January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
13 citations
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October 2010 in “Pharmacogenomics” Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
89 citations
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April 2023 in “Forensic Science International Genetics” Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
7 citations
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June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
1 citations
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August 2025 in “Genes” Genetic markers linked to sheep body traits were identified, aiding future breeding.
1 citations
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June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
September 2021 in “European Neuropsychopharmacology” The research explores how gut bacteria and sleep patterns are related in mental health disorders.
PCOS involves genetic and immune factors, especially T cells, affecting its development.
24 citations
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June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
11 citations
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April 2023 in “Frontiers in Pharmacology” Integrating biological networks improves drug repurposing and ADR prediction.
August 2024 in “Clinical & experimental pathology” Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
2 citations
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July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
1 citations
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October 2023 in “Animals” Certain DNA regions in alpacas are linked to fiber diameter.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
55 citations
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October 2015 in “Journal of Investigative Dermatology” Alopecia areata is linked to immune-related genes, suggesting JAK inhibitors as a potential treatment.
8 citations
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May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
14 citations
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June 2021 in “British Journal of Dermatology” The BIOMAP glossary standardizes data to improve research on atopic dermatitis and psoriasis.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
2 citations
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October 2024 in “Phenomics” Certain genetic markers can help predict wool production in U.S. sheep.