Professor Edward Tobias

  • Professor of Genetic Medicine (Medicine)

telephone: 01413549200
email: Edward.Tobias@glasgow.ac.uk

Biography

Prof Edward Tobias is a researcher, educator and clinical geneticist. As Professor of Genetic Medicine, he is currently joint lead of the training workstrand of the £3.4m MRC/EPSRC Glasgow Molecular Pathology Node & joint Clinical Director of the new MSc in Molecular Pathology. Previously, with an MRC Fellowship award, he undertook a PhD in the molecular biology of receptor signalling, followed by post-doctoral research in molecular cancer genetics. After subsequent training in NHS Clinical Genetics, he gained a GSK Senior Clinical Research Fellowship for his tumour suppressor gene research as an Hon. NHS Consultant, publishing results in Nature Genetics. He currently supervises post-graduate research (into developmental genes) by exomic and whole genome sequencing (WGS), in a formal grant-funded collaboration with the Wellcome Trust Sanger Institute. He is Chief Investigator of an ethically-approved WGS study & a co-investigator on the £6m CSO/MRC-funded Scottish Genomes Partnership for WGS.

Highly enthusiastic about teaching & training, & having previously gained Fellowship of the Higher Education Academy, he is lead author of international textbooks. He is Clinical Director of the MSc in Medical Genetics & Genomics (which has now won UK, Scottish & university awards) as well as the new MSc in Clinical Genetics and Genomics. He is also lead for a masters-level practical Clinical Genomics course and an award-winning undergraduate MBChB year 3 Genetics week. He enjoys receiving genetics questions from students, on any course.  He is a member of the Scottish Genetics Education Network (ScotGEN) Steering Committee and the European Society of Human Genetics (ESHG) Education Committee. His educational websites and apps are used internationally & he was very recently shortlisted for a higher education innovation technology award.

Personal qualifications: BSc (1st class Hons), MBChB, MRCP, PhD (Molecular Biology), FRCP, FHEA

Prof Tobias is enormously grateful to all of his colleagues in the university and in the NHS for all of their invaluable assistance.

Research interests

Prof Tobias is one of the work-strand leaders (and was one of the co-applicants) for the Glasgow Molecular Pathology Node (which received £3.4 million grant funding from the MRC and EPSRC in 2015). He is also the Chief Investigator of the ethically-approved and UK CRN-listed Genetic Investigation of Rare Disorders (exomic and whole genome sequencing) study, with funding from the Wellcome Trust for exomic sequencing and which recently benefitted from further substantial funding and an extension until 2022, permitting WGS analysis on cutting-edge HiSeq X machines. He is a co-investigator of the Scottish Genomes Partnership whole genome sequencing project which has been awarded a total of £6 million grant funding by the MRC and Scottish Executive Health Department. Through this work, and as a member of a European COST-Action working group, he aims to maximise the clinical and research benefits of next generation sequencing.

His research group has strong interests in the genetic basis of long QT syndrome and DSD conditions and he has multiple collaborators for example at Oxford, at the Sanger Institute, Cambridge, and at London’s Francis Crick Institute. The research of Prof Tobias was included in the university’s Research Excellence Framework (REF) submission, 2014 (please note that the Publications and Grants pages are currently being updated). Previously, he was awarded an MRC Training Fellowship and won a prestigious 6-year £400,000 GlaxoSmithKline Senior Clinical Fellowship. Subsequent molecular genetic work identifying a new candidate tumour suppressor gene, was graded "Excellent/clearly outstanding" by the Scientific Committee of the Chief Scientist Office.  In addition, molecular genetic work in elucidating the parent-of-origin effect in SDHD-related tumourigenesis led to the award of a prize to Prof Tobias from the British Society of Human Genetics. Several other projects have led to the award of prizes to students he has supervised.

He greatly enjoys teaching and was presented with the Best College Teacher award for two consecutive years, from the Student Representative Council (SRC) at the 2013 and 2014 Student Teaching Awards ceremonies.

In addition, in 2014, he and his MSc Medical Genetics teaching colleagues won the 2014 UK Prospects Postgraduate Teaching Team Award as well as University of Glasgow College-level and University-level Teaching Excellence Awards. At the undergraduate level, he was a member (as lead for Genetics) of the Year 3 MBChB teaching team that won a Teaching Excellence Award in 2017.

Prof Tobias is the lead author of two internationally popular textbooks. One of these, Essential Medical Genetics, has been purchased in approximately 70 countries, has been adopted at Cambridge University and is being translated into five foreign languages. He also provides international teaching as an educator on the university’s cancer genomics MOOC and by maintaining a 35-page web-based guide to medical genetics that is used by students and researchers in over 150 countries. Recently, he created two Clinical Genomics apps (for smartphones and tablets) that he has made freely available via the Apple and Android Play Stores and which are now in use in over 40 countries worldwide. These apps have been rated 5 stars and have been endorsed by clinical and laboratory professionals in many countries as well as by international specialist organisations such as DSDnet. Please see the Teaching section for more information.

Grants

Grants and Awards listed are those received whilst working with the University of Glasgow.

