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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 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 …
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 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: …
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. …
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.
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.
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.
… 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 …