Search Results
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.
… American Journal of Bioethics. 21(10):14-17. [ PubMed ] Berkman BE, Mastroianni AC, Jamal L, Solis C, Taylor HA, Hull … of Bioethics, 17(4):62-63. 2017. [ PubMed ] Chen S, Berkman BE, Hull SC . Recontacting Participants for Expanded … [ PubMed ] Hull SC , Gooding H, Klein AP, Warshauer-Baker E, Metosky S, Wilfond BS. Genetic Research Involving Human …
Event
On November 1-5, 2023, 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.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… All times are in Eastern Time (ET). … Walter E. Washington Convention Center … DC … 801 Mt Vernon Place NW …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… 4284–4295. PMCID: PMC191644. Liu, S.-L., Mittler, J. E., Nickle, D. C., Mulvania, T. M., Shriner , D ., Rodrigo, … 81(2): 115–121. Nickle, D. C., Shriner , D ., Mittler, J. E., Frenkel, L. M., and Mullins, J. I. 2003. Importance and … F. W., Bakker, S. J. L., Barr, R. G., Baumeister, S. E., Benjamin, D. J., Bergmann, S., Boerwinkle, E., Bottinger, E. …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… of DNA sequence data. … Bouffard, G., J. Ostell, and K. E. Rudd. GeneScape: a relational database of Escherichia coli … T.J., Portnoy M.E., Dietrich N.L., Akhter N., Ayele K., Benjamin B., Cariaga K., Brinkley C.P., Brooks S.Y., Granite … Sequencing Program Authors., Jesse Becker, Betty Benjamin, Robert Blakesley, Gerry Bouffard, Shelise Brooks, …
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Adam Politis Alyssa Jones Amalia Dutra Belen Hurle Ben Berkman Ben Solomon Caralynn Wilczewski Carolyn Hutter …
Educational Resources
NHGRI participates in the South By Southwest (SXSW) conference to help increase genomic literacy.
… own healthcare? Panelists: Larry Brody, Elena Ghanaim, Benjamin Berkman … … SXSW 2020 was cancelled due to the Coronavirus …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… of the human brain and nervous system. … Giniger, E. How do Rho family GTPases direct axon growth and guidance? … ] Crowner, D., Le Gall, M., Gates, M.A. and Giniger, E. Notch steers Drosophila ISNb motor axons by regulating the … Biol , 13: 967-972. 2003. [ PubMed ] Goeke, S., Greene, E.A., Gates, M.A., Grant, P.K., Crowner, D., Aigaki, T. and …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Mutations … 2019 Seehra G, Solomon B, Ryan E, Steward AM, Roshan Lal T, Tanima Y, Lopez G, Sidransky E. Five-parameter evaluation of dysphagia: A novel … 2019. Eghbali A, Hassan S, Seehra G, Fitzgibbon E, Sidransky E. Ophthalmological findings in Gaucher disease …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… for GD, and may have therapeutic utility in PD. … Aflaki E, Westbroek W, Sidransky E. The complicated relationship between Gaucher disease and … B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… M.D. Gaucher disease, Lysosomal storage diseases Benjamin Solomon, M.D. Clinical Director, NHGRI Erin Strovel, …