  • Frequency of disorders of sex development and novel genetic associations in children with neurodevelopmental disorders
    Glasgow Children's Hospital Charity
    2016 - 2018
     
  • ISSF Toward universally feasible molecular diagnostics in kidney transplantation through development of novel transcriptomic approaches making use of routine diagnostic tissue
    Wellcome Trust
    2016 - 2016
     
  • The Scottish Genomes Partnership
    Scottish Executive Health Department
    2016 - 2019
     
  • Glasgow Molecular Pathology (GMP) Node
    Medical Research Council
    2015 - 2018
     
  • Exome Sequencing for the Genetic Diagnosis of Rare Diseases: Fostering a New Working Relationship between the NHS, the University of Glasgow and Glasgow Polyomics (ISSF)
    Wellcome Trust
    2013 - 2015
     
  • Exome Sequencing for the Genetic Diagnosis of Rare Diseases: Fostering a New Working Relationship between the NHS, the University of Glasgow and Glasgow Polyomics (ISSF)
    Wellcome Trust
    2013 - 2014
     
  • Understanding variability in phenotype, and assessing the risk of serious cardiac events, in women and children with long QT syndrome.
    Yorkhill Children's Foundation
    2013 - 2015
     
  • Molecular genetic investigation of familial joint instability
    Yorkhill Children's Foundation
    2007 - 2015
     
  • Molecular genetic analysis of the putative tumour suppressor gene,TES,in human breast cancer
    Tenovus-Scotland
    2006 - 2012
     
  • Identification of high-penetrance gene alterations that predispose to familial melanoma in Scottish patients
    Scottish Executive Health Department
    2006 - 2008
     

Teaching

Prof Tobias enjoys teaching and strives to deliver the most up-to-date, interactive and enjoyable teaching to students of all levels. He is a member of the Steering Committee of the Scottish Genetics Education Network (ScotGEN) and is an invited member of the Education Committee of the European Society of Human Genetics (ESHG).

AWARDS

Interactive and innovative teaching by Prof Tobias led to his two “Best College Teacher Awards” from the Student Representative Council (SRC), to his personal Teaching Excellence Award from the Principal of the University of Glasgow and to an SRC award for “Best Subject Area” (Medical Genetics) taught at the university. Please see Additional Information for a more complete list of teaching awards received.

INTERNATIONAL TEXTBOOKS & CHAPTERS

Prof Tobias is the lead author of an updated edition of a large medical genetics textbook (Essential Medical Genetics 6th edition; 332 pages) that is in use at Cambridge University and in many countries in Europe, Asia, Australasia and North America. It is currently being translated into five foreign languages. He is the lead author of another textbook on medical genetics, for specialists, entitled: Medical Genetics for the MRCOG and Beyond, 2nd edition (2014).

He has also published many book chapters including an extensive chapter on the human genome (in the international Handbook of Pharmacogenomics and Stratified Medicine, Elsevier, 2014), a chapter on next generation sequencing (Karger, 2014), a chapter on inherited cancer syndromes (Springer, 2016) and a 60-page chapter on the molecular biology of cancer in an international medical genetics reference book (Principles & Practice of Medical Genetics, Elsevier, 2013).

EDUCATIONAL APPS USED WORLDWIDE

Together with his son, Adam Tobias, he recently created two educational Clinical Genomics apps (for smartphones and tablets) that he has made freely available via the Apple and Android Play Stores and which are now in use in over 40 countries worldwide. These apps have been rated 5 stars and have been endorsed by clinical and laboratory professionals in many countries as well as by international specialist organisations such as DSDnet and the ESHG. The development process of the apps has been published in the open-access journal Applied & Translational Genomics in an invited paper and recently cited as a key reference in a recent article from Oxford and Nairobi on the value of mobile technology for medical education in low-income countries. 

EDUCATIONAL WEBSITE

He has also created an accompanying 35-page website that is freely accessible at www.essentialmedgen.com which has provided genetics resource guidance and updates to many thousands of visitors from over 150 countries.

REVIEWING & EXTERNAL EXAMINING

He has reviewed documents for many publishers and research grant providers e.g. Elsevier Press, British Medical Journal, Oxford University Press, the Wellcome Trust and the Medical Research Council. He serves or has served as an external examiner and reviewer for postgraduate medical genetics at Aberdeen, Dundee, Edinburgh and Newcastle universities.

GENETICS & GENOMICS TEACHING in GLASGOW & BEYOND

At the University of Glasgow, he is the lead for the undergraduate curriculum in medical genetics for MBChB year 3. For that course, he created and delivered a new series of interactive lectures and case-based learning sessions, leading to multiple awards. Please see Additional Information for award details.

Prof Tobias lectures on several other undergraduate and postgraduate courses at the University of Glasgow. In particular, he is involved, as Clinical Director, in running the internationally renowned and award-winning MSc in Medical Genetics & Genomics course, which attracts a large number of students from all over the world. For that MSc and others, he runs a new 5-week Clinical Genomics and practical bioinformatics course. He is also Clinical Director of the new GCRB-accredited MSc in Genetic & Genomic Counselling and joint Clinical Director of the new MSc in Molecular Pathology. He is also an educator on the new University of Glasgow Massive Open Online Course (MOOC), Cancer in the 21st Century: The Genomic Revolution, teaching thousands of students, worldwide. 

As mentioned previously, Prof Tobias is enormously grateful to all of his colleagues in the university and in the NHS for all of their invaluable assistance.

