Professor Edward Tobias

  • Professor of Genetic Medicine (Medicine)

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

School of Medicine, Dentistry & Nursing, Academic Medical Genetics & Pathology,, Room L2/B/110, Lab Medicine Building, Queen Elizabeth University Hospital, Glasgow, G51 4TF

Import to contacts

ORCID iDhttps://orcid.org/0000-0003-2649-7695

Biography

Prof Edward Tobias is an educator and researcher in medical genetics and genomics. He is also an (honorary) consultant clinical geneticist in the NHS and is an active invited member of several international genomics committees.

Personal qualifications: BSc (1st class Hons), MBChB, MRCP, PhD (Molecular Biology), FRCP, FHEA, FAoP (Assocn. of Physicians).

He is the recipient of the Education Award 2021 of the European Society of Human Genetics and an invited co-chair, & sub-committee lead, of the Education Committee of the global Human Genome Organisation (HUGO International).

Education

Passionate about teaching & training, locally and globally, & having previously gained Fellowship of the UK Higher Education Academy, he is lead author of international textbooks, chapters, educational websites, smartphone apps, and courses, all used worldwide.

At the University of Glasgow, he is Clinical Director of the MSc in Medical Genetics & Genomics (which has now won UK, Scottish & university awards). He is also lead for the MSc programme's practical Clinical Genomics course and lead for the university's multi-award-winning undergraduate MBChB Genetics teaching. He was joint lead of the training workstrand of the £3.4m MRC/EPSRC Glasgow Molecular Pathology Node & joint Clinical Director of the MSc in Molecular Pathology and enjoys receiving genetics and genomics questions from students, on any course, at any level.

An enthusiastic innovator and eager to both create and fully utilise new technology, he invented (together with Adam Dundas) a 3D molecular-viewer virtual reality app for the education of bio-medical students. The app was shortlisted for a UK Technology & Innovation Award. He is also a member of an (award-winning) STEM public engagement team (led by Dr Saeeda Bhatti) and he has received four personal student-awarded teaching awards.  He is also a lead educator for two University of Glasgow Massive Open Online Courses (MOOCs) and an Expert-Track MOOC on the FutureLearn online platform. 

In relation to internationally-based work, as mentioned above, he is an invited co-chair, and sub-committee lead, of the Human Genome Organisation International Education Committee (led from the UK and Argentina) and an active member of the European Society of Human Genetics (ESHG) Education Committee. He is also a working group co-lead (with Angela Peron, Italy) for the Clinical Genetics and Genomics examination of the European Union of Medical Specialists. His educational genetics and genomics website (EuroGEMS.org) has been adopted by the ESHG and by HUGO-International as their principal online education source and has already been used in over 140 countries. 

In recognition of his international educational contributions, he was awarded the prestigious ESHG Education Award at their 2021 international conference. 

Research

He currently carries out research (into developmental genes) involving whole-genome DNA sequencing and long-read sequencing. He is Chief Investigator of a whole-exome and whole-genome sequencing study, a co-investigator on a £6m CSO/MRC-funded WGS Scottish Genomes Partnership and a collaborator with investigators at the Wellcome Trust Sanger Institute, Cambridge and at the Francis Crick Insitute, London. 

Previously, with a personal MRC Fellowship award, he undertook a PhD in the molecular biology of receptor signalling, followed by post-doctoral research in molecular cancer genetics & bioinformatics. After subsequent training in NHS Clinical Genetics, he won a GSK Senior Clinical Research Fellowship, funding his tumour suppressor gene research, publishing results in Nature Genetics.

Acknowledgement

He is enormously grateful to all of his colleagues in the university (including, in particular, the Medical Genetics & Genomics team) and in the NHS, past and present, for all of their invaluable assistance and support.

Research interests

Prof Tobias was one of the work-strand leaders (and one of the co-applicants) for the Glasgow Molecular Pathology Node (which received £3.4 million grant funding from the MRC and EPSRC). He is 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 benefited from further substantial funding and an extension, permitting WGS analysis on cutting-edge HiSeq X machines. As a co-investigator of the Scottish Genomes Partnership whole genome sequencing project (awarded a total of £6 million grant funding by the MRC and Scottish Executive Health Department) he aims to maximise the clinical and research benefits of next generation sequencing.

