Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A et al.
Molecular Genetics and Genomics : Mgg, 2022
Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
Mone F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
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.
Lindstrand A et al.
Genome Medicine, 2019
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