers. Fertil Steril, 97(3), 677-81. eScholarID:156851 | PMID:22265040 | DOI:10.1016/j.fertnstert.2011.12.040
  • Mohiyiddeen, L., Salim, S., Mulugeta, B., McBurney, H., Newman, W., Pemberton, P. & Nardo, L (2012). PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms. Gynecol Endocrinol, 28(5), 375-7. eScholarID:176921 | PMID:22429116 | DOI:10.3109/09513590.2011.633649
  • Newman, W (2012). Pharmacogenetics: transforming clinical medicine. J R Coll Physicians Edinb, 42(3), 244-7. eScholarID:176937 | PMID:22953321 | DOI:10.4997/JRCPE.2012.312
  • Oliveira-Cunha, M., Hadfield, K., Siriwardena, A. & Newman, W (2012). EGFR and KRAS mutational analysis and their correlation to survival in pancreatic and periampullary cancer. Pancreas, 41(3), 428-34. eScholarID:176924 | PMID:22422135 | DOI:10.1097/MPA.0b013e3182327a03
  • Sullivan, W., Evans, D., Newman, W., Ramsden, S., Scheffer, H. & Payne, K (2012). Developing National Guidance on Genetic Testing for Breast Cancer Predisposition: The Role of Economic Evidence? Genet Test Mol Biomarkers, eScholarID:156850 | PMID:22313048 | DOI:10.1089/gtmb.2011.0236
  • Yousef, A., Bulatova, N., Newman, W., Hakooz, N., Ismail, S., Qusa, H., Zahran, F., Anwar Ababneh, N., Hasan, F., Zaloom, I., Khayat, G., Al-Zmili, R., Naffa, R. & Al-Diab, O (2012). Allele and genotype frequencies of the polymorphic cytochrome P450 genes (CYP1A1, CYP3A4, CYP3A5, CYP2C9 and CYP2C19) in the Jordanian population. Mol Biol Rep, 39(10), 9423-33. eScholarID:176923 | PMID:22722998 | DOI:10.1007/s11033-012-1807-5


  • Al Rifai, A., Prasad, N., Shuttleworth, E., McBurney, H., Pushpakom, S., Robinson, A., Newman, W. & Campbell, S (2011). Natural history of azathioprine-associated lymphopenia in inflammatory bowel disease patients: a prospective observational study. Eur J Gastroenterol Hepatol, 23(2), 153-8. eScholarID:132941 | PMID:21164349 | DOI:10.1097/MEG.0b013e32834233a2
  • Anderson, et al (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet, 43(3), 246-52. eScholarID:132940 | PMID:21297633 | DOI:10.1038/ng.764
  • Banka, S., Blom, H., Walter, J., Aziz, M., Urquhart, J., Clouthier, C., Rice, G., de Brouwer, A., Hilton, E., Vassallo, G., Will, A., Smith, D., Smulders, Y., Wevers, R., Steinfeld, R., Heales, S., Crow, Y., Pelletier, J., Jones, S. & Newman, W (2011). Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency. American journal of human genetics, 88(2), 216. eScholarID:132912 | PMID:21310276 | DOI:10.1016/j.ajhg.2011.01.004
  • Banka, S., Chervinsky, E., Newman, W., Crow, Y., Yeganeh, S., Yacobovich, J., Donnai, D. & Shalev, S (2011). Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet, 19(1), 18-22. eScholarID:101730 | PMID:20717171 | DOI:10.1038/ejhg.2010.136
  • Banka, S., Ryan, K., Thomson, W. & Newman, W (2011). Pernicious anemia - genetic insights. Autoimmun Rev, 10(8), 455-9. eScholarID:132923 | PMID:21296191 | DOI:10.1016/j.autrev.2011.01.009
  • Camp, N., Parry, M., Knight, S., Abo, R., Elliott, G., Rigas, S., Balasubramanian, S., Reed, M., McBurney, H., Latif, A., Newman, W., Cannon-Albright, L., Evans, D. & Cox, A (2011). Fine-Mapping CASP8 Risk Variants in Breast Cancer. Cancer Epidemiol Biomarkers Prev, eScholarID:143009 | PMID:22056502 | DOI:10.1158/1055-9965.EPI-11-0845
  • Ferraldeschi, R. & Newman, W (2011). Pharmacogenetics and pharmacogenomics: a clinical reality. Ann Clin Biochem, 48(Pt 5), 410-7. eScholarID:132921 | PMID:21733927 | DOI:10.1258/acb.2011.011084
