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WormBase in 2022—data, processes, and tools for analyzing Caenorhabditis elegans P Davis, M Zarowiecki, V Arnaboldi, A Becerra, S Cain, J Chan, WJ Chen, ... Genetics 220 (4), iyac003, 2022 | 160 | 2022 |
Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’cohort D Grigoriadis, E Sackey, K Riches, M van Zanten, G Brice, R England, ... PLoS One 17 (10), e0274867, 2022 | 17 | 2022 |
Ensembl 2024 PW Harrison, MR Amode, O Austine-Orimoloye, AG Azov, M Barba, ... Nucleic Acids Research 52 (D1), D891-D899, 2024 | 13 | 2024 |
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts S Mansour, KS Josephs, P Ostergaard, K Gordon, M Van Zanten, ... Journal of Medical Genetics 60 (1), 84-90, 2023 | 9 | 2023 |
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes S Martin-Almedina, K Ogmen, E Sackey, D Grigoriadis, C Karapouliou, ... Genetics in Medicine 23 (7), 1315-1324, 2021 | 8 | 2021 |
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors YC Klimentidis, Z Chen, ML Gonzalez-Garay, D Grigoriadis, E Sackey, ... European Journal of Human Genetics 31 (3), 338-344, 2023 | 4 | 2023 |
WormBase 2024: status and transitioning to Alliance infrastructure PW Sternberg, K Van Auken, Q Wang, A Wright, K Yook, M Zarowiecki, ... Genetics 227 (1), iyae050, 2024 | 3 | 2024 |
BioHackEU23 report: Enabling FAIR Digital Objects with RO-Crate, Signposting and Bioschemas S Soiland-Reyes, LJ Castro, R Ravinder, C Weiland, J Grieb, A Rogers, ... OSF, 2024 | 1 | 2024 |
GSK3β and mTORC1 Represent 2 Distinct Signaling Markers in Peripheral Blood Mononuclear Cells of Drug-Naive, First Episode of Psychosis Patients P Petrikis, A Polyzou, K Premeti, A Roumelioti, A Karampas, G Georgiou, ... Schizophrenia Bulletin 48 (5), 1136-1144, 2022 | 1 | 2022 |
The TΑp63/BCL2 axis represents a novel mechanism of clinical aggressiveness in chronic lymphocytic leukemia S Laidou, D Grigoriadis, S Papanikolaou, S Foutadakis, S Ntoufa, ... Blood Advances 6 (8), 2646-2656, 2022 | 1 | 2022 |
A novel gene for autosomal dominant primary lymphoedema (PL) E Sackey, D Pirri, K Ogmen, SM Almedina, R Moy, S Dobbins, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 13-13, 2024 | | 2024 |
Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspective. K Ogmen, S Dobbins, I Martinez-Corral, RY Behncke, RCS Brown, ... medRxiv, 2023.11. 02.23297090, 2023 | | 2023 |
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Functional investigation of possible pathogenic EPHB4 variants associated with lymphatic related fetal hydrops and hereditary haemorrhagic telangiectasia E Sackey, S Martin-Almedina, K Ogmen, D Grigoriadis, S Mansour, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 276-277, 2020 | | 2020 |