Additional information

Prizes, Awards and Distinctions

  • 2017: Student Representative Council, University of Glasgow - Individual Finalist: SRC Student Teaching Award - Best Online Learning Experience
  • 2017: College of Medical, Veterinary & Life Sciences - Team MVLS Teaching Excellence Award (won by the MBChB Year 3 Teaching Team; personal involvement: Lead for Genetics)
  • 2017: Student Representative Council, University of Glasgow - Individual Finalist in SRC Student Teaching Award category: Best College Teacher in MVLS
  • 2016: Herald Higher Education Awards for Scotland - Team Finalist (University of Glasgow Medical Genetics Teaching Team)
  • 2016: Student Representative Council, University of Glasgow - Individual Finalist: SRC Student Teaching Award in the category of Outstanding Contribution to Teaching
  • 2015: Student Representative Council, University of Glasgow - Individual Finalist: in SRC Student Teaching Award in the category of Outstanding Contribution to Teaching
  • 2014: Prospects UK - Best Post-graduate Teaching Team (MSc Medical Genetics), Award winners - Manchester
  • 2014: University of Glasgow - Teaching Excellence Award (from the University Principal; awarded to the MSc Medical Genetics teaching team members)
  • 2014: Student Representative Council, University of Glasgow - Winner of SRC Student Teaching Award for "Best College Teacher, MVLS"
  • 2014: College of MVLS - Teaching Excellence Award to the MSc Medical Genetics Teaching Team
  • 2013: Prospects UK - Post-graduate Teaching Team (MSc Medical Genetics), Finalists Award - Manchester
  • 2013: Student Representative Council, University of Glasgow - SRC Student Teaching Awards: winner of award for Best College Teacher, MVLS, following detailed nominations from approximately 40 students.
  • 2013: Royal Medico-Chirurgical Society of Glasgow - Research prize to PhD student, Catriona Brown, for her analysis and presentation regarding cardiac causes of sudden death.
  • 2012: Student Representative Council, University of Glasgow - SRC Student Teaching Award for Best Teacher MVLS (shortlisted) following detailed nominations from approximately 20 students.
  • 2012: Teaching Excellence Award, for a Career Distinguished by a Significant and Sustained Commitment to Excellence
  • 2012: Student Representative Council, University of Glasgow - Winner of SRC StudentTeaching Award for Best Subject Area - Medical Genetics.
  • 2012: University of Glasgow - Recently shortlisted for a Teaching Excellence Award
  • 2011: British Society for Human Genetics - Research prize for work on the elucidation of the molecular genetic basis of the SDHD-related parent of origin effect. Annual conference. University of Warwick.
  • 2011: YCF Prize - Awarded to SpR, Ruth McGowan, for work on human developmental genes and loci.
  • 2009: Scottish Executive Health Department - Grading of melanoma gene work as Excellent/clearly outstanding by the Chief Scientist Office Scientific Committee.
  • 2008: Scottish Breast Cancer Network Dundee - Prize to a postgraduate student for the analysis of BRCA1 and BRCA2 variants by computational methods.
  • 2007: UK Women's Federation - Prize awarded for molecular genetic work on the role of the TES gene in breast cancer, by another student in Dr Tobias laboratory.

Professional Learned Society

  • 2012 - ongoing: Association of Physicians of Great Britain & Ireland - Elected as Member
  • 2004 - ongoing: Royal College of Physicians - Elected Fellow

Research Fellowship

  • 2012 - ongoing: Higher Education Academy - Fellowship of the HEA after detailed peer review.
  • 2001 - 2006: GlaxoWellcome (GlaxoSmithKline) Clinical Research Fellowship - Only two of these are awarded annually in the UK.
  • 1993 - 1996: Medical Research Council - Training Fellowship (for the duration of a PhD in Molecular Biology)

Publications

List by: Type | Date

Jump to: 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2005 | 2003 | 2002 | 2001 | 2000 | 1999 | 1997 | 1995 | 1994
Number of items: 68.

2017

Rodie, M.E., Mudaliar, M.A.V. , Herzyk, P., McMillan, M., Boroujerdi, M., Chudleigh, S., Tobias, E.S. and Ahmed, S.F. (2017) Androgen-responsive non-coding small RNAs extend the potential use of HCG stimulation as a bioassay of androgen sufficiency. European Journal of Endocrinology, (doi:10.1530/EJE-17-0404) (Early Online Publication)

2016

Gazdagh, G., Tobias, E. S., Ahmed, S. F. and McGowan, R. (2016) Novel genetic associations and range of phenotypes in children with disorders of sex development and neurodevelopment: insights from the deciphering developmental disorders study. Sexual Development, 10(3), pp. 130-135. (doi:10.1159/000447958) (PMID:27598577) (PMCID:PMC5079067)

Tobias, E. (2016) Genetic counseling for childhood tumors and inherited cancer-predisposing syndromes. In: Carachi, R. and Grosfeld, J. (eds.) Surgery of Childhood Tumours. Springer-Verlag: Berlin. ISBN 9783662485880 (doi:10.1007/978-3-662-48590-3)

2015

Tobias, A. P. and Tobias, E. S. (2015) Developing educational iPhone, Android and Windows smartphone cross-platform apps to facilitate understanding of clinical genomics terminology. Applied and Translational Genomics, 6, pp. 15-17. (doi:10.1016/j.atg.2015.08.001) (PMID:27054073) (PMCID:PMC4803764)

Kyriakou, A., Lucas-Herald, A. K., McGowan, R., Tobias, E. S. and Ahmed, S. F. (2015) Disorders of sex development: advances in genetic diagnosis and challenges in management. Advances in Genomics and Genetics, 5, pp. 165-177. (doi:10.2147/AGG.S53226)

McGowan, R. et al. (2015) DNA copy number variations are important in the complex genetic architecture of Müllerian disorders. Fertility and Sterility, 103(4), pp. 1021-1030. (doi:10.1016/j.fertnstert.2015.01.008) (PMID:25707337)

Terhal, P. A. et al. (2015) A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics Part A, 167(3), pp. 461-475. (doi:10.1002/ajmg.a.36922)

Peterlongo, P. et al. (2015) Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 24(1), pp. 308-316. (doi:10.1158/1055-9965.EPI-14-0532)

Kuchenbaecker, K. B. et al. (2015) Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics, 47(2), pp. 164-171. (doi:10.1038/ng.3185)

2014

Pooley, K. A. et al. (2014) Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status. Cancer Epidemiology, Biomarkers and Prevention, 23(6), pp. 1018-1024. (doi:10.1158/1055-9965.EPI-13-0635-T)

Murphy, K.M., Cooper, A. and Tobias, E.S. (2014) The human genome, gene regulation and genomic variation. In: Padmanabhan, S. (ed.) Handbook of Pharmacogenomics and Stratified Medicine. Academic Press: London, pp. 41-56. ISBN 9780123868824

Tobias, E. S. and Connor, J. M. (2014) Medical Genetics for the MRCOG and Beyond. Cambridge University Press: Cambridge. ISBN 9781107661301

Ahmed, F., Lucas-Herald, A., McGowan, R. and Tobias, E. (2014) 46,XX ovotesticular disorder of sex development. Orphanet,

Ahmed, F., Lucas-Herald, A., McGowan, R. and Tobias, E. (2014) 46,XX testicular disorder of sex development. Orphanet,

Tobias, E. S. and McElreavey, K. (2014) Next generation sequencing for disorders of sex development. Endocrine Development, 27, pp. 53-62. (doi:10.1159/000363615)

2013

Tobias, E. (2013) Goldenhar syndrome. Contact a Family,

Mavaddat, N. et al. (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. Journal of the National Cancer Institute, 105(11), pp. 812-822. (doi:10.1093/jnci/djt095)

Tobias, E. (2013) The molecular biology of cancer. In: Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (eds.) Emery and Rimoin's Essential Medical Genetics. Elsevier. ISBN 9780124072404

Gaudet, M. M. et al. (2013) Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genetics, 9(3), e1003173. (doi:10.1371/journal.pgen.1003173) (PMID:23544012) (PMCID:PMC3609647)

Gordon, C.T. et al. (2013) Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Journal of Medical Genetics, 50(3), pp. 174-186. (doi:10.1136/jmedgenet-2012-101331)

Tobias, E.S. (2013) The molecular biology of cancer. In: Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Academic: Oxford, UK, pp. 498-542. ISBN 9780123838346

2012

Lyall, D.A.M., Tobias, E.S., Srinivasan, S. and Willoughby, C. (2012) Bilateral keratoconus in tuberous sclerosis: is there a molecular link? Canadian Journal of Ophthalmology = Journal canadien d'ophtalmologie, 47(6), e41-e42.

Jakubowska, A. et al. (2012) Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. British Journal of Cancer, 106(12), pp. 2016-24. (doi:10.1038/bjc.2012.160)

Barnes, D.R. et al. (2012) Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genetic Epidemiology, 36(3), pp. 274-291. (doi:10.1002/gepi.21620)

Ramus, S.J. et al. (2012) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Human Mutation, 33(4), pp. 690-702. (doi:10.1002/humu.22025)

Mavaddat, N. et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology, Biomarkers and Prevention, 21(1), pp. 134-147. (doi:10.1158/1055-9965.EPI-11-0775)

Esden-Tempska, Z., Lewczuk, A., Tobias, E.S., Borozdin, W., Kohlhase, J. and Sworczak, K. (2012) Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene. Journal of Pediatric Endocrinology and Metabolism, 25(1-2), pp. 147-148. (doi:10.1515/JPEM.2011.400)

Kirchhoff, T. et al. (2012) Breast cancer risk and 6q22.33: combined results from breast cancer association consortium and consortium of investigators on modifiers of BRCA1/2. PLoS ONE, 7(6), e35706. (doi:10.1371/journal.pone.0035706)

Maia, A.T. et al. (2012) Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Research, 14(2), R63. (doi:10.1186/bcr3169)

Terhal, P.A. et al. (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160C(3), pp. 205-216. (doi:10.1002/ajmg.c.31332)

2011

Yeap, P. M. et al. (2011) Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. Journal of Clinical Endocrinology and Metabolism, 96(12), E2009-E2013. (doi:10.1210/jc.2011-1244)

Antoniou, A.C. et al. (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20(16), pp. 3304-3321. (doi:10.1093/hmg/ddr226)

Tobias, E.S., Connor, J.M. and Ferguson-Smith, M. (2011) Essential Medical Genetics (6th edition). Series: Essentials. Wiley-Blackwell: Chichester, U.K.. ISBN 9781405169745

Cox, D. G. et al. (2011) Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human Molecular Genetics, 20(23), pp. 4732-4747. (doi:10.1093/hmg/ddr388)