His research group has strong interests in the genetic basis of DSD conditions and he has multiple collaborators, for example at the Sanger Institute, Cambridge, and at London’s Francis Crick Institute. 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.

Publications

List by: Type | Date

Jump to: 2024 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2005 | 2003 | 2002 | 2001 | 2000 | 1999 | 1997 | 1995 | 1994
Number of items: 91.

2024

Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)

2021

Tobias, E. S. et al. (2021) The role of the European Society of Human Genetics in delivering genomic education. Frontiers in Genetics, 12, 693952. (doi: 10.3389/fgene.2021.693952) (PMID:34539735) (PMCID:PMC8446627)

Tobias, A. P., Berg, J., Cetnarskyj, R., Miedzybrodzka, Z., Porteous, M. E. and Tobias, E. S. (2021) Creation and worldwide utilisation of new COVID-19 online information hub for genetics health professionals, patients and families. Frontiers in Genetics, 12, 621683. (doi: 10.3389/fgene.2021.621683) (PMID:34305996) (PMCID:PMC8296805)

Nisselle, A. et al. (2021) Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genetics in Medicine, 23(7), pp. 1356-1365. (doi: 10.1038/s41436-021-01140-x) (PMID:33824503)

Martin, H. C. et al. (2021) The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12, 627. (doi: 10.1038/s41467-020-20852-3) (PMID:33504798) (PMCID:PMC7840967)

2020

Tobias, A. P. and Tobias, E. S. (2020) EuroGEMS.org: guide and links to online genetic and genomic educational resources, valuable for all levels. Human Mutation, 41(12), pp. 2021-2027. (doi: 10.1002/humu.24113) (PMID:32906220)

Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)

Pitz, V. , Malek, N., Tobias, E. S. , Grosset, K. A., Gentleman, S. and Grosset, D. G. (2020) The levodopa response varies in pathologically confirmed Parkinson's disease: a systematic review. Movement Disorders Clinical Practice, 7(2), pp. 218-222. (doi: 10.1002/mdc3.12885) (PMID:32071945)

Williamson, K. A. et al. (2020) Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genetics in Medicine, 22, pp. 598-609. (doi: 10.1038/s41436-019-0685-9) (PMID:31700164) (PMCID:PMC7056646)

2019

Gazdagh, G. E., Wang, C., McGowan, R., Tobias, E. S. and Ahmed, S. F. (2019) Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. Clinical Dysmorphology, 28(3), pp. 112-117. (doi: 10.1097/MCD.0000000000000275) (PMID:30921090)

Gazdagh, G., Blyth, M., Scurr, I., Turnpenny, P. D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R., Tobias, E. S. and Joss, S. (2019) Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. European Journal of Medical Genetics, 62(1), pp. 27-34. (doi: 10.1016/j.ejmg.2018.04.014) (PMID:29698805)

2018

Alimussina, M., Diver, L. A., McNeilly, J. D., Lucas-Herald, A. K. , Tobias, E. S. , McGowan, R. and Ahmed, S. F. (2018) Phenotypic and genetic assessment of boys with a suspected XY disorder of sex development. Hormone Research in Paediatrics, 90(Sup 1), p. 550. (doi: 10.1159/000492307)

De Ridder, J. et al. (2018) SDgeneMatch, a new tool to aid the identification of the genetic causes of DSD. Hormone Research in Paediatrics, 90(Sup 1), p. 540. (doi: 10.1159/000492307)

Gazdagh, G., McGowan, R., Ahmed, F. , DDD Study, and Tobias, E. (2018) Exomic sequencing uncovers novel genetic associations for Deciphering Developmental Disorders (DDD) study participants with hypospadias, cardiovascular and neurodevelopmental abnormalities. Hormone Research in Paediatrics, 90(Sup 1), p. 51. (doi: 10.1159/000492307)

Olley, G. et al. (2018) BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome. Nature Genetics, 50(3), pp. 329-332. (doi: 10.1038/s41588-018-0042-y) (PMID:29379197)

2017

Nixon, R., Cerqueira, V., Kyriakou, A., Lucas-Herald, A. , McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. , McGowan, R. and Ahmed, S.F. (2017) Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human Reproduction, 32(10), pp. 2130-2137. (doi: 10.1093/humrep/dex280) (PMID:28938747) (PMCID:PMC5850224)

