{"entity": "researcher", "timestamp": "2026-08-20T20:37:30.605Z", "family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "affiliations": ["Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden.", "Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94"}}, "publications": [{"entity": "publication", "iuid": "717e438da9e2475d86d7b819924448a8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/717e438da9e2475d86d7b819924448a8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/717e438da9e2475d86d7b819924448a8"}}, "title": "Flexible and rapid validation of structural variation using adaptive sampling", "authors": [{"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbdc6712238248f28392139dacb6df99.json"}}, {"family": "Paivandy", "given": "Aida", "initials": "A"}, {"family": "Lenner", "given": "Felix", "initials": "F"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Jonson", "given": "Tord", "initials": "T"}, {"family": "Ehrencrona", "given": "Hans", "initials": "H", "orcid": "0000-0002-5589-3622", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2617c35da5b144eb9beed549af2abf23.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Scherer", "given": "Stephen", "initials": "S", "orcid": "0000-0002-8326-1999", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9d8d382091f14adb9a39c43781bf1b77.json"}}], "type": "posted-content", "published": "2025-09-11", "journal": {"issn-l": null}, "abstract": null, "doi": "10.21203/rs.3.rs-7307341/v1", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T13:00:00.509Z", "modified": "2026-08-20T13:00:00.632Z"}, {"entity": "publication", "iuid": "a20fe2cee9dd47dbaa39c04f36e70e3c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a20fe2cee9dd47dbaa39c04f36e70e3c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a20fe2cee9dd47dbaa39c04f36e70e3c"}}, "title": "Toward clinical long-read genome sequencing for rare diseases.", "authors": [{"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Ek", "given": "Marlene", "initials": "M", "orcid": "0000-0001-6611-309X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f0fa1d88ff54c23834851878f9e2b5d.json"}}, {"family": "Nordenskj\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "journal article", "published": "2025-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "57", "issue": "6", "pages": "1334-1343", "issn-l": "1061-4036"}, "abstract": "Genetic diagnostics is driven by technological advances, forming a tight interface between research, clinic and industry, which enables rapid implementation of new technologies. Short-read genome and exome sequencing, the current state of the art in clinical genetics, can detect a broad spectrum of genetic variants across the genome. However, despite these advancements, more than half of individuals with rare diseases remain undiagnosed after genomic investigations. Long-read whole-genome sequencing (LR-WGS) is a promising technology that identifies previously difficult-to-detect variants while also enabling phasing and methylation analysis and has the potential of generating complete personal assemblies. To pave the way for clinical use of LR-WGS, the clinical genomic community must establish standardized protocols and quality parameters while also developing innovative tools for data analysis and interpretation. In this Perspective, we explore the key challenges and benefits in integrating LR-WGS into routine clinical diagnostics.", "doi": "10.1038/s41588-025-02160-y", "pmid": "40335760", "labels": [], "xrefs": [{"db": "pii", "key": "10.1038/s41588-025-02160-y"}], "notes": [], "created": "2026-08-20T09:00:13.333Z", "modified": "2026-08-20T09:00:13.458Z"}, {"entity": "publication", "iuid": "2404c1f5881c4147a5ef10d572d070f6", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2404c1f5881c4147a5ef10d572d070f6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2404c1f5881c4147a5ef10d572d070f6"}}, "title": "Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.", "authors": [{"family": "Verrecchia", "given": "Luca", "initials": "L"}, {"family": "Alm", "given": "Victor", "initials": "V", "orcid": "0009-0004-0429-5237", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b2f3a648f814e2e84f74c8df9de1837.json"}}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0003-4503-4717", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/894e104d959d4ed49f46221533b1a4d9.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.json"}}, {"family": "Paivandy", "given": "Aida", "initials": "A"}, {"family": "Feuk", "given": "Lars", "initials": "L"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542.json"}}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "11", "issue": "1", "pages": "e200238", "issn-l": null}, "abstract": "Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.\n\nDetailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.