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
Psychological and psychiatric service use among family caregivers of individuals with Angelman Syndrome: A cross-sectional study

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Early Growth Hormone Treatment Enhances Growth and Nutritional Status in Silver-Russell Syndrome

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An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits

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Revisiting primary hyperparathyroidism guidelines

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Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism

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Outcomes After Tonsillectomy in Children With Angelman Syndrome

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Parent-of-origin effects on complex traits in up to 236,781 individuals

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When Bone Forms Where It Shouldn’t: Heterotopic Ossification in Muscle Injury and Disease

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A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply

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Compound heterozygous mutations in BBS7 cause kidney abnormalities in Bardet-Biedl syndrome

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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 1159 FWCI198.506

Large-scale integration of the plasma proteome with genetics and disease

article Full Text OpenAlex 1044 FWCI97.76

A generalized linear mixed model association tool for biobank-scale data

article Full Text OpenAlex 473 FWCI49.37

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

article Full Text OpenAlex 285 FWCI27.068

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

article Full Text OpenAlex 217 FWCI12.765

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

article Full Text OpenAlex 198 FWCI19.21

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

article Full Text OpenAlex 190 FWCI50.207

Overview of the 2022 WHO Classification of Parathyroid Tumors

review Full Text OpenAlex 188 FWCI9.417

DNA methylation and regulation of gene expression: Guardian of our health

review Full Text OpenAlex 175 FWCI3.894

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

article Full Text OpenAlex 171 FWCI45.481