Lindstrand A

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Family name Lindstrand
Given name Anna
Initials A
ORCID

ORCID 0000-0003-0806-5602
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, 171 76, Stockholm, Sweden. anna.lindstrand@ki.se.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. anna.lindstrand@ki.se.

20 publications

PubMed DOI Crossref
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A
Genome Res. - (-) - [2024-11-01; online 2024-11-01]
NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A
Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]
Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.
Eisfeldt J, Higginbotham EJ, Lenner F, ..., Scherer SW, Feuk L
Genome Res. - (-) - [2024-10-29; online 2024-10-29]
NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A
Genome Res. - (-) - [2024-10-29; online 2024-10-29]
NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
DOI Crossref
A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Schuy J, Sæther KB, Lisfeld J, ..., Eisfeldt J, Lindstrand A
Genetics in Medicine Open - (-) 101863 [2024-06-00; online 2024-06-00]
NGI Long read [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G
Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]
Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, ..., Nordgren A, Lindstrand A
Ophthalmic Genet - (-) 1-8 [2023-05-29; online 2023-05-29]
Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Implementing precision medicine in a regionally organized healthcare system in Sweden.
Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R
Nat. Med. 28 (10) 1980-1982 [2022-10-00; online 2022-09-20]
Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Eisfeldt J, Schuy J, Stattin EL, ..., Feuk L, Lindstrand A
Int J Mol Sci 23 (16) - [2022-08-20; online 2022-08-20]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H
Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]
Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G
J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
Eisfeldt J, Pettersson M, Petri A, ..., Feuk L, Lindstrand A
Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A, Wedell A
Genome Med 13 (1) 40 [2021-03-17; online 2021-03-17]
Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, ..., Xia K, Eichler EE
Nat Commun 11 (1) 4932 [2020-10-01; online 2020-10-01]
Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S, Pettersson M, Eisfeldt J, ..., Anderlid BM, Lindstrand A
PLoS ONE 15 (2) e0228622 [2020-02-10; online 2020-02-10]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D
Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A
PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A
PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
SciLifeLab Data Centre
Publications 9.5.1