Eamonn R. Maher

Research interests

Publications

• Whole-genome sequencing of patients with rare diseases in a national health system

  Nature · 2020 · https://doi.org/10.1038/s41586-020-2434-2

• Germline selection shapes human mitochondrial DNA diversity

  Science · 2019 · https://doi.org/10.1126/science.aau6520

• Cancer Risks Associated With GermlinePALB2Pathogenic Variants: An International Study of 524 Families

  Journal of Clinical Oncology · 2019 · https://doi.org/10.1200/jco.19.01907

• Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

  Nature Reviews Endocrinology · 2016 · https://doi.org/10.1038/nrendo.2016.185

• Health and population effects of rare gene knockouts in adult humans with related parents

  Science · 2016 · https://doi.org/10.1126/science.aac8624

• Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

  Nature Communications · 2015 · https://doi.org/10.1038/ncomms9086

• Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

  Endocrine Related Cancer · 2014 · https://doi.org/10.1530/erc-14-0254

• Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

  Familial Cancer · 2014 · https://doi.org/10.1007/s10689-014-9735-2

• Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

  The Lancet · 2011 · https://doi.org/10.1016/s0140-6736(11)61049-0

• Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

  The Lancet Neurology · 2010 · https://doi.org/10.1016/s1474-4422(10)70269-6

• Birt-Hogg-Dubé syndrome: diagnosis and management

  The Lancet Oncology · 2009 · https://doi.org/10.1016/s1470-2045(09)70188-3

• An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

  The Lancet Oncology · 2009 · https://doi.org/10.1016/s1470-2045(09)70164-0

• A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

  Nature Genetics · 2008 · 10.1038/ng.111

• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1325

• Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

  Cancer Cell · 2002 · https://doi.org/10.1016/s1535-6108(02)00104-6

• Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein

  Journal of Biological Chemistry · 2000 · https://doi.org/10.1074/jbc.m002740200

• The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

  Nature · 1999 · https://doi.org/10.1038/20459

Current projects

No projects listed.