  • Fleeman, N., Martin Saborido, C., Payne, K., Boland, A., Dickson, R., Dundar, Y., Fernández Santander, A., Howell, S., Newman, W., Oyee, J. & Walley, T (2011). The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review. Health Technol Assess, 15(33), 1-102. eScholarID:132946 | PMID:21906462 | DOI:10.3310/hta15330
  • Jenkinson, E., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S., De Michele, G., Conway, G., Cilliers, D., Moreton, N., Davis, J., Trump, D. & Newman, W (2011). Perrault syndrome: further evidence for genetic heterogeneity. J Neurol, eScholarID:143011 | PMID:22037954 | DOI:10.1007/s00415-011-6285-5
  • Jenkinson, E., Kingston, H., Urquhart, J., Khan, N., Melville, A., Swinton, M., Crow, Y., Davis, J., Trump, D. & Newman, W (2011). Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3. Am J Med Genet A, 155A(12), 2910-5. eScholarID:143013 | PMID:22002932 | DOI:10.1002/ajmg.a.34292
  • Knappskog, S., Bjørnslett, M., Myklebust, L., Huijts, P., Vreeswijk, M., Edvardsen, H., Guo, Y., Zhang, X., Yang, M., Ylisaukko-Oja, S., Alhopuro, P., Arola, J., Tollenaar, R., van Asperen, C., Seynaeve, C., Staalesen, V., Chrisanthar, R., Løkkevik, E., Salvesen, H., Evans, D., Newman, W., Lin, D., Aaltonen, L., Børresen-Dale, A., Tell, G., Stoltenberg, C., Romundstad, P., Hveem, K., Lillehaug, J., Vatten, L., Devilee, P., Dørum, A. & Lønning, P (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), 273-82. eScholarID:132929 | PMID:21316605 | DOI:10.1016/j.ccr.2010.12.019
  • Newman, W., Payne, K., Tricker, K., Roberts, S., Fargher, E., Pushpakom, S., Alder, J., Sidgwick, G., Payne, D., Elliott, R., Heise, M., Elles, R., Ramsden, S., Andrews, J., Houston, J., Qasim, F., Shaffer, J., Griffiths, C., Ray, D., Bruce, I., Ollier, W. & . (2011). A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: the TARGET study. Pharmacogenomics, 12(6), 815-26. eScholarID:132902 | PMID:21692613 | DOI:10.2217/pgs.11.32
  • Payne, K., Fargher, E., Roberts, S., Tricker, K., Elliott, R., Ratcliffe, J. & Newman, W (2011). Valuing pharmacogenetic testing services: a comparison of patients' and health care professionals' preferences. Value Health, 14(1), 121-34. eScholarID:132931 | PMID:21211494 | DOI:10.1016/j.jval.2010.10.007
  • Pushpakom, S., Gambhir, N., Latif, A., Hadfield, K., Campbell, S. & Newman, W (2011). Exacerbation of hereditary warfarin resistance by azathioprine. Clin Appl Thromb Hemost, 17(3), 293-6. eScholarID:132907 | PMID:20211925 | DOI:10.1177/1076029609356427
  • Rivas, M., Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C., Boucher, G., Ripke, S., Ellinghaus, D., Burtt, N., Fennell, T., Kirby, A., Latiano, A., Goyette, P., Green, T., Halfvarson, J., Haritunians, T., Korn, J., Kuruvilla, F., Lagacé, C., Neale, B., Lo, K., Schumm, P., Törkvist, L., , , , , , , Dubinsky, M., Brant, S., Silverberg, M., Duerr, R., Altshuler, D., Gabriel, S., Lettre, G., Franke, A., D'Amato, M., McGovern, D., Cho, J., Rioux, J., Xavier, R. & Daly, M (2011). Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet, 43(11), 1066-73. eScholarID:143006 | PMID:21983784 | DOI:10.1038/ng.952
  • Rossin, E., Lage, K., Raychaudhuri, S., Xavier, R., Tatar, D., Benita, Y., , , Cotsapas, C. & Daly, M (2011). Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet, 7(1), e1001273. eScholarID:132944 | PMID:21249183 | DOI:10.1371/journal.pgen.1001273
