Anna Lindstrand

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

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial Proteomics

The paper uses spatial proteomics to analyze primary cilia proteomes across cell lines, revealing cell-type specificity and single-cilia heterogeneity, and identifies novel cilia proteins and potential genetic variants.

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

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

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

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

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.

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

This study uses linked-read whole-genome sequencing to detect structural variants and copy number variations in multiple myeloma, identifying both common and private variants that affect gene regulation and molecular classification.

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

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.

Loss of zebrafish ctnnd2b results in disorganised forebrain neuron clusters

This study shows that heterozygous loss of ctnnd2b in zebrafish leads to disorganised and imbalanced neuronal subtypes in the forebrain.