{"entity": "researcher", "timestamp": "2026-08-20T20:36:34.177Z", "family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "affiliations": ["Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa"}}, "publications": [{"entity": "publication", "iuid": "1ca810eb4a464acd9c1135079b705e9f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1ca810eb4a464acd9c1135079b705e9f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1ca810eb4a464acd9c1135079b705e9f"}}, "title": "Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.", "authors": [{"family": "Tesi", "given": "Bianca", "initials": "B", "orcid": "0000-0002-8253-2507", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d54bd9449574d829a096eb7b0bbe826.json"}}, {"family": "Robelius", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d37bf77253344a92968b4adb46c6f98c.json"}}, {"family": "Baskin", "given": "Berivan", "initials": "B", "orcid": "0000-0001-5994-9868", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/208c9890e6734dd2a128fdaca3fafea6.json"}}, {"family": "Lazarevic", "given": "Vladimir", "initials": "V", "orcid": "0000-0002-1782-4423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f33c39109f2469fad15c5265560be69.json"}}, {"family": "Deneberg", "given": "Stefan", "initials": "S", "orcid": "0000-0003-1888-5567", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed631edb31ba4d40bf4f9911576adbb5.json"}}, {"family": "H\u00f6glund", "given": "Martin", "initials": "M", "orcid": "0000-0003-2468-0226", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b04dde8160944595a255121a2571d2da.json"}}, {"family": "Fogelstrand", "given": "Linda", "initials": "L", "orcid": "0000-0003-3698-8519", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b55329d89c6f43918053de8fe50f0d02.json"}}, {"family": "Ungerstedt", "given": "Johanna", "initials": "J", "orcid": "0000-0002-0202-7296", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2ca02a25d0d414bb4ec81978ec50083.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T", "orcid": "0009-0006-9032-4616", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e91e7d27d224755bb765dd5a6ffb93f.json"}}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee9bc9b141be467093fd27454e8dcc6f.json"}}, {"family": "Garelius", "given": "Hege Gravdahl", "initials": "HG", "orcid": "0000-0003-2553-7659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e37c4fca27f4cdbaca481df7cf296b2.json"}}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E", "orcid": "0009-0009-3347-6658", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6db306b5e8c24cc3b9b2c15600de91ea.json"}}, {"family": "Persson", "given": "Fredrik", "initials": "F", "orcid": "0000-0002-5374-4770", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5355c3a8a34e4d5085399541179d777b.json"}}, {"family": "\u00c5gerstam", "given": "Helena", "initials": "H", "orcid": "0009-0002-8216-3876", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88a9fb7dad5c459d855ae482e70bcc73.json"}}, {"family": "Hallb\u00f6\u00f6k", "given": "Helene", "initials": "H", "orcid": "0000-0002-5764-3213", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d58bc3bea9f34f659c0a622f4c5d01b8.json"}}, {"family": "Fioretos", "given": "Thoas", "initials": "T", "orcid": "0000-0002-3235-6154", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/34c176e18c654f5d9adc7b360640ced8.json"}}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Norberg", "given": "Anna", "initials": "A", "orcid": "0000-0003-2947-8879", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a4fc86d9fa4740cd94c14f927efa68f4.json"}}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0000-0002-4018-5551", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bec23259b4834998952ec6aa9a44a778.json"}}, {"family": "Lehmann", "given": "S\u00f6ren", "initials": "S", "orcid": "0000-0001-8374-8978", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/43d133286866496496243fdef32c300e.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb.json"}}, {"family": "Barbany", "given": "Gisela", "initials": "G", "orcid": "0000-0003-3185-2962", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8495484de2f4a22b7d7750d503fdf24.json"}}, {"family": "Vennstr\u00f6m", "given": "Lovisa", "initials": "L", "orcid": "0009-0002-7300-5438", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dff45c31631a4f15abb349b28d516ab8.json"}}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E", "orcid": "0009-0009-8190-1073", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be8e641d2401406996ceacfed8c25d5b.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa2064616ff6495cb32d646823f0f8fc.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J", "orcid": "0009-0001-0668-607X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc8b87e1de554c99a7923bd7bc3caafa.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4eec9a58630e4c6eb3596e184f8918d1.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}], "type": "journal article", "published": "2025-07-15", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "volume": "31", "issue": "14", "pages": "3062-3071", "issn-l": "1078-0432"}, "abstract": "In a multicenter prospective cohort study, we assessed the diagnostic yield of the Nordic guidelines for germline investigation in myeloid neoplasms and mapped the spectrum of inherited and somatic variants.