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Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
Event
On January 25, 2023, the National Human Genome Research Institute will hold a roundtable on social and behavioral genomics.
File
… Types of Grants Grant Type Description Project Period Max Direct Cost R01 Regular research grant 3 - 5 years … to existing grants for bioethics & policy work • $100,000 max • Due March 20 • Pilot work • 24 Institutes • Many with …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2427F. Yonit Addissie: Behavioral Phenotype of Muenke Syndrome. (FGFR3-Related Craniosynostosis) (Clinical …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez A, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak …
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.
… ] Koretsky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC . Towards a More Representative Morphology: …
About Genomics
RNA sequencing and the detection of RNA modifications have recently gained significant attention in the genomics community. New genomic methods and technologies are still needed to advance basic and clinical research into human biology and disease.
File
… of Suscept ibility to Severe Fungal Infections Maximilian Muenke, M.D. National Human Genome Research Institute, NIH …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch. ​
… ] Kundu M, Javed A, Jeon J-P, Horner A, Shum L, Eckhaus M, Muenke M, Lian J, Yang Y, Nuckolls GH, Stein G, and Liu PP. …
Clinical Research
A study for patients with unexpected genetic results
… OTC SDHAF2 TP53 APC DES LMNA PALB2 SDHB TPM1 APOB DSC2 MAX PCSK9 SDHC TRDN ATP7B DSG2 MEN1 PKP2 SDHD TSC1 BAG3 DSP …