Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… cblC. J Inherit Metab Dis , 32:728-731. 2009. [ PubMed ] Manoli I, Venditti C.P.: Methylmalonic Acidemia (Sept 2010). … of Washington, Seattle, 1997-2010. [ PubMed ] Hauser N.S., Manoli, I., Graf J.C., Sloan J., and Venditti C.P. Variable … Dis , July 12, 2011. [ PubMed ] Sloan J.L., Johnston J.J., Manoli I., Chandler R.J., Krause K., Carrillo-Carrasco N., …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… , 15:1102-1110. 2005. [ PubMed ] Galeano B, Klootwijk R, Manoli I, Sun MS, Ciccone C, Darvish D, Starost MF, Zerfas … [ PubMed ] Klootwijk R.D., Savelkoul P.J.M., Ciccone C., Manoli I., Caplen N.J., Krasnewich D.M., Gahl W.A., Huizing … Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk RD, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, …
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. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… [ PubMed ] 2014 Huizing M, Malicdan MC, Krasnewich DM, Manoli I, Carrillo-Carrasco N. GNE Myopathy . In: Valle D, … Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk RD, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, … 2009. [ PubMed ] 2007 Galeano B, Klootwijk R, Manoli I, Sun MS, Ciccone C, Darvish D, Starost MF, Zerfas …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… and genotype . Am J Med Genet A . 2022;188(9):2724-31. Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… SS, Elkins SL, Capela T, Chowdhury A, Li L, Chandler RJ, Manoli I, Andres-Mateos E, Johnston LPM, Vandenberghe LH, …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… 39:17-24. 2016. [ PubMed ] Harrington, E.A., Sloan, J.L., Manoli, I., Chandler, R.J., Schneider, M., McGuire, P.J., …