\n\nEighty-five patients (acute myeloid leukemia, n = 38; myelodysplastic syndromes, n = 26; thrombocytopenia, n = 14; and other, n = 7) fulfilling the Nordic criteria for germline investigation, based on (i) medical history or family history suggestive of a germline condition and (ii) relevant findings from the somatic diagnostic work-up (CytoMol), were recruited. The genetic analysis included enhanced whole-exome sequencing (n = 69) or sequencing of specific variants of interest (n = 16).\n\nPathogenic or likely pathogenic (P/LP) germline variants were identified in 35% of patients (30/85). The diagnostic yield varied from 6% (1/16) in the family history group to 52% (17/33) in the CytoMol group. Germline DDX41 P/LP variants were the most frequent finding (13/30, 43% of all positive cases) almost exclusively found within the CytoMol group (12/13). Seven variants of unknown significance were also detected (TERT n = 2 and DDX41, RTEL1, ETV6, PARN, and SAMD9 n = 1). Five patients carried a P/LP variant in genes associated with another hereditary cancer syndrome (BRCA1 n = 3; PALB2 n = 1; and CHEK2; n = 1). Survival analysis showed a trend for longer survival among patients with acute myeloid leukemia and confirmed or suspected germline predisposition that underwent allogeneic stem cell transplantation.\n\nThe implementation of the Nordic guidelines in a prospective Swedish cohort results in a high overall diagnostic yield (35%), proving the feasibility and utility of these or similar guidelines in a clinical setting.", "doi": "10.1158/1078-0432.CCR-24-4251", "pmid": "40388595", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12260513"}, {"db": "pii", "key": "762516"}], "notes": [], "created": "2026-08-20T12:12:24.777Z", "modified": "2026-08-20T12:12:25.694Z"}, {"entity": "publication", "iuid": "423e19a9f50f4ce787723017cade475a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/423e19a9f50f4ce787723017cade475a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/423e19a9f50f4ce787723017cade475a"}}, "title": "Using evolutionary constraint to define novel candidate driver genes in medulloblastoma.", "authors": [{"family": "Roy", "given": "Ananya", "initials": "A"}, {"family": "Sakthikumar", "given": "Sharadha", "initials": "S"}, {"family": "Kozyrev", "given": "Sergey V", "initials": "SV"}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Pensch", "given": "Raphaela", "initials": "R", "orcid": "0000-0002-0313-8369", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ca3190f9abf5474fae557aa4c8bbea3d.json"}}, {"family": "M\u00e4kel\u00e4inen", "given": "Suvi", "initials": "S"}, {"family": "Pettersson", "given": "Mats", "initials": "M", "orcid": "0000-0002-7372-9076", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a2310759fe6e4fd0b4a48ba9c35d3f84.json"}}, {"family": "Zoonomia Consortium", "given": "", "initials": ""}, {"family": "Karlsson", "given": "Elinor K", "initials": "EK", "orcid": "0000-0002-4343-3776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b5c82fcb904394b6a6b1d811863fa0.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}, {"family": "Forsberg-Nilsson", "given": "Karin", "initials": "K"}], "type": "journal article", "published": "2023-08-15", "journal": {"title": "Proc. Natl. Acad. Sci. U.S.A.", "issn": "1091-6490", "volume": "120", "issue": "33", "pages": "e2300984120", "issn-l": "0027-8424"}, "abstract": "Current knowledge of cancer genomics remains biased against noncoding mutations. To systematically search for regulatory noncoding mutations, we assessed mutations in conserved positions in the genome under the assumption that these are more likely to be functional than mutations in positions with low conservation. To this end, we use whole-genome sequencing data from the International Cancer Genome Consortium and combined it with evolutionary constraint inferred from 240 mammals, to identify genes enriched in noncoding constraint mutations (NCCMs), mutations likely to be regulatory in nature. We compare medulloblastoma (MB), which is malignant, to pilocytic astrocytoma (PA), a primarily benign tumor, and find highly different NCCM frequencies between the two, in agreement with the fact that malignant cancers tend to have more mutations. In PA, a high NCCM frequency only affects the BRAF locus, which is the most commonly mutated gene in PA. In contrast, in MB, >500 genes have high levels of NCCMs. Intriguingly, several loci with NCCMs in MB are associated with different ages of onset, such as the HOXB cluster in young MB patients. In adult patients, NCCMs occurred in, e.g., the WASF-2/AHDC1/FGR locus. One of these NCCMs led to increased expression of the SRC kinase FGR and augmented responsiveness of MB cells to dasatinib, a SRC kinase inhibitor. Our analysis thus points to different molecular pathways in different patient groups. These newly identified putative candidate driver mutations may aid in patient stratification in MB and could be valuable for future selection of personalized treatment