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Genes|October 29, 2025
Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic VariabilitySunwoo Liv Lee, Alison Foster, Dalit May, 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.
Laboratory Investigation; a Journal of Technical Methods and Pathology|May 18, 2018
Mutation screening using formalin-fixed paraffin-embedded tissues: a stratified approach according to DNA qualityFrancesco Cucco, Alexandra Clipson, Hannah Kennedy, et al.
The Journal of Pathology|July 7, 2017
Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4-34 usage in mucosa-associated lymphoid tissue lymphomaSarah Moody, Leire Escudero-Ibarz, Ming Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2025
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and miceEguzkine Ochoa, Ilona Zvetkova, Sunwoo Liv Lee, et al.
Scientific Reports|July 17, 2019
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practiceRuth T Casey, Rogier Ten Hoopen, Eguzkine Ochoa, et al.
Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
Clinical and Experimental Rheumatology|August 29, 2015
Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosisEguzkine Ochoa, José-Ezequiel Martin, Shervin Assasi, et al.
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