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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 is 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 …
File
… of Suscept ibility to Severe Fungal Infections Maximilian Muenke, M.D. National Human Genome Research Institute, NIH …
Staff
Dr. Sara Chandros Hull is a 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: …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… ] 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 …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… Carolina at Chapel Hill Feng Yue Northwestern University Max Libbrecht Simon Fraser University Jian Ma Carnegie Mellon …
File
… Melanie Myers Jeff Botkin Steve Joffe Sandra Soo-Jin Lee Max Mehlman I. General NHGRI Updates II. General NIH Updates …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… authors are in bold. … Ekure EN, Sokunbi O, Kruszka P, Muenke M, Adeyemo AA . Hajdu-Cheney syndrome with atypical … [ PubMed ]  Ekure EN, Musa KO, Ulonnam N, Kruszka P, Muenke M, Adeyemo AA . Ambiguous genitalia, giant congenital … C, Addissie YA, Olusegun-Joseph A, Ikebudu D, Berger SI, Muenke M, Han Z, Kruszka P. Exome Sequencing and Congenital …