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 of HCG stimulation to act as a bioassay of androgen sufficiency. European Journal of Endocrinology, 177(4), pp. 339-346. (doi: 10.1530/EJE-17-0404) (PMID:28733293)

Tessadori, F. et al. (2017) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. Nature Genetics, 49(11), pp. 1642-1646. (doi: 10.1038/ng.3956) (PMID:28920961)

Deciphering Developmental Disorders Study, (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542, pp. 433-438. (doi: 10.1038/nature21062) (PMID:28135719) (PMCID:PMC6016744)

2016

Meyer, E. et al. (2016) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics, 49(2), pp. 223-237. (doi: 10.1038/ng.3740) (PMID:27992417)

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, pp. 51-66. ISBN 9783662485880 (doi: 10.1007/978-3-662-48590-3_5)

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

Brown, C.E., O'Sullivan, D., Tennant, S., Dean, J., Murday, V., Oxnard, D., Hailey, H., Rankin, A.C., Tobias, E.S. and Delles, C. (2014) Cascade testing for long QT syndrome in Scotland. Scottish Medical Journal, 59(3), e27. (doi: 10.1177/0036933014540096)

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 (doi: 10.1016/B978-0-12-386882-4.00003-7)

Tobias, E. S. and Connor, J. M. (2014) Medical Genetics for the MRCOG and Beyond [2nd ed.]. Cambridge University Press: Cambridge. ISBN 9781107661301 (doi: 10.1017/CBO9781107444966)

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

Brown, C.E. et al. (2013) Predictors of QTc and QTc prolongation in the generation scotland family study. Journal of Human Hypertension, 27(10), p. 639. (doi: 10.1038/jhh.2013.72)

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

Brown, C., Murday, V., Oxnard, D., Anusas, J., Tobias, E.S. , Delles, C. and Findlay, I. (2013) Sudden death referrals to the West of Scotland Inherited Cardiac Conditions Clinic: an overview of findings in probands with a structurally normal heart. Scottish Medical Journal, 58(3), e40-e41. (doi: 10.1177/0036933013495794)

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. (doi: 10.1016/j.jcjo.2012.03.018) (PMID:23217510)

McGowan, R., Tydeman, G.T., Shaprio, D.S., Morrison, N.M., Logan, S.L., Balen, A.B., Ahmed, F.A., Deeny, M.D., Tolmie, J.T. and Tobias, E.S.T. (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

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) (PMID:22768030) (PMCID:PMC3387216)

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)

Tobias, E. S. , Yeap, P.M., Mavraki, E., Fletcher, A., Freel, M.E., Bradshaw, N., Murday, V.A., Perry, C. and Lindsay, R.S. (2011) Parent-of-origin effect in SDHD hereditary tumours explained by requirement for additional molecular steps. Journal of Medical Genetics, 48(S1), S102.

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) (PMID:20967219) (PMCID:PMC2954177)

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.

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

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 Sun Dec 1 20:03:55 2024 GMT.
Number of items: 91.

Articles

Tobias, E. S. et al. (2024) SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis. Endocrine, 84, pp. 345-349. (doi: 10.1007/s12020-024-03701-x) (PMID:38400880)

Tobias, E. S. et al. (2021) The role of the European Society of Human Genetics in delivering genomic education. Frontiers in Genetics, 12, 693952. (doi: 10.3389/fgene.2021.693952) (PMID:34539735) (PMCID:PMC8446627)

Tobias, A. P., Berg, J., Cetnarskyj, R., Miedzybrodzka, Z., Porteous, M. E. and Tobias, E. S. (2021) Creation and worldwide utilisation of new COVID-19 online information hub for genetics health professionals, patients and families. Frontiers in Genetics, 12, 621683. (doi: 10.3389/fgene.2021.621683) (PMID:34305996) (PMCID:PMC8296805)

Nisselle, A. et al. (2021) Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genetics in Medicine, 23(7), pp. 1356-1365. (doi: 10.1038/s41436-021-01140-x) (PMID:33824503)

Martin, H. C. et al. (2021) The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12, 627. (doi: 10.1038/s41467-020-20852-3) (PMID:33504798) (PMCID:PMC7840967)