  • Thompson, A., Johnson, A., Quinlan, P., Hillman, G., Fontecha, M., Bray, S., Purdie, C., Jordan, L., Ferraldeschi, R., Latif, A., Hadfield, K., Clarke, R., Ashcroft, L., Evans, D., Howell, A., Nikoloff, M., Lawrence, J. & Newman, W (2011). Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy. Breast Cancer Res Treat, 125(1), 279-87. eScholarID:132930 | PMID:20809362 | DOI:10.1007/s10549-010-1139-x
  • Weber, S., Thiele, H., Mir, S., Toliat, M., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmüller, J., Frommolt, P., Stuart, H., Ranjzad, P., Hanley, N., Jennings, R., Newman, W., Wilcox, D., Thiel, U., Schlingmann, K., Beetz, R., Hoyer, P., Konrad, M., Schaefer, F., Nürnberg, P. & Woolf, A (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet, 89(5), 668-74. eScholarID:143010 | PMID:22077972 | DOI:10.1016/j.ajhg.2011.10.007


  • Newman WG, Blackhall F, Burnet NG, Barnett GC, Cantarini M, Clancy T, Dunning AM, Elliott RM, Ferraldeschi R, Howell S, Kirchheiner J, Payne K, Rodríguez-Antona C, Somogyi A, Turner PK, Veal G, West C. Newman WG. (Ed.) (2010). Pharmacogenetics: Making cancer treatment safer and more effective. Netherlands: Springer. eScholarID:101750
  • , et al (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-20. eScholarID:132936 | PMID:20360734 | DOI:10.1038/nature08979
  • Aung, K., Board, R., Ellison, G., Donald, E., Ward, T., Clack, G., Ranson, M., Hughes, A., Newman, W. & Dive, C (2010). Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours. Hugo J, 4(1-4), 11-21. eScholarID:143005 | PMID:22132062 | DOI:10.1007/s11568-011-9149-2
  • Banka, S., Newman, W., Ozgül, R. & Dursun, A (2010). Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A, 152A(10), 2609-11. eScholarID:132915 | PMID:20799326 | DOI:10.1002/ajmg.a.33615
  • Banka, S., Roberts, R., Plews, D. & Newman, W (2010). Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia. J Pediatr Hematol Oncol, 32(4), 319-22. eScholarID:132906 | PMID:20404749 | DOI:10.1097/MPH.0b013e3181d74719
  • Bergqvist, J., Latif, A., Roberts, S., Hadfield, K., Lalloo, F., Howell, A., Evans, D. & Newman, W (2010). RASSF1A polymorphism in familial breast cancer. Fam Cancer, 9(3), 263-5. eScholarID:132920 | PMID:20361264 | DOI:10.1007/s10689-010-9335-8
  • Cotterill, L., Payne, D., Levinson, S., McLaughlin, J., Wesley, E., Feeney, M., Durbin, H., Lal, S., Makin, A., Campbell, S., Roberts, S., O'Neill, C., Edwards, C. & Newman, W (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. Can J Gastroenterol, 24(5), 297-302. eScholarID:132925 | PMID:20485703
  • Daly, S., Urquhart, J., Hilton, E., McKenzie, E., Kammerer, R., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D., Burgu, B., Aydogdu, O., Derbent, M., Garcia-Minaur, S., Reardon, W., Gener, B., Shalev, S., Smith, R., Woolf, A., Black, G. & Newman, W (2010). Mutations in HPSE2 Cause Urofacial Syndrome. American journal of human genetics, 86(6), 963. eScholarID:132917 | PMID:20560210 | DOI:10.1016/j.ajhg.2010.05.006
  • Franke, et al (2010). Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet, 42(12), 1118-25. eScholarID:132935 | PMID:21102463 | DOI:10.1038/ng.717
  • Hadfield, K., Smith, M., Trump, D., Newman, W. & Evans, D (2010). SMARCB1 mutations are not a common cause of multiple meningiomas. J Med Genet, 47(8), 567-8. eScholarID:132928 | PMID:20472658 | DOI:10.1136/jmg.2009.075721
