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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 is the director of the NIH Intramural Sequencing … genomics protocols to meet their research needs. 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 …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… visit our website . …   NHGRI recently appointed  James Thomas, Ph.D. , as the new director of the  NIH Intramural … Charles Rotimi, Ph.D., NHGRI’s scientific director. “Dr. Thomas’ vision for NISC will further expand the institute’s … resources and propel robust, cutting-edge research.”  Dr. Thomas obtained his B.A. in biology from Washington …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs. 
Thomas to lead intramural center’s efforts in driving … National Institutes of Health (NIH), has selected James Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will oversee the importation and use of DNA sequencing …
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 …