Tobias, A. P. and Tobias, E. S. (2020) EuroGEMS.org: guide and links to online genetic and genomic educational resources, valuable for all levels. Human Mutation, 41(12), pp. 2021-2027. (doi: 10.1002/humu.24113) (PMID:32906220)

Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)

Pitz, V. , Malek, N., Tobias, E. S. , Grosset, K. A., Gentleman, S. and Grosset, D. G. (2020) The levodopa response varies in pathologically confirmed Parkinson's disease: a systematic review. Movement Disorders Clinical Practice, 7(2), pp. 218-222. (doi: 10.1002/mdc3.12885) (PMID:32071945)

Williamson, K. A. et al. (2020) Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genetics in Medicine, 22, pp. 598-609. (doi: 10.1038/s41436-019-0685-9) (PMID:31700164) (PMCID:PMC7056646)

Gazdagh, G. E., Wang, C., McGowan, R., Tobias, E. S. and Ahmed, S. F. (2019) Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. Clinical Dysmorphology, 28(3), pp. 112-117. (doi: 10.1097/MCD.0000000000000275) (PMID:30921090)

Gazdagh, G., Blyth, M., Scurr, I., Turnpenny, P. D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R., Tobias, E. S. and Joss, S. (2019) Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. European Journal of Medical Genetics, 62(1), pp. 27-34. (doi: 10.1016/j.ejmg.2018.04.014) (PMID:29698805)

Alimussina, M., Diver, L. A., McNeilly, J. D., Lucas-Herald, A. K. , Tobias, E. S. , McGowan, R. and Ahmed, S. F. (2018) Phenotypic and genetic assessment of boys with a suspected XY disorder of sex development. Hormone Research in Paediatrics, 90(Sup 1), p. 550. (doi: 10.1159/000492307)

De Ridder, J. et al. (2018) SDgeneMatch, a new tool to aid the identification of the genetic causes of DSD. Hormone Research in Paediatrics, 90(Sup 1), p. 540. (doi: 10.1159/000492307)

Gazdagh, G., McGowan, R., Ahmed, F. , DDD Study, and Tobias, E. (2018) Exomic sequencing uncovers novel genetic associations for Deciphering Developmental Disorders (DDD) study participants with hypospadias, cardiovascular and neurodevelopmental abnormalities. Hormone Research in Paediatrics, 90(Sup 1), p. 51. (doi: 10.1159/000492307)

Olley, G. et al. (2018) BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome. Nature Genetics, 50(3), pp. 329-332. (doi: 10.1038/s41588-018-0042-y) (PMID:29379197)

Nixon, R., Cerqueira, V., Kyriakou, A., Lucas-Herald, A. , McNeilly, J., McMillan, M., Purvis, A., Tobias, E.S. , McGowan, R. and Ahmed, S.F. (2017) Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human Reproduction, 32(10), pp. 2130-2137. (doi: 10.1093/humrep/dex280) (PMID:28938747) (PMCID:PMC5850224)

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 of HCG stimulation to act as a bioassay of androgen sufficiency. European Journal of Endocrinology, 177(4), pp. 339-346. (doi: 10.1530/EJE-17-0404) (PMID:28733293)

Tessadori, F. et al. (2017) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. Nature Genetics, 49(11), pp. 1642-1646. (doi: 10.1038/ng.3956) (PMID:28920961)

Deciphering Developmental Disorders Study, (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542, pp. 433-438. (doi: 10.1038/nature21062) (PMID:28135719) (PMCID:PMC6016744)

Meyer, E. et al. (2016) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics, 49(2), pp. 223-237. (doi: 10.1038/ng.3740) (PMID:27992417)

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)

Brown, C.E., O'Sullivan, D., Tennant, S., Dean, J., Murday, V., Oxnard, D., Hailey, H., Rankin, A.C., Tobias, E.S. and Delles, C. (2014) Cascade testing for long QT syndrome in Scotland. Scottish Medical Journal, 59(3), e27. (doi: 10.1177/0036933014540096)

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)

Brown, C.E. et al. (2013) Predictors of QTc and QTc prolongation in the generation scotland family study. Journal of Human Hypertension, 27(10), p. 639. (doi: 10.1038/jhh.2013.72)

