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Event
On October 25-29, 2022, 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.
… is a common mechanism of cellular mosaicism in Fanconi anemia Board No. PB2649 Frank Donovan Convention Center, …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… depletion, embryonic lethality, CNS malformations, and anemia. Proc Nat Acad Sci USA , 103:15927-15932. 2006. [ …
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. ​
… SC*. Multiplexed CRISPR/Cas9-mediated knockout of Fanconi anemia pathway genes in zebrafish revealed their roles in …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… cause of an infantile-onset syndrome with s ideroblastic anemia, B cell i mmunodeficiency, recurrent f ever, and d …
Archive
… NIH researchers identify genetic cause of anemia disorder … Archive …
File
… S, et al. FANCA Gene Mutations in North African Fanconi Anemia Patients. Am J Med Genet A. 2020. (Submitted). 114. … Diagnosis of Radial Ray Defect Associated with Fanconi Anemia. Journal of Fetal Medicine. 2020. (Accepted). 132. … 35. Thakur N , Akhundi RS, Kunwar AJ. Sickle Cell Anemia and Its Coexistence with Alpha and Beta Thalassemia in …
Archive
… New Therapies for Sickle Cell Anemia in the Genome Era - Summary of Meeting Conclusions … …
Archive
… New Therapies for Sickle Cell Anemia in the Genome Era - Attendees' Votes Among Options for …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… A . Genetic modifiers of long-term survival in sickle cell anemia. Clin Transl Med . 10(4):e152. 2020. [ PubMed ] … Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma …
File
… approximate number of births of babies with sickle cell anemia (SS) each year in Africa is also shown. 46 Genomics … severe forms of thalassaemia, children with sickle cell anemia do not usually require lifelong transfusion but they …