Search Results
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… Colley, ERP Luis Cubano, ERP Christine Daulton, DPCE Valentina di Francesco , ERP Argenia Doss, ERP Jyoti Dayal, ERP Carla …
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…  NIH Data Commons Vivien Bonazzi  NHGRI Data Sandbox Valentina Di Francesco  Genomics and Society Working Group Lisa Parker  …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… 2021 Apr 12. [ PubMed ] Green ED, Gunter C, Biesecker LG, Di Francesco V, Easter CL, Feingold EA, Felsenfeld AL, Kaufman …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the … B, Kuhel WI, Chandrasekharappa SC, Smogorzewska A, Kutler DI. Postoperative clinical radiosensitivity in patients with …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… Wojczynski MK, Wu T, Zheng W, Zhu X, Bouchard B, Chasman DI, Evans MK, Fox ER, Gudnason V, Hayward C, Horta BL, Kardai … V, Majarian T, Sung YJ, Schwander K, Feitosa MF, Chasman DI, Bentley AR , Rotimi CN , Cupples LA, de Vries PS, Brown … Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, Willems van Dijk K, Watkins H, …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… DNA at precise locations, a team led by Silvio Alessandro Di Gioia, Ph.D., and Dr. Engle, generated zebrafish with a …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry … in methylmalonic acidemia . JCI Insigh t. 2018;3(23). Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.