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Anna Lindstrand

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Professor

Karolinska Institutet

Sweden

Research Interests

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Professors in Sweden Professors in Cell Biology Cell Biology professors in Sweden

About

Professor Anna Lindstrand is a faculty member at Karolinska Institutet, Sweden. Her research focuses on genomics, particularly in relation to rare diseases, structural variants and their implications in conditions such as Osteogenesis Imperfecta and Alzheimer's disease. She has recently published articles on long-read genome sequencing and its applications in clinical settings, contributing significantly to the understanding of complex genetic rearrangements.

Recent Grants

Grant: Close

Studies of structural chromosome rearrangements to identify genes involved in congenital brain disorders

Open Date: 2018-01-01

Close Date: 2021-12-01

Grant: Close

Identification of structural chromosomal rearrangements with whole genome sequencing in clinical diagnostics

Open Date: 2017-01-01

Close Date: 2019-12-01

Grant: Close

Identification of structural chromosomal rearrangements with whole genome sequencing in clinical diagnostics

Open Date: 2017-01-01

Close Date: 2019-12-01

Grant: Close

Identification of new disease genes by sequencing balanced chromosomal aberrations

Open Date: 2016-01-01

Close Date: 2019-12-01

Grant: Close

Next generation molecular genetic studies of genomic structural rearrangements

Open Date: 2016-01-01

Close Date: 2016-12-01

Articles (39)

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Collaborators (37)

Raquel Vaz

Karolinska Institutet

SWEDEN

Anna Lindstrand

Research Interests

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About

Recent Grants

Articles (39)

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.

Genomic Medicine Sweden: Advancing precision medicine at the national level

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation

Flexible and rapid validation of structural variation using adaptive sampling

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing

First Reported Use of Recombinant Parathyroid Hormone in Kenny–Caffey Syndrome Type 2: A Case Report and Literature Review

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

Moving beyond monogenic disorders in clinical healthcare.

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Toward clinical long-read genome sequencing for rare diseases

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

Acute Vestibular Syndrome Unmasking an RFC1 -Spectrum Disorder

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

Implementing electronic informed consent in rare disease genomics.

Intrinsic heterogeneity of primary cilia revealed through spatial proteomics.

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63

Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Complex genomic rearrangements: an underestimated cause of rare diseases

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

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

Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Collaborators (37)

Raquel Vaz

Tobias Laurell

Jan N. Hansen

Erik Iwarsson

Caroline Graff

Laura Orellana

Mia Wadelius

Ann Nordgren

Nicola Whiffin

Adam Ameur

Aida Paivandy

Emma Käller Lundberg

Konstantin Kahnert

Peter Bergman

Magnus Nordenskjöld

Hafdis Helgadottir

Fulya Taylan

Giorgio Tettamanti

Charlotta Ingovldstad Malmgren

Kristina Lagerstedt Robinson

Panagiotis Baliakas

Monika Grudzinska Pechhacker

Malin Sund

Rolf Zetterström

Giedre Grigelioniene

Martin Paucar

Siddharth Banka

Åsa Johansson

David Gisselsson

Hans Ehrencrona

Sofia Frisk

Alexander Blakes

Olivia Jayne Henry