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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, …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… Medicine 21e . McGraw Hill; 2022. Gahl, WA, Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. (2019). Genetic …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… Acosta MT , Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Risks and … Epub 2021 Sep 2. Kaczorowski JA, Smith TF, Shrewsbury AM, Thomas LR, Knopik VS, Acosta MT . Neurofibromatosis Type 1 …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
​
… Deming C, Conlan S, Zellmer CJ, Michelin AV, Lee-Lin SQ, Thomas PJ, Park M, NISC Comparative Sequencing Program, … Dekker JP, Lau AF, Khil, P, Odom, RT, Deming C, Park M, Thomas PJ, NISC Comparative Sequencing Program, Henderson, … 854-866. 2016. [ PubMed ] Conlan S, Park M, Deming C, Thomas PJ, Young AC, Coleman H, Sison C; NISC Comparative …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… ] Vlachos A, Farrar JE, Atsidaftos E, Muir E, Narla A, Markello TC, Singh SA, Landowski M, Gazda HT, Blanc L, Liu … ] Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM. …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… expression. Science , 299(5607):697-700. 2003. [ PubMed ] Thomas J.W., Touchman J.W., Blakesley R.W., Bouffard G.G., … S.M., Margulies E.H., Blanchette M., Siepel A.C., Thomas P.J., McDowell J.C., Maskeri B., Hansen N.F., Schwartz … Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… 2016. [ PubMed ] Conlan S, Park M, Deming C, Thomas PJ, Young AC, Coleman H, Sison C, NISC Comparative … Nature, 513(7520):59-64. 2014. [ PubMed ] Conlan S, Thomas PJ, Deming C, Deming C, Park M, Lau AF, Dekker JP, … Y-C, Boitano M, Dayal J, Brooks SY, Schmidt B, Young AC, Thomas JW, Bouffard GG, Blakesley RW, NISC Comparative …
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.
… Sarah Bates Mary Beth Gardiner Jill Thomas Britny Kish Illustrations/Animations: Darryl Leja …
Data Sharing
The NHGRI Data Sharing Governance Committee is responsible for the activities necessary for the Institute to implement and maintain NIH and NHGRI data sharing policies.
… Ph.D., MPH Co-chair Division of Genomic Medicine  Barbara Thomas, Ph.D. (DAC Chair) Co-Chair Division of Extramural …