Background

Eamonn Maher is Professor of Medical Genetics, Genomic Medicine and Honorary Consultant in Clinical Genetics and NIHR Clinical Research Network National Specialty Lead for Genetics.  Prior to taking up this post in 2013 he was Professor of Medical Genetics and Academic Lead for the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham. Eamonn has published around 400 research papers in scientific journals as well as reviews and book chapters in the fields of cancer genetics, human developmental genetics, epigenetics and genomic imprinting. He has a particular interest in research training for clinician and non-clinician scientists and had supervised more than 25 PhD or MD students to completion. Current research in Eamonn’s group relates to the molecular basis of inherited forms of renal cell carcinoma (supported by an ERC Advanced Researcher Award 2013-2018), phaeochromocytoma, multiple primary cancers, genomic imprinting disorders (www.ingenium-itn.eu) and developmental disorders. Eamonn is the Programme Director for the MPhil/MSt in Genomic Medicine course and the associated postgraduate certificate and diploma.

Key Publications

Whole-genome sequencing of patients with rare diseases in a national health system.  Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, et al. Nature. 2020 Jul;583(7814):96-102

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.  Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, et al.  Eur Urol Oncol. 2020 Dec;3(6):764-772

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.  Casey RT, McLean MA, Challis BG, McVeigh TP, Warren AY, Mendil L, et al.  Clin Cancer Res. 2020 Jan 15;26(2):391-396

MethylCal: Bayesian calibration of methylation levels.  Ochoa E, Zuber V, Fernandez-Jimenez N, Bilbao JR, Clark GR, Maher ER, Bottolo L et al.  Nucleic Acids Res. 2019 Aug 22;47(14):e81

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.  Casey RT, McLean MA, Madhu B, Challis BG, Ten Hoopen R, Roberts T, et al.  JCO Precis Oncol. 2018 Mar 29;2:1-12

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.  Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Lancet. 2019 Feb 23;393(10173):747-757

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.  Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.  Nat Rev Genet. 2019 Apr;20(4):235-248

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.  Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G et al.  Am J Hum Genet. 2018 Jul 5;103(1):3-18

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.  Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al.  Nat Rev Endocrinol. 2018 Apr;14(4):229-249

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.  Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, et al.  Am J Hum Genet. 2017 May 4;100(5):706-724

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.  Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, et al.  Nature. 2016 Aug 31;537(7621):544-547

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.  Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, et al.  Cell. 2016 Aug 25;166(5):1215-1230.e20

Health and population effects of rare gene knockouts in adult humans with related parents.  Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, et al. Science. 2016 Apr 22;352(6284):474-7

Google Scholar Profile: https://scholar.google.co.uk/citations?hl=en&user=CUObac0AAAAJ&view_op=list_works