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

Brown, C., Murday, V., Oxnard, D., Anusas, J., Tobias, E.S. , Delles, C. and Findlay, I. (2013) Sudden death referrals to the West of Scotland Inherited Cardiac Conditions Clinic: an overview of findings in probands with a structurally normal heart. Scottish Medical Journal, 58(3), e40-e41. (doi: 10.1177/0036933013495794)

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. (doi: 10.1016/j.jcjo.2012.03.018) (PMID:23217510)

McGowan, R., Tydeman, G.T., Shaprio, D.S., Morrison, N.M., Logan, S.L., Balen, A.B., Ahmed, F.A., Deeny, M.D., Tolmie, J.T. and Tobias, E.S.T. (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

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) (PMID:22768030) (PMCID:PMC3387216)

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)

Tobias, E. S. , Yeap, P.M., Mavraki, E., Fletcher, A., Freel, M.E., Bradshaw, N., Murday, V.A., Perry, C. and Lindsay, R.S. (2011) Parent-of-origin effect in SDHD hereditary tumours explained by requirement for additional molecular steps. Journal of Medical Genetics, 48(S1), S102.

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) (PMID:20967219) (PMCID:PMC2954177)

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.

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 [2nd ed.]. Cambridge University Press: Cambridge. ISBN 9781107661301 (doi: 10.1017/CBO9781107444966)

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, pp. 51-66. ISBN 9783662485880 (doi: 10.1007/978-3-662-48590-3_5)

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 (doi: 10.1016/B978-0-12-386882-4.00003-7)

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

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 Sun Dec 1 20:03:55 2024 GMT.

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 - 2018
     
  • The Scottish Genomes Partnership
    Chief Scientist Office
    2016 - 2019
     
  • Glasgow Molecular Pathology (GMP) Node
    Medical Research Council
    2015 - 2019
     
  • 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
     
  • Understanding variability in phenotype, and assessing the risk of serious cardiac events, in women and children with long QT syndrome.
    Glasgow Children`s Hospital Charity
    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, at the university and beyond.

INTERNATIONAL EDUCATIONAL COMMITTEES - INVITED MEMBERSHIP

He is an invited member of the Education Committee of the European Society of Human Genetics (ESHG) and co-chair (of the Education Committee of the international Human Genome Organisation (HUGO International).  He is a working-group co-lead and steering committee member for the ECMGG professional examination of the European Union of Medical Specialists (UEMS). In addition, international guidelines that he created with other members of a genomic education reporting-standards global committee, led from Melbourne, have been published in Genetics in Medicine.  

AWARDS

Interactive and innovative teaching by Prof Tobias led to him receiving “Best College Teacher Awards” in two consecutive years 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.

In addition, in 2014, he and his MSc Medical Genetics teaching colleagues won the 2014 UK Prospects Postgraduate Teaching Team Award and, in 2017, a Herald Scotland Higher Education award, as well as University of Glasgow College-level and University-level Teaching Excellence Awards.

At the undergraduate level, he was also a member (as lead for Genetics) of the Year 3 MBChB teaching team that, in 2017, won a Teaching Excellence Award. He is a member of a 2017-award-winning STEM public engagement team and was honoured to receive another award, from a class of 300 final-year medical students (in May 2018).  

He co-created a 3D molecule viewer virtual reality app (compatible with the international Protein Data Bank) for the education of bio-medical students, a finalist in the Technology & Innovation category of the UK Times Higher Education Awards 2020.

He is the recipient of the European Society of Human Genetics (ESHG) Education Award 2021. Please see Additional Information for a list showing other teaching awards received (although it is currently being updated). 

INTERNATIONAL TEXTBOOKS & CHAPTERS

Prof Tobias is the lead author 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 also the lead author of another textbook on medical genetics, for specialists, entitled: Medical Genetics for the MRCOG and Beyond, 2nd edition.

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), a chapter on next generation sequencing (Karger), a chapter on inherited cancer syndromes (Springer) and a 60-page chapter on the molecular biology of cancer in an international medical genetics reference book (Principles & Practice of Medical Genetics, Elsevier).

EDUCATIONAL APPS USED WORLDWIDE

He designed 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 approximately 60 countries worldwide. These apps have been endorsed by clinical and laboratory professionals in many countries as well as by international specialist organisations such as the European Society of Human Genetics (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. The apps were shortlisted in the Herald Higher Education Awards for Scotland, in the Innovation Technology Excellence Award category and currently being expanded.

