Categoría: Articulos
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Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1…
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Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension
BackgroundMECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies. Heterozygous de novo variants are the primary cause. We …
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Advancing genomic medicine: Guidelines, risk scores, and disease discovery
European Journal of Human Genetics, Published online: 30 January 2026; doi:10.1038/s41431-026-02021-0Advancing genomic medicine: Guidelines, risk scores, and disease discovery
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Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma
European Journal of Human Genetics, Published online: 29 January 2026; doi:10.1038/s41431-026-02020-1Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarci…
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MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect
The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to alter MITF’s genome occupancy, potentially influe…
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Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium
European Journal of Human Genetics, Published online: 29 January 2026; doi:10.1038/s41431-026-02014-zNon-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM co…
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Copy-Neutral Loss of Heterzygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays
Myelofibrosis (MF) is a hematologic malignancy with a highly heterogeneous clinical course. Copy-neutral loss of heterozygosity (CN-LOH) may contribute to disease progression by promoting mutation homozygosity. Although single-nucleotide polymorphism (…
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De novo heterozygous variants of the <i>RSF1</i> gene are responsible for a syndromic neurodevelopmental disorder
European Journal of Human Genetics, Published online: 28 January 2026; doi:10.1038/s41431-026-02017-wDe novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
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AncientProxy: A catalog of ancient proxies for modern genetic variants
Ancient DNA enables direct observation of alleles through time. However, the utility of available ancient human genotypes is limited by a focus on ∼1.23 million variants. Here, we address this limitation by generating a catalog of ancient genotyped pro…