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
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract.
Harris M et al.
Frontiers in Pediatrics, 2022
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Knarston IM et al.
Human Mutation, 2019
30350900 (PubMed )
Supplement: HUMU-40-207-s001.pdf
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Kohl S et al.
Journal of the American Society of Nephrology : Jasn, 2014
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