Search Results
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… Barbara Thomas, Ph.D. … Dr. Barbara Thomas is the Scientific Review Officer and Executive … through a contract with Johns Hopkins University. Dr. Thomas is involved with all aspects of the program, including …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Dr. James Thomas obtained his A.B. in biology from Washington … Genetics at Case Western Reserve University. In 1997, Dr. Thomas joined the NHGRI as a postdoctoral fellow and began … in the emerging field of comparative genomics. Dr. Thomas went on to be an assistant professor in the Department …
Educational Resources
A centimorgan (abbreviated cM) is a unit used to measure genetic linkage.
… … Linkage Analysis, Genetics, Chromosome, Base Pairs, Thomas Hunt Morgan, Fruit Flies … A centimorgan (abbreviated …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's corresponding author and … yielding as many as 100 to 500 bad gene variants, Dr. Markello said. The exome analysis included programs aimed at …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Kwon JH, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH Tifft CJ. … Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. MED23-assoicated … M.D. — Internal Medicine, San Diego, CA Laura Meissner — Thomas Jefferson School of Medicine, Philadelphia, PA Lindsay …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… 1988. Sonies B, Ekman EF, Andersson H, Adamson M, Kaler S, Markello T, Gahl WA. Swallowing dysfunction in nephropathic … and renal function . N Engl J Med, 324:1318-25. 1991. Markello TC, Bernardini IM, Gahl WA. Improved renal function … Engl J Med , 358:592-604. 2008. St. Hilaire C, Ziegler SG, Markello T, Brusco A, Groden C, Gill F, Carlson-Donohoe H, …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl … Medicine 21e. McGraw Hill; 2022. Gahl WA, Adams DR Markello TC, Toro C , Tifft CJ. Genetic approaches to rare …
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.
… changes. (Clinical Genetics and Dysmorphology) 2449W. Thomas Markello: TWIST2 is the cause of Ablepharon Macrostomia and …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, … view. Genome Biol , 12(9):128. 2011. [ PubMed ] Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, … Riebow N, Schandler K, Schmidt B, Sison C, Stantripop M, Thomas J, Thomas P, Vemulapalli M, Young A, Mullikin JC, …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… 120(1):303-14. 2010. [ PubMed ] St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, …