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Nature Reviews. Disease Primers|June 29, 2023
Imprinting disordersThomas Eggermann, David Monk, Guiomar Perez de Nanclares, et al.
Gastroenterology|April 28, 2009
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYHNatalie Jones, Stefanie Vogt, Maartje Nielsen, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
Lancet (London, England)|July 11, 2003
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYHJulian R Sampson, Sunil Dolwani, Sian Jones, et al.
Oncogene|September 25, 2007
Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancerW N Cooper, R E Dickinson, A Dallol, et al.
Cancer Cell|July 19, 2002
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephronStefano J Mandriota, Kevin J Turner, David R Davies, et al.
Human Molecular Genetics|March 24, 2022
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau diseaseAvgi Andreou, Bryndis Yngvadottir, Laia Bassaganyas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbanceEguzkine Ochoa, Sunwoo Lee, Benoit Lan-Leung, et al.
European Journal of Human Genetics : EJHG|July 5, 2023
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylomeSunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, et al.
Clinical Epigenetics|March 1, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approachLarissa Bilo, Eguzkine Ochoa, Sunwoo Lee, et al.
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