\n\nClinical follow-up after acute vestibular syndrome revealed bilateral vestibular areflexia and a gait abnormality with the Scale for the Assessment and Rating of Ataxia score of 5. Brain MRI was normal while 2 electroneurography tests did not show neuropathy. However, severe cough spells raised the suspicion of a RFC1-spectrum disorder. WGS screening detected a recessive intronic pentanucleotide expansion in RFC1, which was verified and sized using long-read adaptive sequencing.\n\nThis is an unusual presentation; oscillopsia after an acute vestibular syndrome and cough spells should alert clinicians about a RFC1-spectrum disorder, even in the absence of neuropathy and neuroradiologic abnormalities.", "doi": "10.1212/NXG.0000000000200238", "pmid": "39839074", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11748027"}, {"db": "pii", "key": "NXG-2024-100195D"}], "notes": [], "created": "2026-08-20T12:38:08.531Z", "modified": "2026-08-20T12:38:08.725Z"}, {"entity": "publication", "iuid": "d3d52f092bfb4082b0dfacda385e43b2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2"}}, "title": "Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements", "authors": [{"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8b8ce05cf7f49aeb3199b5938b9f160.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.json"}}, {"family": "ten Berk de Boer", "given": "Esmee", "initials": "E"}, {"family": "Ek", "given": "Marlene", "initials": "M", "orcid": "0000-0001-6611-309X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f0fa1d88ff54c23834851878f9e2b5d.json"}}, {"family": "Wincent", "given": "Josephine", "initials": "J"}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Jonsson", "given": "Tord", "initials": "T"}, {"family": "Ivarsson", "given": "Sofie E", "initials": "SE"}, {"family": "Thunstrom", "given": "Sofia", "initials": "S"}, {"family": "Topa", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-7518-1294", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b886b9e86f949b4864493543081dc0d.json"}}, {"family": "Stenberg", "given": "Simon", "initials": "S", "orcid": "0000-0003-0300-1730", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa8dd5aac01d40ce8cb718f1f3a0227b.json"}}, {"family": "Rohlin", "given": "Anna", "initials": "A"}, {"family": "Sandestig", "given": "Anna", "initials": "A"}, {"family": "Nordling", "given": "Margareta", "initials": "M"}, {"family": "Palmeb\u00e4ck", "given": "Pia", "initials": "P"}, {"family": "Burstedt", "given": "Magnus", "initials": "M"}, {"family": "Nordin", "given": "Frida", "initials": "F"}, {"family": "Stattin", "given": "Eva Lena", "initials": "EL"}, {"family": "Sobol", "given": "Maria", "initials": "M"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Bondeson", "given": "Marie Louise", "initials": "ML"}, {"family": "H\u00f6ijer", "given": "Ida", "initials": "I", "orcid": "0000-0002-3915-3384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa1a8d7500f147cb852a2e9c3e8617c5.json"}}, {"family": "Bilgrav Saether", "given": "Kristine", "initials": "K"}, {"family": "Lovmar", "given": "Lovisa", "initials": "L"}, {"family": "Ehrencrona", "given": "Hans", "initials": "H"}, {"family": "Melin", "given": "Malin", "initials": "M"}, {"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbdc6712238248f28392139dacb6df99.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "posted-content", "published": "2023-12-17", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.12.15.23299892", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:51:02.037Z", "modified": "2026-08-20T10:51:02.309Z"}, {"entity": "publication", "iuid": "1b54d3f7f3864320b23c5afc75797ab5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1b54d3f7f3864320b23c5afc75797ab5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1b54d3f7f3864320b23c5afc75797ab5"}}, "title": "Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.", "authors": [{"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Rezayee", "given": "Fatemah", "initials": "F"}, {"family": "Pettersson", "given": "Maria", "initials": "M", "orcid": "0000-0003-3120-1625", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/12ccdc228a31454b8d43136e9708350b.json"}}, {"family": "Lagerstedt", "given": "Kristina", "initials": "K"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Falk", "given": "Anna", "initials": "A"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "43", "issue": "11", "pages": "1567-1575", "issn-l": "1059-7794"}, "abstract": "Prader-Willi syndrome (PWS; MIM# 176270) is a neurodevelopmental disorder caused by the loss of expression of paternally imprinted genes within the PWS region located on 15q11.2. It is usually caused by either maternal uniparental disomy of chromosome 15 (UPD15) or 15q11.2 recurrent deletion(s). Here, we report a healthy carrier of a balanced X;15 translocation and her two daughters, both with the karyotype 45,X,der(X)t(X;15)(p22;q11.2),-15. Both daughters display symptoms consistent with haploinsufficiency of the SHOX gene and PWS. We explored the architecture of the derivative chromosomes and investigated effects on gene expression in patient-derived neural cells. First, a multiplex ligation-dependent probe amplification methylation