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Expression, Regulation, and Prognostic Significance in Pediatric Medulloblastoma.
Tanaka R, Umaru B, Sobo M, et al. Expression, Regulation, and Prognostic Significance in Pediatric Medulloblastoma. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.05.01.722294
PMCID
PMC13174423
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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, et al. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.01.002
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DNA methylation-environment interactions in the human genome.
Johnston RA, Aracena KA, Barreiro LB, Lea AJ, Tung J. DNA methylation-environment interactions in the human genome. eLife. 2024;12. doi:10.7554/eLife.89371
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Differential Impact of Smoking on Methylome and Transcriptome in Crohn's Disease and Ulcerative Colitis.
Ang QY, Plichta D, Kim S, et al. Differential Impact of Smoking on Methylome and Transcriptome in Crohn’s Disease and Ulcerative Colitis. Inflammatory bowel diseases. 2023. doi:10.1093/ibd/izad268
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Samarium Barbier reactions of alpha-iodomethyloxazoles and thiazoles with aliphatic aldehydes.
Williams DR, Berliner MA, Stroup BW, Nag PP, Clark MP. Samarium Barbier reactions of alpha-iodomethyloxazoles and thiazoles with aliphatic aldehydes. Org Lett. 2005;7(19):4099-102. doi:10.1021/ol051345v
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Lysine trimethylation regulates 78-kDa glucose-regulated protein proteostasis during endoplasmic reticulum stress.
Sieber J, Wieder N, Ostrosky-Frid M, et al. Lysine trimethylation regulates 78-kDa glucose-regulated protein proteostasis during endoplasmic reticulum stress. J Biol Chem. 2017;292(46):18878-18885. doi:10.1074/jbc.M117.797084
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Active genes are tri-methylated at K4 of histone H3.
Santos-Rosa H, Schneider R, Bannister AJ, et al. Active genes are tri-methylated at K4 of histone H3. Nature. 2002;419(6905):407-11. doi:10.1038/nature01080
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Methylation of histone H3 K4 mediates association of the Isw1p ATPase with chromatin.
Santos-Rosa H, Schneider R, Bernstein BE, et al. Methylation of histone H3 K4 mediates association of the Isw1p ATPase with chromatin. Mol Cell. 2003;12(5):1325-32.
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Replication and active demethylation represent partially overlapping mechanisms for erasure of H3K4me3 in budding yeast.
Radman-Livaja M, Liu CL, Friedman N, Schreiber SL, Rando OJ. Replication and active demethylation represent partially overlapping mechanisms for erasure of H3K4me3 in budding yeast. PLoS Genet. 2010;6(2):e1000837. doi:10.1371/journal.pgen.1000837
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Reduced histone biosynthesis and chromatin changes arising from a damage signal at telomeres.
O’Sullivan RJ, Kubicek S, Schreiber SL, Karlseder J. Reduced histone biosynthesis and chromatin changes arising from a damage signal at telomeres. Nat Struct Mol Biol. 2010;17(10):1218-25. doi:10.1038/nsmb.1897
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Ó³»­´«Ã½'s gene-editing technologies—CRISPR-Cas9, base editing, and prime editing—are being tested in more than 25 clinical trials to treat or cure leukemias, rare genetic diseases, high cholesterol, and other conditions.

NIH-funded discoveries from the Ó³»­´«Ã½ are powering nearly 20 clinical trials from companies testing new treatments for diseases like cancer and heart disease.

Ó³»­´«Ã½ developed a technology — partly supported by NIH funding —  that can detect trace amounts of cancer DNA from blood tests and help cancer patients find out their risk of disease recurrence earlier.

Using NIH funding, the Ó³»­´«Ã½â€™s Rare Genomes Project has worked with more than 1,300 families from all 50 U.S. states to diagnose rare genetic diseases.

Ó³»­´«Ã½ Clinical Labs has directly partnered with tens of thousands of cancer patients to analyze their DNA and accelerate research.

During the COVID-19 pandemic, Ó³»­´«Ã½ launched a large-scale diagnostic testing lab that processed over 37 million tests and saved state and federal programs nearly $2 billion.

The Ó³»­´«Ã½'s Cancer Dependency Map helps cancer researchers and drug developers discover therapeutic targets for new cancer treatments.

gnomAD, a large human genetic variant reference database developed by the Ó³»­´«Ã½ with NIH funding, has contributed to over 13 million genetic disease diagnoses since its launch in 2014.

Datasets generated at the Ó³»­´«Ã½ were used to train AlphaGenome, a cutting-edge AI model from Google DeepMind that predicts how genetic variants affect gene regulation.

the FDA granted accelerated approval for a lung cancer drug that was developed with Ó³»­´«Ã½ science and is for patients who otherwise had few treatment options.

David Liu and his team used NIH funding to invent precise gene-editing technologies, including one that may vastly improve access to genetic therapies for patients with rare disease.

NIH-funded Ó³»­´«Ã½ research is shedding new light on the biological roots of many diseases, including Alzheimer’s, Parkinson’s, and Huntington’s disease.

Scientists with Ó³»­´«Ã½â€™s Stanley Center for Psychiatric Research have found key genetic factors for schizophrenia and bipolar disorder.

Ó³»­´«Ã½ scientists are using AI to design new antibiotics and other drugs, predict drug toxicity, and pinpoint genes, molecules, and cells that might be causing disease.

Ó³»­´«Ã½ Clinical Labs has sequenced nearly 900,000 whole human genomes, producing, on average, one human genome sequence every three minutes.

Ó³»­´«Ã½ Clinical Labs developed a new method for genome sequencing that costs 75 percent less than existing methods.

 Ó³»­´«Ã½ Clinical Labs is the largest genome sequencing center of its kind in the world.

Ó³»­´«Ã½ Clinical Labs has partnered with MyOme and Southern Research Institute in Birmingham, Alabama to provide free genetic tests to people in Alabama.

Ó³»­´«Ã½ Clinical Labs has partnered with Mass General Brigham and Everygene to provide no-cost genetic testing to people throughout the US with cardiomyopathy, a disorder that can cause sudden cardiac death.

Ó³»­´«Ã½ Clinical labs and Mass General Brigham used data from NIH’s All of Us program to develop a genetic test that predicts risk of eight different heart conditions. This test is now available to patients.

Thanks to NIH funding, Ó³»­´«Ã½ Clinical Labs is collaborating with scientists across the U.S. to sequence DNA from tens of thousands of children with cancer and birth defects to study common biological pathways.

Ó³»­´«Ã½ Clinical Labs holds the world record for fastest DNA sequencing, completing whole genome sequencing and analysis in less than four hours at their facility in Burlington, Massachusetts.

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