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Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...
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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...
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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect...
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A complete chromosome substitution map** panel reveals genome-wide epistasis in Arabidopsis
Chromosome substitution lines (CSLs) are tentatively supreme resources to investigate non-allelic genetic interactions. However, the difficulty of...
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Using a new analytic approach for genoty** and phenoty** chromosome 9p deletion syndrome
Using a new analytic method (“unique non-overlap** region” (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of...
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Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Cardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in...
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Dissecting the sequential evolution of a selfish mitochondrial genome in Caenorhabditis elegans
Mitochondrial genomes exist in a nested hierarchy of populations where mitochondrial variants are subject to genetic drift and selection at each...
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in...
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis...
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Ecological genetics of isolated loach populations indicate compromised adaptive potential
Many endangered species live in fragmented and isolated populations with low genetic variability, signs of inbreeding, and small effective population...
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Development and optimization of expected cross value for mate selection problems
In this study, we address the mate selection problem in the hybridization stage of a breeding pipeline, which constitutes the multi-objective...
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants
The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate pharmacogenetics implementation in clinical practice by develo** evidence-based...
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Integrating environmental gradients into breeding: application of genomic reactions norms in a perennial species
Global warming threatens the productivity of forest plantations. We propose here the integration of environmental information into a genomic...
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Cryptic diversity of shallow and mesophotic Stephanocoenia intersepta corals across Florida Keys National Marine Sanctuary
Population genetic analyses can provide useful data on species’ regional connectivity and diversity which can inform conservation and restoration...
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Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations...
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Severity in the genomic age: the significance of lived experience to understandings of severity
This article explores the significance of lived experience to understandings of severity in the genomic age. It draws upon data from structured...