Lindstrand A

Family name	Lindstrand
Given name	Anna
Initials	A
ORCID	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.

31 publications

Flexible and rapid validation of structural variation using adaptive sampling

Feuk L, Paivandy A, Lenner F, ..., Lindstrand A, Scherer S

- - (-) - [2025-09-11; online 2025-09-11]

PubMed DOI Crossref

Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

Kämpe A, Gudmundsson S, Walsh CP, ..., Lindstrand A, Lappalainen T

Nat. Med. 31 (6) 1730-1732 [2025-06-00; online 2025-04-05]

PubMed DOI Crossref

Toward clinical long-read genome sequencing for rare diseases.

Eisfeldt J, Ek M, Nordenskjöld M, Lindstrand A

Nat. Genet. 57 (6) 1334-1343 [2025-06-00; online 2025-05-07]

PubMed DOI Crossref

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.

Verrecchia L, Alm V, Thonberg H, ..., Nilsson D, Paucar M

Neurol Genet 11 (1) e200238 [2025-02-00; online 2025-01-16]

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 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]

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 34 (11) 1763-1773 [2024-11-20; online 2024-11-20]

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 34 (11) 1774-1784 [2024-11-20; online 2024-11-20]

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]

PubMed DOI Crossref

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.

Bilgrav Saether K, Eisfeldt J, Bengtsson J, ..., Carvalho CMB, Lindstrand A

medRxiv - (-) - [2024-04-24; online 2024-04-24]

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A

- - (-) - [2023-12-17; online 2023-12-17]

PubMed DOI Crossref

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Eisfeldt J, Rezayee F, Pettersson M, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 43 (11) 1567-1575 [2022-11-00; online 2022-07-23]

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]

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]

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]

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Lowther C, Mehrjouy MM, Collins RL, ..., Talkowski ME, Tommerup N

- - (-) - [2022-02-16; online 2022-02-16]

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

Peña-Pérez L, Frengen N, Hauenstein J, ..., Lindstrand A, Månsson R

- - (-) - [2021-12-09; online 2021-12-09]

PubMed DOI Crossref

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

Ygberg S, Akkuratov EE, Howard RJ, ..., Brismar H, Aperia A

J Biol Chem 297 (6) 101355 [2021-12-00; online 2021-10-28]

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]

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]

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]

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]

Defective membrane insertion of mutant Na,K‐ATPase, a cause of fatal epilepsy

Howard R, Ygberg S, Andersson M, ..., Lindstrand A, Aperia A

The FASEB Journal 34 (S1) 1-1 [2020-04-00; online 2020-04-18]

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

Bieder A, Einarsdottir E, Matsson H, ..., Kere J, Tapia-Páez I

- - (-) - [2020-03-31; online 2020-03-31]

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]

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]

PubMed DOI Crossref

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Frisk S, Taylan F, Blaszczyk I, ..., Laurell T, Nordgren A

Clin. Genet. 96 (2) 118-125 [2019-08-00; online 2019-05-09]

PubMed DOI Crossref

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Lundin J, Markljung E, Baranowska Körberg I, ..., Lindstrand A, Nordenskjöld A

Mol Genet Genomic Med 7 (6) e666 [2019-06-00; online 2019-05-01]

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]

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]

PubMed DOI Crossref

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 39 (10) 1456-1467 [2018-10-00; online 2018-08-22]

PubMed DOI Crossref

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A

F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]

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Publications 9.5.1