Anna Hammarsjö
A5057071965- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
- Congenital heart defects research
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Urological Disorders and Treatments
- Mitochondrial Function and Pathology
- interferon and immune responses
- Immunodeficiency and Autoimmune Disorders
- Bone and Dental Protein Studies
- Neurogenetic and Muscular Disorders Research
- Ubiquitin and proteasome pathways
- Genetic Syndromes and Imprinting
- MicroRNA in disease regulation
- NF-κB Signaling Pathways
- Congenital Anomalies and Fetal Surgery
- Digestive system and related health
- Cancer Genomics and Diagnostics
- Protein Tyrosine Phosphatases
- Chronic Myeloid Leukemia Treatments
- Epilepsy research and treatment
Karolinska Institutet
2015-2025
Karolinska University Hospital
2015-2025
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a long-term collaborative initiative between Karolinska University Hospital Science for Life Laboratory to establish advanced, genomics-based diagnostics in Stockholm healthcare setting. Methods Our analysis covers detection interpretation of...
Abstract Background Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use whole-genome sequencing (WGS) rather than microarray analysis (CMA) as a first-line diagnostic test. Methods We analyzed three cohorts with short-read WGS: (i) retrospective cohort validated copy number (CNVs) (cohort 1, n = 68), (ii) individuals referred for monogenic multi-gene panels 2, 156), and...
Abstract Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield patients with rare diseases. However, cost and efforts required for reanalysis prevent its routine implementation in research clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed One goals is implement innovative approaches reanalyse exomes genomes from thousands well-studied cases. raw genomic submitted through RD-Connect Genome-Phenome Analysis...
The gene IL6ST encodes GP130, the common signal transducer of IL-6 cytokine family consisting 10 cytokines. Previous studies have identified cytokine-selective defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented lethal Stüve-Wiedemann–like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities,...
Abstract Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test, especially relevant for individuals with neurodevelopmental disorders, syndromes and congenital malformations. However, cost consequences of using whole as first-line test these are not well understood. The study objective was compare healthcare costs diagnostic yield when WGS is performed instead chromosomal microarray analysis (CMA). Two cohorts were analyzed retrospectively register data, cohort...
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, reported to cause skeletal ciliopathies. Here, we summarize genetic phenotypic 34 affected individuals from 29 families Molecular diagnostic testing was performed using massively parallel sequencing (MPS) combination copy number variant...
Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated several different approaches in clinical genetic diagnostics.We compared the results from 3 diagnostic pipelines patients ID/NDD: genome sequencing (GS) first (N = 100), GS as a secondary test 129), or chromosomal microarray (CMA) without FMR1 analysis 421).The yield was 35% (GS-first), 26% (GS test), and 11% (CMA/FMR1). Notably, age of diagnosis delayed by 1 year when performed...
ABSTRACT Bone morphogenetic protein 2 (BMP‐2), encoded by the BMP2 gene located in chromosomal region 20p12, is a signalling involved formation of bone and cartilage other developmental processes such as cardiac neural development. Haploinsufficiency has been associated with distinct facial features, short stature, skeletal malformations abnormalities. The degree delay still controversial. We summarise clinical genetic findings from seven individuals haploinsufficiency. study participants...
The skeletal ciliopathies are a heterogeneous group of disorders with significant clinical and genetic variability the main features thoracic hypoplasia short tubular bones. To date, 25 genes have been identified in association ciliopathies. Mutations KIAA0753 gene recently associated Joubert syndrome (JBTS) orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants four patients short-rib type dysplasia. manifestations our variable ranging from fetal lethal to viable moderate...
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and 2B3 as well contractures, pterygia spondylocarpotarsal fusion syndromes types 1A 1B. These disorders are ultra-rare their natural course phenotypic variability not described. In this study, we summarize the clinical features genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic MYH3. Twelve novel (NM_002470.4) were identified: three them de novo...
Progesterone receptor modulators, such as mifepristone are useful and well tolerated in reducing leiomyoma volume although with large individual variation. The objective of this study was to investigate the molecular basis for observed reduction, response treatment explore a possible marker selective usage patients. Premenopausal women (N = 14) were treated 50 mg, every other day 12 weeks prior surgery. Women arbitrarily sub-grouped good 4), poor 4) responders or intermediate respondents 3)....
ABSTRACT Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with broad range phenotypic variations. It also one the differential diagnoses in bent bone dysplasias along campomelic dysplasia and thanatophoric can usually be distinguished by decreased mineralization fractures. Bent include syndromes such as kyphomelic (MIM:211350) mesomelic Kozlowski-Reardon (MIM249710), both which have been under debate regarding whether or not they are real entity simply...
Introduction Neuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access targeted treatment for the affected individuals. Methods In this study, 861 patients with NMDs were analyzed genome sequencing comprehensive variant calling including single nucleotide variants, small insertions/deletions (SNVs/INDELs), structural variants (SVs) in panel of 895 NMD genes, as well short tandem repeat expansions (STRs) at 28 loci....
Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, deformities, and short stature. Most commonly, it caused autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2. Type main protein of extracellular matrix skeleton changes its structure quantity may lead to OI. 85%-90% OI cases occur due sequence while structural abnormalities genes less common. In most cases, haploinsufficiency associated with milder phenotype. Large...
Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals skeletal dysplasia negative exome sequencing results. First, detected homozygous tandem duplication exon 9 10 IFT81 boy Jeune syndrome, or short-rib thoracic (SRTD) (MIM# 208500). Western blot analysis did not detect any...
Mitochondrial diseases are a heterogeneous group of genetic disorders caused by pathogenic variants in genes encoding gene products that regulate mitochondrial function. These located either the or nuclear genome. The TOMM7 encodes regulatory subunit translocase outer membrane (TOM) complex plays an essential role translocation nuclear-encoded proteins into mitochondria. We report individual with homozygous variant (c.73T>C, p.Trp25Arg) presented syndromic short stature, skeletal...