  • Hadfield, K., Smith, M., Urquhart, J., Wallace, A., Bowers, N., King, A., Rutherford, S., Trump, D., Newman, W. & Evans, D (2010). Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. Oncogene, 29(47), 6216-21. eScholarID:132924 | PMID:20729918 | DOI:10.1038/onc.2010.363
  • 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. Eur J Clin Pharmacol, 66(10), 999-1003. eScholarID:132934 | PMID:20521035 | DOI:10.1007/s00228-010-0826-1
  • Higgs, J., Gambhir, N., Ramsden, S., Poulton, K. & Newman, W (2010). Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories. Genet Test Mol Biomarkers, 14(1), 121-5. eScholarID:132922 | PMID:20039783 | DOI:10.1089/gtmb.2009.0156
  • Higgs, J., Payne, K., Roberts, C. & Newman, W (2010). Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications? Pharmacogenomics, 11(2), 177-88. eScholarID:101724 | PMID:20136357 | DOI:10.2217/pgs.09.155
  • Latif, A., Hadfield, K., Roberts, S., Shenton, A., Lalloo, F., Black, G., Howell, A., Evans, D. & Newman, W (2010). Breast cancer susceptibility variants alter risks in familial disease. J Med Genet, 47(2), 126-31. eScholarID:101723 | PMID:19617217 | DOI:10.1136/jmg.2009.067256
  • Newton, K., Newman, W. & Hill, J (2010). Review of Biomarkers in Colorectal Cancer. Colorectal Dis, eScholarID:132945 | PMID:21040359 | DOI:10.1111/j.1463-1318.2010.02439.x
  • Perogamvros, I., Underhill, C., Henley, D., Hadfield, K., Newman, W., Ray, D., Lightman, S., Hammond, G. & Trainer, P (2010). Novel corticosteroid-binding globulin variant that lacks steroid binding activity. J Clin Endocrinol Metab, 95(10), E142-50. eScholarID:132919 | PMID:20610591 | DOI:10.1210/jc.2010-0746
  • Shabaruddin, F., Elliott, R., Valle, J., Newman, W. & Payne, K (2010). Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom. Br J Cancer, 103(3), 315-23. eScholarID:132927 | PMID:20661248 | DOI:10.1038/sj.bjc.6605766
  • Smith, M., Hadfield, K., Ramsden, R., Rutherford, S., King, A., Newman, W. & Evans, D (2010). Isolated unilateral vestibular schwannomas do not harbor HRAS mutations. Am J Med Genet A, 152A(6), 1586-7. eScholarID:132913 | PMID:20503341 | DOI:10.1002/ajmg.a.33409
  • Spiegel, R., Cliffe, S., Buckley, M., Crow, Y., Urquhart, J., Horovitz, Y., Tenenbaum-Rakover, Y., Newman, W., Donnai, D. & Shalev, S (2010). Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet, 53(5), 309-13. eScholarID:132909 | PMID:20619369 | DOI:10.1016/j.ejmg.2010.06.012


  • Barrett, et al (2009). Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet, 41(12), 1330-1334. eScholarID:132911 | PMID:19915572 | DOI:10.1038/ng.483
  • Ferraldeschi, R., Minchell, L., Roberts, S., Tobi, S., Hadfield, K., Blackhall, F., Mullamitha, S., Wilson, G., Valle, J., Saunders, M. & Newman, W (2009). UGT1A1*28 genotype predicts gastrointestinal toxicity in patients treated with intermediate-dose irinotecan. Pharmacogenomics, 10(5), 733-9. eScholarID:132926 | PMID:19450125 | DOI:10.2217/pgs.09.20
  • Gurwitz, D., Rodríguez-Antona, C., Payne, K., Newman, W., Gisbert, J., de Mesa, E. & Ibarreta, D (2009). Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain. Eur J Hum Genet, 17(8), 991-8. eScholarID:132938 | PMID:19223932 | DOI:10.1038/ejhg.2009.10
  • Lok, C., Merryweather-Clarke, A., Viprakasit, V., Chinthammitr, Y., Srichairatanakool, S., Limwongse, C., Oleesky, D., Robins, A., Hudson, J., Wai, P., Premawardhena, A., de Silva, H., Dassanayake, A., McKeown, C., Jackson, M., Gama, R., Khan, N., Newman, W., Banait, G., Chilton, A., Wilson-Morkeh, I., Weatherall, D. & Robson, K (2009). Iron overload in the Asian community. Blood, 114(1), 20-5. eScholarID:132939 | PMID:19342478 | DOI:10.1182/blood-2009-01-199109
  • Newman WG, Zhang Q, Liu X, Amos C, Siminovitch K. (2009). Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population. J Clin Gastroenterol, 43( 5), eScholarID:1d20228 | DOI:10.1097/MCG.0b013e318168bdf0
  • Walker, E., Hirschfield, G., Xu, C., Lu, Y., Liu, X., Lu, Y., Coltescu, C., Wang, K., Newman, W., Bykerk, V., Keystone, E., Mosher, D., Amos, C., Heathcote, E. & Siminovitch, K (2009). CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population. Arthritis Rheum, 60(4), 931-7. eScholarID:132905 | PMID:19333938 | DOI:10.1002/art.24412
  • Bagul A, Pushpakom S, Balachander S, Newman WG, Siriwardena A. (2009). The SPINK1 N34S variant is associated with acute pancreatitis. Eur J Gastroenterol Hepatol, 21( 4), eScholarID:17d743 | DOI:10.1097/MEG.0b013e3283218645


  • Browning, B, Annese, V, Barclay, M, Bingham, S, Brand, S, Büning, C, Castro, M, Cucchiara, S, Dallapiccola, B, Drummond, H, Ferguson, L, Ferraris, A, Fisher, S, Gearry, R, Glas, J, Henckaerts, L, Huebner, C, Knafelz, D, Lakatos, L, Lakatos, P, Latiano, A, Liu, X, Mathew, C, Müller-Myhsok, B, Newman, WG, Nimmo, E, Noble, C, Palmieri, O, Parkes, M, Petermann, I, Rutgeerts, P, Satsangi, J, Shelling, A, Siminovitch, K, Török, H, Tremelling, M, Vermeire, S, Valvano, M, Witt, H. (2008). Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts. J Med Genet, 45( 1), eScholarID:1d20229 | DOI:10.1136/jmg.2007.050773
  • Gurwitz D, Newman WG. (2008). Re: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: a modeling analysis. J Natl Cancer Inst, 100( 18), eScholarID:1d32422 | DOI:10.1093/jnci/djn269
  • Hadfield, K., Newman, W., Bowers, N., Wallace, A., Bolger, C., Colley, A., McCann, E., Trump, D., Prescott, T. & Evans, D (2008). Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet, 45(6), 332-9. eScholarID:132916 | PMID:18285426 | DOI:10.1136/jmg.2007.056499
  • Hennies, H., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Nätebus, M., Brancati, F., Wilcox, W., Müller, D., Kaplan, P., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., Clayton-Smith, J., Tassabehji, M., Steinmann, B., Barr, F., Nürnberg, P., Wieacker, P. & Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet, 40(12), 1410-2. eScholarID:132937 | PMID:18997784 | DOI:10.1038/ng.252
  • Higgs, J., Andrews, J., Gurwitz, D., Payne, K. & Newman, W (2008). Pharmacogenetics education in British medical schools. Genomic Med, 2(3-4), 101-5. eScholarID:132942 | PMID:19363698 | DOI:10.1007/s11568-009-9032-6
  • Newman WG, Hadfield K, Latif A, Roberts SA, Shenton A, McHague C, Lalloo F, Howell S, Evans DDGR. (2008). Impaired tamoxifen metabolism reduces survival in familial breast cancer patients. Clinical Cancer Research, 14(18), 5913-5918. eScholarID:1d18714 | DOI:10.1158/1078-0432.CCR-07-5235
  • Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A, 146A(23), 3034-7. eScholarID:132914 | PMID:19006212 | DOI:10.1002/ajmg.a.32564
  • Rashid S, Bharucha S, Jamallulail S, Banait G, Kemp K, Makin A, Newman WG. (2008). Inflammatory bowel disease in the South Asian population of Northwest England. Am J Gastroenterol, 103( 1), 242-3; author reply 243-4. eScholarID:1d32465 | DOI:10.1111/j.1572-0241.2007.01562_3.x


  • Chowdhury, J., Kagiala, G., Pushpakom, S., Lauzon, J., Makin, A., Atrazhev, A., Stickel, A., Newman, W., Backhouse, C. & Pilarski, L (2007). Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events. J Mol Diagn, 9(4), 521-9. eScholarID:132918 | PMID:17690215 | DOI:10.2353/jmoldx.2007.070014
  • Cilliers DD, Parveen R, Clayton PE, Cairns S, Clarke S, Shalet SM, Black GCM, Newman WG, Clayton-Smith J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, eScholarID:1d15560
  • Fargher, E., Eddy, C., Newman, W., Qasim, F., Tricker, K., Elliott, R. & Payne, K (2007). Patients' and healthcare professionals' views on pharmacogenetic testing and its future delivery in the NHS. Pharmacogenomics, 8(11), 1511-9. eScholarID:132943 | PMID:18034616 | DOI:10.2217/14622416.8.11.1511
  • Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, Davies LM, Clayton-Smith J. (2007). Array comparative genomic hybridization for diagnosis of developmental delay - an exploratory cost-consequences analysis. Clinical Genetics, eScholarID:1d15529
  • Payne K, Newman WG, Fargher EA, Tricker K, Bruce IN, Ollier WER. (2007). TPMT testing in rheumatology: any better than routine monitoring? Rheumatology, 46, 727-729. eScholarID:1d15521 | DOI:10.1093/rheumatology/kel427
  • Rice, G., Newman, W., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A., Bowden, A., Perrino, F., Lindahl, T., Barnes, D. & Crow, Y (2007). Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet, 80(4), 811-5. eScholarID:194538 | PMID:17357087 | DOI:10.1086/513443


  • C Amos, J Witte, Newman WG. (2006). Identifying causal genetic factors. Principles of Molecular Medicine. (pp. 19-26). Springer. eScholarID:3d881
  • Blackhall FH, Howell S, Newman WG. (2006). Pharmacogenetics in the management of breast cancer -- prospects for individualised treatment. Familial Cancer, 5(2), eScholarID:1d15213
  • Newman WG, Gu X, Wintle RF, Liu X, van Oene M, Amos CI, Siminovitch KA. (2006). DLG5 variants contribute to Crohn's Disease risk in a Canadian population. Human Mutation, 27(4), 353-358. eScholarID:1d13166 | DOI:10.1002/humu.20301
  • Newman, W., Zhang, Q., Liu, X., Walker, E., Ternan, H., Owen, J., Johnson, B., Greer, W., Mosher, D., Maksymowych, W., Bykerk, V., Keystone, E., Amos, C. & Siminovitch, K (2006). Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population. Arthritis Rheum, 54(12), 3820-7. eScholarID:194539 | PMID:17133579 | DOI:10.1002/art.22270
  • Therrien J, Rambihar S, Newman WG, Siminovitch K, Langleben D, Webb G, Granton J. (2006). Eisenmenger syndrome and atrial septal defect: Nature or nurture? Can J Cardiol, 22(13), eScholarID:1d15212


  • Ho, PY, Bruce, IN, Silman, AJ, Symmons, D, Newman, WG, Young, H, Griffiths, CEM, John, S, Worthington, J, Barton, A. (2005). Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. Arthritis Rheum, 52( 11), eScholarID:1d11750 | DOI:10.1002/art.21393
  • Kennedy JE, Jackson G, Ramsden S, Taylor J, Newman WG, Wright MJ, Donnai D, Elles R, Briggs MM.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. Eur J Hum Genet, 13 (5), 547-555. eScholarID:1d15353
