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Anna Lindstrand

Explore the profile of Anna Lindstrand including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 104
Citations 2158
Followers 0
Related Specialties
Genetics
General Medicine
Science
Top 10 Co-Authors
Ann Nordgren
Jesper Eisfeldt
Maria Pettersson
Daniel Nilsson
Malin Kvarnung
Britt-Marie Anderlid
Claudia M B Carvalho
Giedre Grigelioniene
Magnus Nordenskjold
Anna Hammarsjo
Published In
Hum Mutat
Am J Med Genet A
Front Genet
Am J Hum Genet
PLoS One
Affiliations
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Recent Articles
1.
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency
Stavren-Eriksson E, Hammarsjo A, Lindstrand A, Nordgren A, Grigelioniene G, Pigg M
Clin Genet . 2025 Feb; PMID: 39970956
Bone morphogenetic protein 2 (BMP-2), encoded by the BMP2 gene located in chromosomal region 20p12, is a signalling protein involved in formation of bone and cartilage and other developmental processes...
2.
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Ehn E, Eisfeldt J, Laffita-Mesa J, Thonberg H, Schoumans J, Portaankorva A, et al.
Sci Rep . 2025 Jan; 15(1):2912. PMID: 39849058
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare....
3.
Acute Vestibular Syndrome Unmasking an -Spectrum Disorder
Verrecchia L, Alm V, Thonberg H, Lenner F, Paivandy A, Feuk L, et al.
Neurol Genet . 2025 Jan; 11(1):e200238. PMID: 39839074
Objectives: Since the discovery of biallelic pentanucleotide expansions in as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article,...
4.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Pehlivan D, Bengtsson J, Bajikar S, Grochowski C, Lun M, Gandhi M, et al.
Genome Med . 2024 Dec; 16(1):146. PMID: 39696717
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic...
5.
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Schuy J, Saether K, Lisfeld J, Ek M, Grochowski C, Lun M, et al.
Genet Med Open . 2024 Dec; 2:101863. PMID: 39669604
Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome)....
6.
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease
De Geer K, Lofgren S, Lindstrand A, Kvarnung M, Bjorck E
Acta Ophthalmol . 2024 Dec; PMID: 39643591
Purpose: This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects...
7.
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Ek M, Kvarnung M, Pettersson M, Johansson Soller M, Anderlid B, Thonberg H, et al.
Sci Rep . 2024 Dec; 14(1):30343. PMID: 39639090
Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The...
8.
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Batkovskyte D, Swolin-Eide D, Hammarsjo A, Saether K, Thunstrom S, Lundin J, et al.
Am J Med Genet A . 2024 Nov; 197(3):e63935. PMID: 39513464
Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I...
9.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
Saether K, Eisfeldt J, Bengtsson J, Lun M, Grochowski C, Mahmoud M, et al.
Genome Res . 2024 Nov; 34(11):1785-1797. PMID: 39486878
Chromosomal inversions (INVs) are particularly challenging to detect due to their copy-number neutral state and association with repetitive regions. Inversions represent about 1/20 of all balanced structural chromosome aberrations and...
10.
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, et al.
Genome Res . 2024 Oct; 34(11):1774-1784. PMID: 39472022
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding...