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Browsing Tag

Human Genetics

97 posts
GGenetics
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

  • 9 June 2025
Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on…
GGenetics
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
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RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network

  • 8 June 2025
Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao Y-HE, et al. A multiplexed assay for…
GGenetics
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
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Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement

  • 6 June 2025
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
GGenetics
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
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A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot

  • 6 June 2025
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
GGenetics
Genomics of host–microbiome interactions in humans
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Genomics of host–microbiome interactions in humans

  • 4 June 2025
Valdes, A. M., Walter, J., Segal, E. & Spector, T. D. Role of the gut microbiota in nutrition…
GGenetics
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
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An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression

  • 3 June 2025
Simulations In order to test this novel application of the method we first simulated GWAS of disease incidence…
GGenetics
Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters
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Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters

  • 2 June 2025
Inclusion criteria and ethical considerations Between 7.5 and 15 ml of patient blood in EDTA vacutainers was collected upon…
GGenetics
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis
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Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis

  • 2 June 2025
Amyotrophic lateral sclerosis (ALS) is a condition that in recent years has slowly but surely shifted its position…
GGenetics
Plasma proteome variation and its genetic determinants in children and adolescents
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Plasma proteome variation and its genetic determinants in children and adolescents

  • 2 June 2025
Discovery and replication cohorts Our discovery cohort included 2,147 children and adolescents aged 5–20 years from the HOLBAEK Study,…
GGenetics
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
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MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients

  • 31 May 2025
Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101–8. Article  CAS  PubMed …
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