Freeman, D. J. et al. (2011) Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER). BMC Geriatrics, 11, 8. (doi:10.1186/1471-2318-11-8) (PMID:21342490) (PMCID:PMC3053238)

Im, K.M. et al. (2011) Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Genetics, 130(5), pp. 685-699. (doi:10.1007/s00439-011-1003-z)

Lang, J., Tobias, E.S. and MacKie, R. (2011) Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma. British Journal of Dermatology, 164(5), pp. 1010-1016. (doi:10.1111/j.1365-2133.2011.10223.x)

Mulligan, A.M. et al. (2011) Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research, 13(6), R110. (doi:10.1186/bcr3052)

Rebbeck, T. R. et al. (2011) Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes. Cancer Research, 71(17), pp. 5792-5805. (doi:10.1158/0008-5472.CAN-11-0773)

2010

Antoniou, A.C. et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42(10), pp. 885-892. (doi:10.1038/ng.669)

Vickers, A. et al. (2010) The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine. PLoS ONE, 5(10), e13363. (doi:10.1371/journal.pone.0013363)

Laugel, V. et al. (2010) Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome. Human Mutation, 31(2), pp. 113-126. (doi:10.1002/humu.21154)

2009

Mitra, A. et al. (2009) Overexpression of RAD51 occurs in aggressive prostatic cancer. Histopathology, 55(6), pp. 696-704. (doi:10.1111/j.1365-2559.2009.03448.x)

Antoniou, A.C. et al. (2009) Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the international BRCA1/2 carrier cohort study. Cancer Epidemiology, Biomarkers and Prevention, 18(2), pp. 601-610. (doi:10.1158/1055-9965.EPI-08-0546)

2008

Harland, M. et al. (2008) A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). European Journal of Cancer, 44(9), pp. 1269-1274. (doi:10.1016/j.ejca.2008.03.005)

Laugel, V., Dalloz, C., Tobias, E., Tolmie, J., Martin-Coignard, D., Drouin-Garraud, V., Valayannopoulos, V., Sarasin, A. and Dollfus, H. (2008) Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Journal of Medical Genetics, 45(9), pp. 564-571. (doi:10.1136/jmg.2007.057141)

Mefford, H.C. et al. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine, 359(16), pp. 1685-1699. (doi:10.1056/NEJMoa0805384)

Tobias, E.S. and Connor, J.M. (2008) Genetic counselling for childhood tumors and inherited cancer-predisposing syndromes. In: Carachi, R., Grosfeld, J.L. and Azmy, A.F.F. (eds.) The Surgery of Childhood Tumors. Springer: Berlin, pp. 33-48. ISBN 9783540297338

2007

Balsitis, M., Cooke, A., Griffiths, S., Onen, N.F., Shah, A.A., Stewart, W. , Traynor, J.P., Upadhyaya, M. and Tobias, E. S. (2007) Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. Familial Cancer, 6(1), pp. 147-152. (doi:10.1007/s10689-006-9002-2)

Coucke, P. et al. (2007) COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. American Journal of Medical Genetics Part A, 143A(2), pp. 161-167.

Goldgar, D., Hayward, N., Hogg, D., Lang, J., Mackie, R., Palmer, J., Stark, M., Tobias, E. and Tsao, H. (2007) The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46(3), pp. 277-287.

Lang, J., Hayward, N., Goldgar, D., Tsao, H., Hogg, D., Palmer, J., Stark, M., Tobias, E. and Mackie, R. (2007) The m531 mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46(3), pp. 277-287. (doi:10.1002/gcc.20410)

Tobias, E.S. (2007) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone Elsevier: Philadelphia. ISBN 9780443068706 (set)

2005

Spurdle, A.B. et al. (2005) The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research, 7(2), R176-R183. (doi:10.1186/bcr971)

2003

D'Haens, E., Fery, F., Kayserilli, H., Kleijer, W., Maassen, J., Tobias, E., Tukel, T., van der Zon, G. and Yuksel-Apak, M. (2003) Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. Journal of Clinical Endocrinology and Metabolism, 88(9), pp. 4251-4257.

2002

Tobias, E.S. (2002) Questions on molecular medicine and genetics for the MRCP part 1. In: Basic Science MRCP Question Book. MPG Books: Bodmin.

Tobias, E.S. (2002) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone: London, UK. ISBN 9780443064340

Tobias, E., Stephenson, J. and Tolmie, J. (2002) Cataplexy in the Prader-Willi syndrome. Archives of Disease in Childhood, 87(2), p. 170.

2001

Barton, J., Bryce, G., Colgan, J., Cooke, A., Farmer, G., Morrison, N., Tobias, E. and Tolmie, J. (2001) Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. Journal of Medical Genetics, 38(7), pp. 466-469.

Hughes, K., Hurlstone, A., Tobias, E., McFarlane, R. and Black, D. (2001) Absence of ST7 mutations in tumor-derived cell lines and tumors. Nature Genetics, 29(4), pp. 380-381.

MacKenzie, J., Patrick, W., Tobias, E. and Whiteford, M. (2001) A case of acro-renal-mandibular syndrome in an 18 week male fetus. Clinical Dysmorphology, 10(1), pp. 61-64.

Tobias, E., Hurlstone, A., MacKenzie, E., McFarlane, R. and Black, D. (2001) The TES gene at 7q31,1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein. Oncogene, 20(22), pp. 2844-2853.

