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ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… are performing. Thomas Montine, Stanford University Sharon E. Plon, Baylor College of Medicine This group develops … if the risk were known Pediatric Actionability Jessica E. Hunter Bradford Powell Identify those human genes that, … K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey E, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… His research also includes genetics of orofacial clefts (i.e. cleft lip/palate). In collaborative studies, his research … Agyenim-Boateng K, Eghan BA Jr, Oli J, Okafor G, Ofoegbu E, Osotimehin B, Abbiyesuku F, Johnson T, Rufus T, Fasanmade … 18(11):1085-1087. 2016. [ PubMed ] Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC. Towards …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Psychiatry.  23:683-690. 2018. [ PubMed ] Sudre G, Szekely E, Sharp W, Kasparek S & Shaw P. Multimodal mapping of the … of Science . 114(44):11787-11792. 2017. [ PubMed ] Szekely E, Sudre GP, Sharp W, Leibenluft E, & Shaw P. Defining the Neural Substrate of the Adult …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… regulation related to common, complex diseases.  Audrey E. Hendricks, Ph.D. University of Colorado, Denver Develop …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… activities directly related to sequence production (e.g., laboratory information management systems and initial … covered by significant subsidies to a sequencing center (e.g., a grantee institution providing funds for purchasing … Data analysis downstream of initial data processing (e.g., sequence assembly, sequence alignments, identifying …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… and Humanities University of Washington Francisco E. Baralle, M.D., Ph.D. Director-General, International …
File
… 9.15 - 10.15 am Mitochondrial Disorders Ms. Lynn e Wolfe , CRNP, NHGRI 10.15 - 10.30 am Break 10.30 - 11.30 am … 9.00 - 10.00 am What Makes Research Ethical? Mr. Ben Berkman, Deputy Director, Bioethics Core, NHGRI 10.00 - 10.30 …
File
… the clinical setting with our NHGRI clinical director, Dr. Benjamin Solomon. Dr. Solomon will answer questions from …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… personalized medicine: driver, impediment, or both? Gary E. Merchant 2011 Summary Statement Full Application … we have redacted some information from these documents (e.g., budgets, social security numbers, home addresses, …  Most substantive components of the application (e.g. Project Abstract, Budget Justification, Specific Aims, …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… group has discovered mutations in a number of genes (e.g., AMELX, ENAM, KLK4, MMP20 , and DSPP ). A large … MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive … Cogulu D, Emingi G, Ozenen DO, Han ST, Sulima PP, Firatli E, Hart TC. Novel FAM83H mutations in Turkish families with …