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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 …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… Jie Zhou, and Dr. Adebowale Adeyemo at the NIH; Professors Thomas Johnson, Johnnie Oli, and Clement Adebamowo in …