专题：Genetic Syndromes and Imprinting

This cluster of papers explores the phenomenon of genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. It covers topics such as parental influence on gene expression, epigenetic regulation through DNA methylation, and the role of imprinted genes in syndromes like Prader-Willi and Angelman. Additionally, it delves into the mechanisms of imprint control regions and the involvement of non-coding RNA in regulating imprinted gene networks.
最新文献
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

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Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1 ‐Related Disorders

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Engaging patient-led rare disease organizations to advance research – through the lens of Bardet–Biedl syndrome

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Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos

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Multi-omic integration reveals dynamic changes in human placental metabolism across gestation

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Clinical Illustration: Autosomal Recessive Polycystic Kidney Disease

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Predictors of persistently elevated parathyroid hormone levels after parathyroidectomy: experience from a reference center

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Pediatric MASLD in China: epidemiology, screening, diagnosis, and management

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A PRDM16-CtBP1/2 complex interacts with HDAC1/2 to regulate transcriptional programs of neurogenesis and guide cortical neuron migration

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Thyroid disorders and pregnancy loss: a bidirectional mendelian randomization exploration

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近5年高被引文献
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

article Full Text OpenAlex 1532 FWCI403.92171441

A computational solution for bolstering reliability of epigenetic clocks: implications for clinical trials and longitudinal tracking

article Full Text OpenAlex 425 FWCI56.98102015

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

article Full Text OpenAlex 260 FWCI34.45936423

Overview of the 2022 WHO Classification of Parathyroid Tumors

review Full Text OpenAlex 226 FWCI46.98973194

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

article Full Text OpenAlex 216 FWCI78.6806679

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

article Full Text OpenAlex 198 FWCI26.09066149

Pathobiology of the Klotho Antiaging Protein and Therapeutic Considerations

review Full Text OpenAlex 180 FWCI38.1791572

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

article Full Text OpenAlex 173 FWCI35.44743916

DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits

article Full Text OpenAlex 167 FWCI20.55254938

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy:Recommendations of the ESE Educational Program of Parathyroid Disorders

article Full Text OpenAlex 165 FWCI34.19342101