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American Journal of Human Genetics
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#1Daniel Seidman (Cornell University)H-Index: 2
#2Sushila A. Shenoy (Cornell University)H-Index: 4
Last. John Blangero (University of Texas at Austin)H-Index: 93
view all 11 authors...
Identical by descent (IBD) segments are a useful tool for applications ranging from demographic inference to relationship classification, but most detection methods rely on phasing information and therefore require substantial computation time. As genetic datasets grow, methods for inferring IBD segments that scale well will be critical. We developed IBIS, an IBD detector that locates long regions of allele sharing between unphased individuals, and benchmarked it with Refined IBD, GERMLINE, and ...
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#1Xiaomin Dong (University of Melbourne)
#2Natalie B Tan (University of Melbourne)H-Index: 1
Last. Shan Zong
view all 17 authors...
Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with latent transforming growth factor beta-1 (TGF- β1) and anchors it on the cell surface; this anchoring is required for activation of TGF-β1 in macrophages and microglia. We report six individuals from four families with bi-allelic variants in NRROS. All affected individuals had neurodegenerative disease with refractory epilepsy, developmental regression, and reduced whit...
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#1Francesca MattioliH-Index: 2
#2Gaëlle HayotH-Index: 1
Last. Aida Telegrafi (GeneDx)H-Index: 8
view all 28 authors...
The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific alternative splicing (AS), previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticit...
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#1Dongxue Mao (BCM: Baylor College of Medicine)H-Index: 2
#2Chloe M. Reuter (Stanford University)H-Index: 7
Last. Matthew T. Wheeler (Stanford University)H-Index: 30
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EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification o...
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#1Kohei Hamanaka (YCU: Yokohama City University)H-Index: 3
#2Eri Imagawa (YCU: Yokohama City University)H-Index: 9
Last. Takeshi Kawashima (YCU: Yokohama City University)
view all 24 authors...
De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs often cluster in a specific region. One such region is the last exon and the last 50 bp of the penultimate exon, where truncating DNVs cause escape from nonsense-mediated mRNA decay [NMD(−) region]. Such variants can have dominant-negative or gain-of-function effects. Here, we first developed a resource of rates of truncating DNV...
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Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) 350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, l...
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#1Lucia V. Schottlaender (CONICET: National Scientific and Technical Research Council)
view all 87 authors...
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar atax...
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Molecular biology
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