Categoría: Articulos
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5q31 duplications encompassing <i>PURA</i> are associated with a neurodevelopmental disorder
European Journal of Human Genetics, Published online: 22 September 2026; doi:10.1038/s41431-026-02230-75q31 duplications encompassing PURA are associated with a neurodevelopmental disorder
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digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
European Journal of Human Genetics, Published online: 22 September 2026; doi:10.1038/s41431-026-02235-2digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
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Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 22 September 2026; doi:10.1038/s41431-026-02228-1Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia
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Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network
Li et al. identify robust cis-by-trans epistatic interactions in the human plasma proteome. They uncover an ABO-centered epistatic regulatory network where blood type modifies cis-genetic effects on proteins, revealing a buffering mechanism consistent …
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Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists
Clinical genetic data are increasingly central to diagnosis and treatment, yet Canadian laboratories lack practical guidance for sharing them responsibly. This CCMG position statement translates ethical, legal, and clinical principles into actionable r…
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digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
European Journal of Human Genetics, Published online: 22 September 2026; doi:10.1038/s41431-026-02235-2digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
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Novel mouse model reveals the mechanisms of a rare genetic encephalopathy
A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse model that faithfully reproduc…
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Novel mouse model reveals the mechanisms of a rare genetic encephalopathy
A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse model that faithfully reproduc…
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New gene discovery could help identify better stem cell donors
Research from stem cell charity Anthony Nolan, published in Transplantation and Cellular Therapy, has revealed that 1 in 50 people studied has an «especially useful» gene variant that could make them a particularly desirable stem cell donor.
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New gene discovery could help identify better stem cell donors
Research from stem cell charity Anthony Nolan, published in Transplantation and Cellular Therapy, has revealed that 1 in 50 people studied has an «especially useful» gene variant that could make them a particularly desirable stem cell donor.