Maher, Eamonn R.

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

Maxwell, P. H., Wiesener, M. S., Chang, G.-W., Clifford, S. C., Vaux, E. C., Cockman, M. E., Wykoff, C. C., Pugh, C. W., Maher, E. R., & Ratcliffe, P. J. (1999) · Nature

Cancer, Hypoxia, and MetabolismErythropoietin and Anemia Treatment

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Astuti, D., Latif, F., Dallol, A., Dahia, P. L. M., Douglas, F., George, E., Sköldberg, F., Husebye, E. S., Eng, C., & Maher, E. R. (2001) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 1,087

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

Sciacovelli, M., Gonçalves, E., Johnson, T. I., Zecchini, V. R., da Costa, A. S. H., Gaude, E., Drubbel, A. V., Theobald, S. J., Abbo, S. R., Tran, M. G. B., et al. (2016) · Nature

Cancer, Hypoxia, and MetabolismEpigenetics and DNA Methylation

Cited by 584

HIF activation identifies early lesions in VHL kidneys

Mandriota, S. J., Turner, K. J., Davies, D. R., Murray, P. G., Morgan, N. V., Sowter, H. M., Wykoff, C. C., Maher, E. R., Harris, A. L., Ratcliffe, P. J., et al. (2002) · Cancer Cell

Cancer, Hypoxia, and MetabolismRenal cell carcinoma treatment

Cited by 483

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 370

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

The COGENT Consortium, Houlston, R. S., The CORGI Consortium, The COIN Collaborative Group, The COINB Collaborative Group, Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic factors in colorectal cancer

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The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity

Damgaard, R. B., Walker, J. A., Marco-Casanova, P., Morgan, N. V., Titheradge, H. L., Elliott, P. R., McHale, D., Maher, E. R., McKenzie, A. N. J., & Komander, D. (2016) · Cell

NF-κB Signaling PathwaysUbiquitin and proteasome pathways

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

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Germline SDHD mutation in familial phaeochromocytoma

Astuti, D., Douglas, F., Lennard, T. W., Aligianis, I. A., Woodward, E. R., Evans, D. G. R., Eng, C., Latif, F., & Maher, E. R. (2001) · The Lancet

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 246

DNA Methylation: a form of epigenetic control of gene expression

Lim, D. H. K., & Maher, E. R. (2010) · The Obstetrician & Gynaecologist

Epigenetics and DNA MethylationGenetic Syndromes and Imprinting

Cited by 155

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

Aligianis, I. A., Forshew, T., Johnson, S., Michaelides, M., Johnson, C. A., Trembath, R. C., Hunt, D. M., Moore, A. T., & Maher, E. R. (2002) · Journal of Medical Genetics

Retinal Development and DisordersPhotoreceptor and optogenetics research

Cited by 130

Predisposition to cancer in children and adolescents

Kratz, C. P., Jongmans, M. C., Cavé, H., Wimmer, K., Behjati, S., Guerrini-Rousseau, L., Milde, T., Pajtler, K. W., Golmard, L., Gauthier-Villars, M., et al. (2021) · The Lancet Child & Adolescent Health

BRCA gene mutations in cancerGenomics and Rare Diseases

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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Nicholas, A. K., Serra, E. G., Cangul, H., Alyaarubi, S., Ullah, I., Schoenmakers, E., Deeb, A., Habeb, A. M., Almaghamsi, M., Peters, C., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

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Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

Formenti, F., Beer, P. A., Croft, Q. P. P., Dorrington, K. L., Gale, D. P., Lappin, T. R. J., Lucas, G. S., Maher, E. R., Maxwell, P. H., McMullin, M. F., et al. (2011) · The FASEB Journal

Cancer, Hypoxia, and MetabolismPulmonary Hypertension Research and Treatments

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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Cangul, H., Liao, X.-H., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P., Iwayama, H., Serra, E. G., Saglam, H., Eren, E., et al. (2018) · JCI Insight

Thyroid Disorders and TreatmentsChemical Analysis and Environmental Impact

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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