He has published three further educational apps: Inheritance Quiz apps A, B and C, for undergraduate students, on both App Stores. More recently, as mentioned above, the 3D Molecule Viewer virtual reality app for the education of bio-medical students, that he co-created, was a finalist for the UK Technology & Innovation Times Higher Education Award 2020. Students’ comments included: “highly engaging”, “hugely enjoyable and informative” and “a game-changer in the future of biology teaching”.

EDUCATIONAL WEBSITE

He has recently created an educational genetics & genomics website that is freely accessible at www.EuroGEMS.org which has already provided resource guidance to thousands of visitors from over 100 countries. The website was fully endorsed by the ESHG Executive and Board and has since been adopted by the ESHG as their principal online education source. It has already been professionally translated into Spanish, Portuguese and French at the request of the ESHG, and continues to be updated.

REVIEWING & EXTERNAL EXAMINING

He has reviewed documents for many publishers and research grant providers e.g. Elsevier Press, British Medical Journal, Nature.com, Oxford University Press, the Wellcome Trust and the Medical Research Council. He has served as an Educational Advisor for Southampton University and an external examiner and reviewer for postgraduate medical genetics & genomics at Aberdeen, Dundee, Edinburgh, Newcastle and Malta universities. He is currently external examiner for the PGCert in Clinical Bioinformatics at the University of Manchester.

GENETICS & GENOMICS TEACHING in GLASGOW & BEYOND

At the University of Glasgow, he is the lead for the undergraduate curriculum in medical genetics for MBChB and has co-written the new genetics curriculum for Scotland. For that course, he created and delivered a new series of interactive lectures and case-based learning sessions, leading to the multiple awards mentioned above. Please also 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 relatively new 5-week Clinical Genomics and practical bioinformatics course (with 40-60 students). He is also Clinical Director of the GCRB-accredited MSc in Genetic & Genomic Counselling (currently paused) and was joint Clinical Director of the MSc in Molecular Pathology

He is also lead educator for two new University of Glasgow Massive Open Online Courses (MOOCs): Genomic Medicine: Harnessing the Power of the Human Genome and Understanding Genetic Disorders: How DNA Influences Health and an educator on the Cancer in the 21st Century: The Genomic Revolution MOOC, teaching many thousands of students, in over 100 countries, worldwide. 

