Anna Lindstrand

Toward clinical long-read genome sequencing for rare diseases

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

Precision medicine in rare diseases: What is next?

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

Complex genomic rearrangements: an underestimated cause of rare diseases

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

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

DLG4-related synaptopathy: a new rare brain disorder

Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

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

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

De novo mutations in <i>FLNC</i> leading to early-onset restrictive cardiomyopathy and congenital myopathy

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th–12th 2018, Stockholm, Sweden

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains