Categoría: Articulos
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A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
European Journal of Human Genetics, Published online: 27 December 2025; doi:10.1038/s41431-025-01990-yA systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
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Exome sequencing points to pathogenic <i>ATM</i> variants in gastric cancer
European Journal of Human Genetics, Published online: 26 December 2025; doi:10.1038/s41431-025-01994-8Exome sequencing points to pathogenic ATM variants in gastric cancer
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Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia
In this multi-laboratory validation study of 145 ovarian cancer samples, the SOPHiA DDM HRD Solution was compared with the regulatory-approved Myriad myChoice HRD assay to assess clinical comparability for Class 3 in-house in vitro diagnostic medical d…
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
European Journal of Human Genetics, Published online: 24 December 2025; doi:10.1038/s41431-025-01991-xA homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
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Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients
BackgroundBiallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2.MethodsWe describe the clinical and neuroimaging features o…
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Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
European Journal of Human Genetics, Published online: 22 December 2025; doi:10.1038/s41431-025-01992-wHereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
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Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation
Deleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive clinical de…
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Robert James McKinlay (“Mac”) Gardner
European Journal of Human Genetics, Published online: 20 December 2025; doi:10.1038/s41431-025-01989-5Robert James McKinlay (“Mac”) Gardner