Categoría: Open access
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Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
WHAT IS ALREADY KNOWN ON THIS TOPICFacioscapulohumeral muscular dystrophy (FSHD) diagnosis requires accurate definition of D4Z4 repeat size, permissive haplotype status and epigenetic context, particularly in borderline or non-contracted cases where …
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Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers
Background Hereditary cancer syndromes (HCSs) account for approximately 5–10% of all cancers and are frequently associated with pathogenic variants (PVs) in genes such as BRCA1 and BRCA2. Nevertheless, a substantial proportion of individuals wit…
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Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
WHAT IS ALREADY KNOWN ON THIS TOPICFacioscapulohumeral muscular dystrophy (FSHD) diagnosis requires accurate definition of D4Z4 repeat size, permissive haplotype status and epigenetic context, particularly in borderline or non-contracted cases where …
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Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants
Tsoulaki O, Evans DG, Sinha K, et al. UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants. Journal of Medical Genetics 2025;62:559-565. The name of author Farrah S Bakr has been corrected. Both t…
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Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants
Tsoulaki O, Evans DG, Sinha K, et al. UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants. Journal of Medical Genetics 2025;62:559-565. The name of author Farrah S Bakr has been corrected. Both t…
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Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability
Background Neurodevelopmental disorders are one of the most prevalent reasons for genetic testing in childhood. Despite the identification of over 1950 associated genes, many proposed candidate genes lack convincing gene-disease validity. The gene PRE…
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PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives
Precise breast cancer risk assessment (BCR) is essential for personalised prevention in women with a family history of hereditary breast and ovarian cancer (HBOC). The CanRisk model integrates monogenic variants with reproductive, lifestyle and famili…
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PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives
Precise breast cancer risk assessment (BCR) is essential for personalised prevention in women with a family history of hereditary breast and ovarian cancer (HBOC). The CanRisk model integrates monogenic variants with reproductive, lifestyle and famili…
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Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
BackgroundSteroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes of SRNS have been identified, a si…
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Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
Background Steroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes of SRNS have been identified, a …