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Event

2022 ASHG Annual Meeting

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, …

News Release

NHGRI researchers to present talks, posters at ASHG annual meeting

NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.

… mosaicism in three siblings affected with Fanconi anemia group FA-G. (Cancer Genetics) 2976T. May Christine …

Fact Sheets

Breve guía de genómica

ADN es el compuesto químico que contiene las instrucciones necesarias para desarrollar y dirigir las actividades de casi todos los organismos vivos.

… otras enfermedades. Éstas eran afecciones, tales como la anemia drepanocítica, que tienen patrones de herencia muy …

Staff

Leslie G. Biesecker, M.D.

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

Raman Sood, Ph.D.

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

Ivona Aksentijevich, M.D.

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 …