Anna Lindstrand

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Karolinska Institutet

Sweden

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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

Anna Lindstrand

Research Interests

Explore related searches

Contact this professor

About

Recent Grants

Articles (19)

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

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.

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 (12)

Raquel Vaz

Tobias Laurell

Erik Iwarsson

Ann Nordgren

Adam Ameur

Hafdis Helgadottir

Fulya Taylan

Kristina Lagerstedt Robinson

Monika Grudzinska Pechhacker

Martin Paucar

Hans Ehrencrona

Daniel Nilsson

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