assay was used to determine the methylation status of the PWS-region revealing maternal UPD15 in daughter 2, explaining her clinical symptoms. Next, short read whole genome sequencing and 10X genomics linked read sequencing was used to pinpoint the exact breakpoints of the translocation. Finally, we performed transcriptome sequencing on neuroepithelial stem cells from the mother and from daughter 1 and observed biallelic expression of genes in the PWS region (including SNRPN) in daughter 1. In summary, our multi-omics analysis highlights two different PWS mechanisms in one family and provide an example of how structural variation can affect imprinting through long-range interactions.", "doi": "10.1002/humu.24440", "pmid": "35842787", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9796698"}], "notes": [], "created": "2026-08-20T06:33:28.644Z", "modified": "2026-08-20T06:33:28.795Z"}, {"entity": "publication", "iuid": "981e9b2d8954494ead80fcb66157d4e9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/981e9b2d8954494ead80fcb66157d4e9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/981e9b2d8954494ead80fcb66157d4e9"}}, "title": "Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders", "authors": [{"family": "Lowther", "given": "Chelsea", "initials": "C"}, {"family": "Mehrjouy", "given": "Mana M", "initials": "MM"}, {"family": "Collins", "given": "Ryan L", "initials": "RL"}, {"family": "Bak", "given": "Mads C", "initials": "MC"}, {"family": "Dudchenko", "given": "Olga", "initials": "O"}, {"family": "Brand", "given": "Harrison", "initials": "H"}, {"family": "Dong", "given": "Zirui", "initials": "Z"}, {"family": "Rasmussen", "given": "Malene B", "initials": "MB"}, {"family": "Gu", "given": "Huiya", "initials": "H"}, {"family": "Weisz", "given": "David", "initials": "D"}, {"family": "Nazaryan-Petersen", "given": "Lusine", "initials": "L"}, {"family": "Fjorder", "given": "Amanda S", "initials": "AS"}, {"family": "Mang", "given": "Yuan", "initials": "Y"}, {"family": "Lind-Thomsen", "given": "Allan", "initials": "A"}, {"family": "Mendez", "given": "Juan M M", "initials": "JMM"}, {"family": "Calle", "given": "Xabier", "initials": "X"}, {"family": "Chopra", "given": "Anuja", "initials": "A"}, {"family": "Hansen", "given": "Claus", "initials": "C"}, {"family": "Bugge", "given": "Merete", "initials": "M"}, {"family": "Broekema", "given": "Roeland V", "initials": "RV"}, {"family": "Varilo", "given": "Teppo", "initials": "T"}, {"family": "Luukkonen", "given": "Tiia", "initials": "T"}, {"family": "Engelen", "given": "John", "initials": "J"}, {"family": "Vianna-Morgante", "given": "Angela M", "initials": "AM"}, {"family": "Fonseca", "given": "Ana Carolina S", "initials": "ACS"}, {"family": "Mazzeu", "given": "Juliana F", "initials": "JF"}, {"family": "Dornelles-Wawruk", "given": "Halinna", "initials": "H"}, {"family": "Abe", "given": "Kikue T", "initials": "KT"}, {"family": "Vermeesch", "given": "Joris R", "initials": "JR"}, {"family": "Van Den Bogaert", "given": "Kris", "initials": "K"}, {"family": "Sismani", "given": "Carolina", "initials": "C"}, {"family": "Aristidou", "given": "Constantia", "initials": "C"}, {"family": "Evangelidou", "given": "Paola", "initials": "P"}, {"family": "Schinzel", "given": "Albert A", "initials": "AA"}, {"family": "Sanlaville", "given": "Damien", "initials": "D"}, {"family": "Schluth-Bolard", "given": "Caroline", "initials": "C"}, {"family": "Kalscheuer", "given": "Vera M", "initials": "VM"}, {"family": "Wenzel", "given": "Maren", "initials": "M"}, {"family": "Kim", "given": "Hyung Goo", "initials": "HG"}, {"family": "\u00d5unap", "given": "Katrin", "initials": "K"}, {"family": "Roht", "given": "Laura", "initials": "L"}, {"family": "Midyan", "given": "Susanna", "initials": "S"}, {"family": "Bonaglia", "given": "Maria C", "initials": "MC"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Pettersson", "given": "Maria", "initials": "M"}, {"family": "Bastos", "given": "Elenice F", "initials": "EF"}, {"family": "Rajcan-Separovic", "given": "Evica", "initials": "E"}, {"family": "Silan", "given": "Fatma", "initials": "F"}, {"family": "Sheth", "given": "Frenny J", "initials": "FJ"}, {"family": "Novelli", "given": "Antonio", "initials": "A"}, {"family": "Frengen", "given": "Eirik", "initials": "E"}, {"family": "Fannemel", "given": "Madeleine", "initials": "M"}, {"family": "Str\u00f8mme", "given": "Petter", "initials": "P"}, {"family": "Voka\u010d", "given": "Nadja Kokalj", "initials": "NK"}, {"family": "Daumer-Haas", "given": "Cornelia", "initials": "C"}, {"family": "Moretti-Ferreira", "given": "Danilo", "initials": "D"}, {"family": "de Souza", "given": "Deise Helena", "initials": "DH"}, {"family": "Ramos-Arroyo", "given": "Maria A", "initials": "MA"}, {"family": "Igoa", "given": "Maria M", "initials": "MM"}, {"family": "Angelova", "given": "Lyudmila", "initials": "L"}, {"family": "Kroisel", "given": "Peter M", "initials": "PM"}, {"family": "Rey", "given": "Graciela del", 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