2000

Tobias, E.S. and Connor, M. (2000) Dyskeratosis congenita. In: Stevenson, R.E., Schwartz, C.E. and Schroer, R.J. (eds.) X-linked Mental Retardation. Series: Oxford monographs on medical genetics (39). Oxford University Press: Oxford, UK. ISBN 9780195129816

1999

Tobias, E.S., Morrison, N., Whiteford, M.L. and Tolmie, J.L. (1999) Towards earlier diagnosis of 22q11 deletions. Archives of Disease in Childhood, 81(6), pp. 513-514. (doi:10.1136/adc.81.6.513)

1997

Tobias, E.S., Rozengurt, E., Connell, J. and Houslay, M.D. (1997) Co-transfection with protein kinase D confers phorbol-ester-mediated inhibition on glucagon-stimulated cAMP accumulation in COS cells transfected to overexpress glucagon receptors. Biochemical Journal, 326(2), pp. 545-551.

1995

Houslay, M.D. et al. (1995) Alternative splicing of the type-IVA cyclic AMP phosphodiesterase gene provides isoform variants with distinct N-terminal domains fused to a common, soluble catalytic unit: ‘designer’ changes in Vmax, stability and membrane association. Biochemical Society Transactions, 23, pp. 393-398.

1994

Tobias, E.S., Mann, C., Bone, I., de Silva, R. and Ironside, J. (1994) A case of Creutzfeldt-Jakob disease presenting with cortical deafness. Journal of Neurology, Neurosurgery and Psychiatry, 57(7), pp. 872-873.

Tobias, E.S., Brodie, A.F. and Brodie, M.J. (1994) An outcome audit at the epilepsy clinic: results from 1000 consecutive referrals. Seizure, 3(1), pp. 37-43. (doi:10.1016/S1059-1311(05)80161-X)

This list was generated on Sat Aug 19 12:10:15 2017 BST.
Number of items: 68.

Articles

Rodie, M.E., Mudaliar, M.A.V. , Herzyk, P., McMillan, M., Boroujerdi, M., Chudleigh, S., Tobias, E.S. and Ahmed, S.F. (2017) Androgen-responsive non-coding small RNAs extend the potential use of HCG stimulation as a bioassay of androgen sufficiency. European Journal of Endocrinology, (doi:10.1530/EJE-17-0404) (Early Online Publication)

Gazdagh, G., Tobias, E. S., Ahmed, S. F. and McGowan, R. (2016) Novel genetic associations and range of phenotypes in children with disorders of sex development and neurodevelopment: insights from the deciphering developmental disorders study. Sexual Development, 10(3), pp. 130-135. (doi:10.1159/000447958) (PMID:27598577) (PMCID:PMC5079067)

Tobias, A. P. and Tobias, E. S. (2015) Developing educational iPhone, Android and Windows smartphone cross-platform apps to facilitate understanding of clinical genomics terminology. Applied and Translational Genomics, 6, pp. 15-17. (doi:10.1016/j.atg.2015.08.001) (PMID:27054073) (PMCID:PMC4803764)

Kyriakou, A., Lucas-Herald, A. K., McGowan, R., Tobias, E. S. and Ahmed, S. F. (2015) Disorders of sex development: advances in genetic diagnosis and challenges in management. Advances in Genomics and Genetics, 5, pp. 165-177. (doi:10.2147/AGG.S53226)

McGowan, R. et al. (2015) DNA copy number variations are important in the complex genetic architecture of Müllerian disorders. Fertility and Sterility, 103(4), pp. 1021-1030. (doi:10.1016/j.fertnstert.2015.01.008) (PMID:25707337)

Terhal, P. A. et al. (2015) A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics Part A, 167(3), pp. 461-475. (doi:10.1002/ajmg.a.36922)

Peterlongo, P. et al. (2015) Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 24(1), pp. 308-316. (doi:10.1158/1055-9965.EPI-14-0532)

Kuchenbaecker, K. B. et al. (2015) Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics, 47(2), pp. 164-171. (doi:10.1038/ng.3185)

Pooley, K. A. et al. (2014) Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status. Cancer Epidemiology, Biomarkers and Prevention, 23(6), pp. 1018-1024. (doi:10.1158/1055-9965.EPI-13-0635-T)

Ahmed, F., Lucas-Herald, A., McGowan, R. and Tobias, E. (2014) 46,XX ovotesticular disorder of sex development. Orphanet,

Ahmed, F., Lucas-Herald, A., McGowan, R. and Tobias, E. (2014) 46,XX testicular disorder of sex development. Orphanet,

Tobias, E. S. and McElreavey, K. (2014) Next generation sequencing for disorders of sex development. Endocrine Development, 27, pp. 53-62. (doi:10.1159/000363615)

Tobias, E. (2013) Goldenhar syndrome. Contact a Family,

Mavaddat, N. et al. (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. Journal of the National Cancer Institute, 105(11), pp. 812-822. (doi:10.1093/jnci/djt095)

Gaudet, M. M. et al. (2013) Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genetics, 9(3), e1003173. (doi:10.1371/journal.pgen.1003173) (PMID:23544012) (PMCID:PMC3609647)

Gordon, C.T. et al. (2013) Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Journal of Medical Genetics, 50(3), pp. 174-186. (doi:10.1136/jmedgenet-2012-101331)

Lyall, D.A.M., Tobias, E.S., Srinivasan, S. and Willoughby, C. (2012) Bilateral keratoconus in tuberous sclerosis: is there a molecular link? Canadian Journal of Ophthalmology = Journal canadien d'ophtalmologie, 47(6), e41-e42.