  • Newman WG, Gu X, Wintle RF, Cescon D, Peltekova VD, van Oene M, Amos CI, Siminovitch KA. (2005). A risk haplotype in the solute carrier family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology, 128, 260-269. eScholarID:1d11688 | DOI:10.1053/j.gastro.2004.11.056
  • Newman, WG, Wintle RF, van Oene M, Yazdanpanah M, Owen J, Johnson B, Gu X, Amos CI, Keystone E, Rubin LA, Siminovitch KA. (2005). SLC22A4 Polymorphisms Implicated in Rheumatoid Arthritis and Crohn's Disease Are Not Associated with Rheumatoid Arthritis in a Canadian Caucasian Population. Arthritis Rheum, 52, 425-429. eScholarID:1d11691 | DOI:10.1002/art.20854
  • van Oene, M, Wintle, RF, Liu, X, Yazdanpanah, M, Gu, X, Newman, WG, Kwan, A, Johnson, B, Owen, J, Greer, W, Mosher, D, Maksymowych, W, Keystone, R, Rubin, LA, Amos, CI, Siminovitch , KA. (2005). Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum, 52(7), eScholarID:1d15216
  • Wigle ED, Newman WG, Cescon D, Woo A, Rakowski H, Erikkson MJ, Sole M, Siminovitch KA. (2005). W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy. Mol Genet Metab, 84(4), eScholarID:1d15215
  • Payne, K, Fargher, EA, Tricker, K, Newman, WG, Qasim, FF, Poulton, K, Andrews, J, Houston, JB, Elliott, RA, Elles, R, Ray, DW, Shaffer, JL, Griffiths, CEM, Bruce, IN, Roberts, S A, Olier, WER. (2005). Research Governance: What is reasonable protection? BMJ Rapid Response, eScholarID:17d508


  • Newman WG, Cescon D, Domenchini A, Siminovitch KA. (2004). CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease. J Invest Dermatol;, 122, eScholarID:1d10212
  • Newman, WG, Silverberg MS, , Gu X, Zhang Q, , Lazaro A, Steinhart AH, Greenberg GR, Griffiths AM, McLeod RS, Cohen Z, Fernández-Viña M, Amos CI, Siminovitch KA. (2004). CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn's disease. Am J Gastro, 99, 306-315. eScholarID:1d32792 | DOI:10.1111/j.1572-0241.2004.04038.x
  • Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman, WG, van Oene, M, Cescon D, Griffiths AM, Greenberg GR, St George-Hyslop PH, Siminovitch KA. (2004). Functional variants of OCTN cation transporter genes are associated with Crohn's Disease. Nat Genet, 36, 471-475. eScholarID:1d10213 | DOI:10.1038/ng1339


  • Newman WG, Rubin LA, Siminovitch KA. (2003). NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's Granulomatosis. Journal of Rheumatology, 30, 305-307. eScholarID:1d10211
  • Toriello, HV, Carey, JC, Addor, MC, Allen, W, Burke, L, Chun, N, Dobyns, W, Elias, E, Gallagher, R, Hordijk, R, Hoyme, G, Irons, M, Jewett, T, Le Merrer, M, Lubinsky, M, Martin, R, McDonald-McGinn, D, Neumann, L, Newman, WG, Pauli, R, Seaver, L, Tsai, A, Wargowsky, D, Williams, M, Zackai, E. (2003). Toriello-Carey syndrome: delineation and review. Am J Med Genet A, 123 (1), eScholarID:1d15354 | DOI:10.1002/ajmg.a.20493


  • White A, Watson REB, Newman WG, Freemont AJ, Wallis GA. (2002). Annexin VIII is differentially expressed by chondrocytes in the mammalian growth plate during endochondral ossification and in osteoarthritic cartilage. J Bone Miner Res, 17( 10)(10), eScholarID:1d9639 | DOI:10.1359/jbmr.2002.17.10.1851


  • Newman WG, Gigout LI, Grant MM.E, Wallis Gillian. (2001). Coordinated expression of matrix Gla protein is required during endochondral ossification for chondrocyte survival. Journal of Cell Biology, 154, 659-66. eScholarID:1d10210 | DOI:10.1083/jcb.200106040