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Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… DA. Heterozygous germline hCHK2 mutations in Li-Fraumeni Syndrome. Science, 286:2528-2531. 1999. [ PubMed ] Cantor S, … cancer cell lines. Nature, 413:311-316. 2001. [ PubMed ] *Lynch TJ, *Bell DW, *Sordella R, Gurubhagavatula S, Okimoto … RA, Brannigan BW, Harris PL, Driscoll DR, Fidias P, Lynch T, Sharma SV, Settleman J, and Haber DA. Irreversible …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated with colorectal cancer.  At …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… 23:7, 5-8. [ PubMed ] Spector-Bagdady K, Fernandez Lynch H, Bierer BE, Gelinas L, Hull SC , Magnus D, Meyer MN, … R, Spector-Bagdady K Sugarman J, Wilfond B, Fernandez Lynch H (2021) An Ethics Framework for Consolidating and …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer . Genet Med . …
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… Tier 1 Toolkit – Information for patients and providers on Lynch syndrome https://www.cdc.gov/ genomics/implementation/toolkit/lynch_4.htm Other / No / Free 2020_02_25: 1) Name of …
File
… National Quality Forum (NQF) • Tumor-based screening for Lynch syndrome followed by cascade screening in relatives • BRCA1/2 …
File
… Conditions Genes Panel 1 Panel 2 Panel 3 Panel 4 Lynch MLH1, MSH2, PMS2, MSH6, EPCAM ✔ ✔ ✔ ✔ Autosomal … Compared to Standard of Care or Next Best Strategy 5 Lynch genes 10 genes =5+AD  Penet 11 genes= 10+AR  Penet 19 …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.