Categoría: Articulos
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Laparoscopic management of cholecystohepatic duct: A five-case series and technical considerations [ Author ] Tetsuya Shimizu,Yoichi Kawano,Akira Matsushita,Yoshiaki Mizuguchi,Tomohiro Kanda,Junji Ueda,Hiroyasu Furuki…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Laparoscopic management of cholecystohepatic duct: A five-case series and technical considerations [ Author ] Tetsuya Shimizu,Yoichi Kawano,Akira Matsushita,Yoshiaki Mizuguchi,Tomohiro Kanda,Junji Ueda,Hiroyasu Furuki…
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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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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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A stubborn medical mystery: Insights into signs and origins of a disorder that causes overly flexible joints
Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected gene product affects the f…
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A stubborn medical mystery: Insights into signs and origins of a disorder that causes overly flexible joints
Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected gene product affects the f…
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A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
Mok et al. identify a recurrent de novo missense variant, c.1126G>A (p.Glu376Lys), in BMPR2 in individuals presenting with neurodevelopmental symptoms. Using Drosophila functional assays, they show that this allele possesses ligand-independent, type-1-…
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International experiences of genomic newborn screening: Lessons from over 10,800 newborns
This perspective summarizes early experiences from genomic newborn screening studies, totaling over 10,800 infants from the US, Belgium, and Australia. While these provide data on technical feasibility and likely volumes of screen-positive results, man…
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The ten-year evolution of Sherloc, a points-based framework for genetic variant classification
Variant classification underpins the clinical utility of genetic testing. Sherloc is a refinement of the 2015 ACMG/AMP guidelines that implements a structured, points-based scoring framework. It has been applied to 2.6 million variants through 19 versi…
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<i>NSMCE2 / MMS21</i> structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease
European Journal of Human Genetics, Published online: 21 September 2026; doi:10.1038/s41431-026-02222-7NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease