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Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… grants and contracts comprising the Hunter Kelly Newborn Screening Research Program and was a Project Scientist for … … Minear MA , Phillips MN, Kau A, Parisi MA. Newborn screening research sponsored by the NIH: From diagnostic … Allyse MA. Informed decision-making about prenatal cfDNA screening: An assessment of written materials . Ethics Med …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… with resilience to chronic stress in families engaged in high caregiver burden due to chronic illness. This work aims … on individual health outcomes, including lifestyle and screening behaviors. One of the section's major findings is … resilience or exacerbate vulnerability of families with high levels of caregiving burden. They recently completed a …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… clinical management. The Chandrasekharappa lab designed a high-density array comparative genomic hybridization … next-generation sequencing strategies for mutation screening. After finding exon skipping arising from a deep … genomics instability, the Chandrasekharappa lab employed high-density SNP arrays to detect the presence of de novo …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… John Henryism, and self reported physical health among high SES African-American men. American Journal of Public … care physician decision making in preconception genetic screening. Public Health Genomics , 13(6):336-44. 2010. [ … , 3:20. 2010. [ PubMed ] Bonham VL, Dover GJ, Brody LC. Screening student athletes for sickle cell trait--a social …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… S., Cohen-Pfeffer, J.L., Yu, C., Caggana, M. Newborn screening and early biochemical follow-up in combined … cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab , 99:116-123 . 2010. [ …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… A pan-cancer DNA methylation biomarker for plasma-based screening has enhanced early detection capabilities, while … cancer diagnostics, with broad implications for population screening and early intervention. By integrating genomic, …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… techniques in next generation sequencing and agnostic screening, the team tries to solve mysterious conditions that …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… of SAM samples, collaborating with researchers in SAM high-incidence countries to create a Kwashiorkor … of the most common monogenetic diseases in the world, with high mortality rates and a lowered life expectancy. Regular … patients with rare genetic disorders and directed a medium throughput core genetics laboratory, in addition to mentoring …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… clusters arise during oocyte aging in genomic regions with high double-strand-break incidence . Nat Genet . … BD. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn . Genet Med . … of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates …