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Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… 2001. Sood R , Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Pras E, Balow JE, Centola M, Deng … mapping of two new DNA markers in Xq26-q28 relative to the fragile X syndrome locus . Am J Hum Genet 47(3): 395-401, 1990. … …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… cells. Because most progeria patients are in extremely fragile health, there are few opportunities to conduct human … Levy JM, Xiong ZM, Tavarez UL, Davison LM, Gete YG, Mao X, Newby GA, Doherty SP, Narisu N, Sheng Q, Krilow C, Lin CY, … M, Erdos MR, Cao K, Faddah DA, Tavarez UL, Conneely KN, Qu X, San H, Ganesh SK, Chen X, Avallone H, Kolodgie FD, Virmani …
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… finite and highly demanded research funds, revealing the “fragile nature” of their funding support. This situation is …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… remembered for changing the world’s understanding of Fragile X syndrome Lander, Collins set forth a vision for ARPA-H …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… and fetuses with trisomies 21 or 18, Turner syndrome (45, X), Fragile X, twin to twin transfusion syndrome, and myelomeningocele. …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… a link between this SNP and the risk of one disease, fragile X syndrome. I could only dream that 20+ years later, we would …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2024.
… Heterochromatinization of Long Synaptic Genes in Fragile X Syndrome” Owen et al. – “Design Principles Of 3D Epigenetic …
File
… screening for specific disorders(cystic fibrosis (CF), fragile X syndrome an d FMR1 -related disorders, spinal muscular …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… [ PubMed ] Hughes O, Bentley AR , Breeze CE, Aguet F, Xu X, Nadkarni G, Sun Q, Lin BM, Gilliland T, Meyer MC, Du J, … EG, Valladares-Salgado A, Wacher-Rodarte N, Dueker ND, Guo X, Hai Y, Adeyemo A , Best LG, Cai J, Chen G , Chong M, … Americans. Immunogenetics . 2011. [ PubMed ] Peprah E . Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among …