ACKNOWLEDGEMENT

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

Professional activities & recognition

Prizes, awards & distinctions

  • 2018: Medical student teaching award (Final year GU students)
  • 2017: Finalist in the Innovation Technology Excellence award category (Clinical Genomics Apps for Smartphones and Tablets: Edward & Adam Tobias) (Herald Higher Education Awards for Scotland)
  • 2017: Winning entry in the Enhancing Student Learning category (Closing the Feedback Loop: Leah Marks, Maria Jackson & Edward Tobias) (Herald Higher Education Awards for Scotland)
  • 2017: Poster presentation prize awarded to one of Prof Tobias's post-graduate research students, Dr Gabriella Gazdagh. Co-authors: R McGowan, SF Ahmed, DDD study & ES Tobias (Biotexcel NGS 2017 conference)
  • 2017: Team MVLS Teaching Excellence Award (won by the MBChB Year 3 Teaching Team; personal involvement: Lead for Genetics) (College of Medical, Veterinary & Life Sciences)
  • 2017: Individual Finalist in SRC Student Teaching Award category: Best College Teacher in MVLS (Student Representative Council, University of Glasgow)
  • 2017: Individual Finalist: SRC Student Teaching Award - Best Online Learning Experience (Student Representative Council, University of Glasgow)
  • 2016: Team Finalist (University of Glasgow Medical Genetics Teaching Team) (Herald Higher Education Awards for Scotland)
  • 2016: Individual Finalist: SRC Student Teaching Award in the category of Outstanding Contribution to Teaching (Student Representative Council, University of Glasgow)
  • 2015: Individual Finalist: in SRC Student Teaching Award in the category of Outstanding Contribution to Teaching (Student Representative Council, University of Glasgow)
  • 2014: Best Post-graduate Teaching Team (MSc Medical Genetics), Award winners - Manchester (Prospects UK)
  • 2014: Winner of SRC Student Teaching Award for "Best College Teacher, MVLS" (Student Representative Council, University of Glasgow)
  • 2014: Teaching Excellence Award (from the University Principal; awarded to the MSc Medical Genetics teaching team members) (University of Glasgow)
  • 2014: Teaching Excellence Award to the MSc Medical Genetics Teaching Team (College of MVLS)
  • 2013: Post-graduate Teaching Team (MSc Medical Genetics), Finalists Award - Manchester (Prospects UK)
  • 2013: Research prize to PhD student, Catriona Brown, for her analysis and presentation regarding cardiac causes of sudden death. (Royal Medico-Chirurgical Society of Glasgow)
  • 2013: SRC Student Teaching Awards: winner of award for Best College Teacher, MVLS, following detailed nominations from approximately 40 students. (Student Representative Council, University of Glasgow)
  • 2012: Teaching Excellence Award, for a Career Distinguished by a Significant and Sustained Commitment to Excellence (University of Glasgow)
  • 2012: SRC Student Teaching Award for Best Teacher MVLS (shortlisted) following detailed nominations from approximately 20 students. (Student Representative Council, University of Glasgow)
  • 2012: Winner of SRC StudentTeaching Award for Best Subject Area - Medical Genetics. (Student Representative Council, University of Glasgow)
  • 2011: 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. (British Society for Human Genetics)
  • 2009: Grading of melanoma gene work as Excellent/clearly outstanding by the Chief Scientist Office Scientific Committee. (Scottish Executive Health Department)
  • 2008: Prize to a postgraduate student for the analysis of BRCA1 and BRCA2 variants by computational methods. (Scottish Breast Cancer Network Dundee)
  • 2007: Prize awarded for molecular genetic work on the role of the TES gene in breast cancer, by another student in Dr Tobias laboratory. (UK Women's Federation)

Research fellowships

  • 2012: Higher Education Academy

Professional & learned societies

  • 2018: Invited member, European Board of Medical Genetics
  • 2017: Invited to join (as the sole UK member) the Education Committee of the ESHG, with responsibilty for Educational Materials for that internationally renowned society, European Society of Human Genetics (ESHG)
  • 2016: representative for Glasgow University on the ScotGEN Steering Committee, Scottish Genetics Education Network (ScotGEN)
  • 2015: Invited to join the COST working group - Action BM1303 (DSDnet), planning pan-European online collaboration regarding clinical research-related NGS results, European Cooperation in Science & Technology (COST)
  • 2012: Elected as Member, Association of Physicians of Great Britain & Ireland
  • 2004: Elected Fellow, Royal College of Physicians

Supplementary

  • External examiner and advisor for postgraduate programmes at the Universities of Edinburgh, Manchester and Southampton - and for the new European Diploma examination in Medical Genetics and Genomics (Milan 2018, Gothenburg 2019 & Berlin 2020).

Research datasets

Jump to: 2019
Number of items: 1.

2019

Ross, K., Keith, N. , Aitchison, I., Allbutt, E., Banks, E., Basra, S., Bilsland, A., Charalambous, A., Chapal, C., Drummond, M., Dunipace, S., Erridge, A., Fremin-Besombes, M., Glasspool, R., Hamilton, V., Hanna, C. , Herfurth, L., Humpleby, M., Hush, G., Ivanova, Y., Jones, R. , Kaleta-Pyrek, A., Kalt, L., Kantor, M., Karolak, G., Keith, A., Klink, S., Laing, B., Lister, A., Mallon, E., Mccann, E., McLaughlin, R., Merchant, Z., Mozel, A., Mrozek, O., Painter, C., Paul, J. , Paxton, J., Perry, M. , Prendergast, E., Proudfoot, B., Raina, T., Roberts, F., Safrany, S., Scott, J., Sleight, R., Smith, C., Strain, E., Stricevic, M., Svanera, S., Tobias, E. , Vansteenhouse, H., Williams, N. and Zhang, H. (2019) A collaborative approach to exploring the future of Cancer treatment and care in relation to Precision Medicine: A design perspective. [Data Collection]

This list was generated on Mon Dec 2 17:02:06 2024 GMT.