Jakubowska, A. et al. (2012) Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. British Journal of Cancer, 106(12), pp. 2016-24. (doi:10.1038/bjc.2012.160)

Barnes, D.R. et al. (2012) Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genetic Epidemiology, 36(3), pp. 274-291. (doi:10.1002/gepi.21620)

Ramus, S.J. et al. (2012) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Human Mutation, 33(4), pp. 690-702. (doi:10.1002/humu.22025)

Mavaddat, N. et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology, Biomarkers and Prevention, 21(1), pp. 134-147. (doi:10.1158/1055-9965.EPI-11-0775)

Esden-Tempska, Z., Lewczuk, A., Tobias, E.S., Borozdin, W., Kohlhase, J. and Sworczak, K. (2012) Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene. Journal of Pediatric Endocrinology and Metabolism, 25(1-2), pp. 147-148. (doi:10.1515/JPEM.2011.400)

Kirchhoff, T. et al. (2012) Breast cancer risk and 6q22.33: combined results from breast cancer association consortium and consortium of investigators on modifiers of BRCA1/2. PLoS ONE, 7(6), e35706. (doi:10.1371/journal.pone.0035706)

Maia, A.T. et al. (2012) Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Research, 14(2), R63. (doi:10.1186/bcr3169)

Terhal, P.A. et al. (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160C(3), pp. 205-216. (doi:10.1002/ajmg.c.31332)

Yeap, P. M. et al. (2011) Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. Journal of Clinical Endocrinology and Metabolism, 96(12), E2009-E2013. (doi:10.1210/jc.2011-1244)

Antoniou, A.C. et al. (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20(16), pp. 3304-3321. (doi:10.1093/hmg/ddr226)

Cox, D. G. et al. (2011) Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human Molecular Genetics, 20(23), pp. 4732-4747. (doi:10.1093/hmg/ddr388)

Freeman, D. J. et al. (2011) Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER). BMC Geriatrics, 11, 8. (doi:10.1186/1471-2318-11-8) (PMID:21342490) (PMCID:PMC3053238)

Im, K.M. et al. (2011) Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Genetics, 130(5), pp. 685-699. (doi:10.1007/s00439-011-1003-z)

Lang, J., Tobias, E.S. and MacKie, R. (2011) Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma. British Journal of Dermatology, 164(5), pp. 1010-1016. (doi:10.1111/j.1365-2133.2011.10223.x)

Mulligan, A.M. et al. (2011) Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research, 13(6), R110. (doi:10.1186/bcr3052)

Rebbeck, T. R. et al. (2011) Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes. Cancer Research, 71(17), pp. 5792-5805. (doi:10.1158/0008-5472.CAN-11-0773)

Antoniou, A.C. et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42(10), pp. 885-892. (doi:10.1038/ng.669)

Vickers, A. et al. (2010) The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine. PLoS ONE, 5(10), e13363. (doi:10.1371/journal.pone.0013363)

Laugel, V. et al. (2010) Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome. Human Mutation, 31(2), pp. 113-126. (doi:10.1002/humu.21154)

Mitra, A. et al. (2009) Overexpression of RAD51 occurs in aggressive prostatic cancer. Histopathology, 55(6), pp. 696-704. (doi:10.1111/j.1365-2559.2009.03448.x)

Antoniou, A.C. et al. (2009) Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the international BRCA1/2 carrier cohort study. Cancer Epidemiology, Biomarkers and Prevention, 18(2), pp. 601-610. (doi:10.1158/1055-9965.EPI-08-0546)

Harland, M. et al. (2008) A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). European Journal of Cancer, 44(9), pp. 1269-1274. (doi:10.1016/j.ejca.2008.03.005)

Laugel, V., Dalloz, C., Tobias, E., Tolmie, J., Martin-Coignard, D., Drouin-Garraud, V., Valayannopoulos, V., Sarasin, A. and Dollfus, H. (2008) Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Journal of Medical Genetics, 45(9), pp. 564-571. (doi:10.1136/jmg.2007.057141)

Mefford, H.C. et al. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine, 359(16), pp. 1685-1699. (doi:10.1056/NEJMoa0805384)

Balsitis, M., Cooke, A., Griffiths, S., Onen, N.F., Shah, A.A., Stewart, W. , Traynor, J.P., Upadhyaya, M. and Tobias, E. S. (2007) Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. Familial Cancer, 6(1), pp. 147-152. (doi:10.1007/s10689-006-9002-2)

Coucke, P. et al. (2007) COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. American Journal of Medical Genetics Part A, 143A(2), pp. 161-167.

Goldgar, D., Hayward, N., Hogg, D., Lang, J., Mackie, R., Palmer, J., Stark, M., Tobias, E. and Tsao, H. (2007) The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46(3), pp. 277-287.