options.", "doi": "10.1073/pnas.2300984120", "pmid": "37549291", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10438395"}], "notes": [], "created": "2026-08-20T09:31:26.073Z", "modified": "2026-08-20T09:31:26.234Z"}, {"entity": "publication", "iuid": "6d631c4b328243558ddca15f46932a2a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6d631c4b328243558ddca15f46932a2a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6d631c4b328243558ddca15f46932a2a"}}, "title": "Author Correction: Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.", "authors": [{"family": "Mathioudaki", "given": "Argyri", "initials": "A"}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Melin", "given": "Malin", "initials": "M"}, {"family": "Arendt", "given": "Maja Louise", "initials": "ML"}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Mur\u00e9n", "given": "Eva", "initials": "E"}, {"family": "Saksena", "given": "Pushpa", "initials": "P"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/851b95a56b3244fb9bc7cec8294e7ae7.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "published erratum", "published": "2021-03-01", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "11", "issue": "1", "pages": "5310", "issn-l": "2045-2322"}, "abstract": null, "doi": "10.1038/s41598-021-84929-9", "pmid": "33649492", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7921395"}, {"db": "pii", "key": "10.1038/s41598-021-84929-9"}], "notes": [], "created": "2026-08-20T09:05:18.110Z", "modified": "2026-08-20T09:05:18.182Z"}, {"entity": "publication", "iuid": "96454a1397bc498088524ab353dfaadb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/96454a1397bc498088524ab353dfaadb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/96454a1397bc498088524ab353dfaadb"}}, "title": "A new long-read dog assembly uncovers thousands of exons and functional elements missing in the previous reference", "authors": [{"family": "Wang", "given": "Chao", "initials": "C", "orcid": "0000-0003-3936-4023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfac9dfcdfc04a88b002ffe4ee8a5bb4.json"}}, {"family": "Wallerman", "given": "Ola", "initials": "O", "orcid": "0000-0003-1037-7904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/567836f4582a4f79b9fbb362c656b8c9.json"}}, {"family": "Arendt", "given": "Maja Louise", "initials": "ML", "orcid": "0000-0003-1404-172X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f488b6df9c149a3bf6a26be886073cc.json"}}, {"family": "Sundstr\u00f6m", "given": "Elisabeth", "initials": "E", "orcid": "0000-0001-9526-8541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b7ba04d84aa2401da56c1b438d7ee741.json"}}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0003-0198-4796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a000fad9c474ed09fdc5c136d3f0493.json"}}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "M\u00e4kel\u00e4inen", "given": "Suvi", "initials": "S", "orcid": "0000-0001-7378-4991", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f7781ef7a4f4e9daa8621c0f9910180.json"}}, {"family": "Pielberg", "given": "Gerli Rosengren", "initials": "GR", "orcid": "0000-0001-5582-7054", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e85a82d4887740cca6450039a1025043.json"}}, {"family": "Hanson", "given": "Jeanette", "initials": "J", "orcid": "0000-0001-5596-9538", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d5cbb6bf2a24ba7a809f822d450acb3.json"}}, {"family": "Ohlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-7735-7919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f98b0d8854e0431881c5ce2179d4383b.json"}}, {"family": "Saellstr\u00f6m", "given": "Sara", "initials": "S", "orcid": "0000-0001-5253-5830", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85a961c79c6541a99bd227f3846fc56b.json"}}, {"family": "R\u00f6nnberg", "given": "Henrik", "initials": "H", "orcid": "0000-0001-6098-5364", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/46c497dfc2b3477b95906859a654cf41.json"}}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf94e422f2bf4db3a4c873b9882ca4c6.json"}}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72f5852ea390478a8f8dcaa0a4d8390c.json"}}, {"family": "Bergstr\u00f6m", "given": "Tomas F", "initials": "TF", "orcid": "0000-0002-7480-2669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f503392d65ac4ab1a4b1d459ea0f37bb.json"}}, {"family": "Hedhammar", "given": "\u00c5ke", "initials": "\u00c5", "orcid": "0000-0001-7048-3851", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04f22152817b4e3e8fb7890e1566791a.json"}}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS", "orcid": "0000-0002-0850-230X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f363e8d74594ffeb0d68aa6d774b242.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}], "type": "posted-content", "published": "2020-07-02", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2020.07.02.185108", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T09:57:48.394Z", "modified": "2026-08-20T09:57:48.992Z"}, {"entity": "publication", "iuid": "1243c8010a2442e889e83249f03ea517", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1243c8010a2442e889e83249f03ea517.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1243c8010a2442e889e83249f03ea517"}}, "title": "SweHLA: the high confidence HLA typing bio-resource drawn from 1 000 Swedish genomes", "authors": [{"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Meadows", 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