Lang, J., Hayward, N., Goldgar, D., Tsao, H., Hogg, D., Palmer, J., Stark, M., Tobias, E. and Mackie, R. (2007) The m531 mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46(3), pp. 277-287. (doi:10.1002/gcc.20410)

Spurdle, A.B. et al. (2005) The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research, 7(2), R176-R183. (doi:10.1186/bcr971)

D'Haens, E., Fery, F., Kayserilli, H., Kleijer, W., Maassen, J., Tobias, E., Tukel, T., van der Zon, G. and Yuksel-Apak, M. (2003) Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. Journal of Clinical Endocrinology and Metabolism, 88(9), pp. 4251-4257.

Tobias, E., Stephenson, J. and Tolmie, J. (2002) Cataplexy in the Prader-Willi syndrome. Archives of Disease in Childhood, 87(2), p. 170.

Barton, J., Bryce, G., Colgan, J., Cooke, A., Farmer, G., Morrison, N., Tobias, E. and Tolmie, J. (2001) Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. Journal of Medical Genetics, 38(7), pp. 466-469.

Hughes, K., Hurlstone, A., Tobias, E., McFarlane, R. and Black, D. (2001) Absence of ST7 mutations in tumor-derived cell lines and tumors. Nature Genetics, 29(4), pp. 380-381.

MacKenzie, J., Patrick, W., Tobias, E. and Whiteford, M. (2001) A case of acro-renal-mandibular syndrome in an 18 week male fetus. Clinical Dysmorphology, 10(1), pp. 61-64.

Tobias, E., Hurlstone, A., MacKenzie, E., McFarlane, R. and Black, D. (2001) The TES gene at 7q31,1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein. Oncogene, 20(22), pp. 2844-2853.

Tobias, E.S., Morrison, N., Whiteford, M.L. and Tolmie, J.L. (1999) Towards earlier diagnosis of 22q11 deletions. Archives of Disease in Childhood, 81(6), pp. 513-514. (doi:10.1136/adc.81.6.513)

Tobias, E.S., Rozengurt, E., Connell, J. and Houslay, M.D. (1997) Co-transfection with protein kinase D confers phorbol-ester-mediated inhibition on glucagon-stimulated cAMP accumulation in COS cells transfected to overexpress glucagon receptors. Biochemical Journal, 326(2), pp. 545-551.

Houslay, M.D. et al. (1995) Alternative splicing of the type-IVA cyclic AMP phosphodiesterase gene provides isoform variants with distinct N-terminal domains fused to a common, soluble catalytic unit: ‘designer’ changes in Vmax, stability and membrane association. Biochemical Society Transactions, 23, pp. 393-398.

Tobias, E.S., Mann, C., Bone, I., de Silva, R. and Ironside, J. (1994) A case of Creutzfeldt-Jakob disease presenting with cortical deafness. Journal of Neurology, Neurosurgery and Psychiatry, 57(7), pp. 872-873.

Tobias, E.S., Brodie, A.F. and Brodie, M.J. (1994) An outcome audit at the epilepsy clinic: results from 1000 consecutive referrals. Seizure, 3(1), pp. 37-43. (doi:10.1016/S1059-1311(05)80161-X)

Books

Tobias, E. S. and Connor, J. M. (2014) Medical Genetics for the MRCOG and Beyond. Cambridge University Press: Cambridge. ISBN 9781107661301

Tobias, E.S., Connor, J.M. and Ferguson-Smith, M. (2011) Essential Medical Genetics (6th edition). Series: Essentials. Wiley-Blackwell: Chichester, U.K.. ISBN 9781405169745

Book Sections

Tobias, E. (2016) Genetic counseling for childhood tumors and inherited cancer-predisposing syndromes. In: Carachi, R. and Grosfeld, J. (eds.) Surgery of Childhood Tumours. Springer-Verlag: Berlin. ISBN 9783662485880 (doi:10.1007/978-3-662-48590-3)

Murphy, K.M., Cooper, A. and Tobias, E.S. (2014) The human genome, gene regulation and genomic variation. In: Padmanabhan, S. (ed.) Handbook of Pharmacogenomics and Stratified Medicine. Academic Press: London, pp. 41-56. ISBN 9780123868824

Tobias, E. (2013) The molecular biology of cancer. In: Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (eds.) Emery and Rimoin's Essential Medical Genetics. Elsevier. ISBN 9780124072404

Tobias, E.S. (2013) The molecular biology of cancer. In: Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Academic: Oxford, UK, pp. 498-542. ISBN 9780123838346

Tobias, E.S. and Connor, J.M. (2008) Genetic counselling for childhood tumors and inherited cancer-predisposing syndromes. In: Carachi, R., Grosfeld, J.L. and Azmy, A.F.F. (eds.) The Surgery of Childhood Tumors. Springer: Berlin, pp. 33-48. ISBN 9783540297338

Tobias, E.S. (2007) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone Elsevier: Philadelphia. ISBN 9780443068706 (set)

Tobias, E.S. (2002) Questions on molecular medicine and genetics for the MRCP part 1. In: Basic Science MRCP Question Book. MPG Books: Bodmin.

Tobias, E.S. (2002) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone: London, UK. ISBN 9780443064340

Tobias, E.S. and Connor, M. (2000) Dyskeratosis congenita. In: Stevenson, R.E., Schwartz, C.E. and Schroer, R.J. (eds.) X-linked Mental Retardation. Series: Oxford monographs on medical genetics (39). Oxford University Press: Oxford, UK. ISBN 9780195129816

This list was generated on Sat Aug 19 12:10:15 2017 BST.