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… P et al. Loss of heterozygosity in children with multiple congenital anomaly. 2017. (In preparation). 4. Ariani Y , Priambodo R et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In … M et al. Genomic and Environmental Factors Influencing Congenital Heart Disease Risk in Africa. (Submitted to …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… tube defects (NTDs) and other birth defects. NTDs and congenital heart defects are some of the most common birth …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Brown LH, Merideth M , Owen CM, et al. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… of the second trimester, there is less risk of developing congenital disorders when chemotherapy is given in the second …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… the identification of genes for Mendelian syndromes (e.g., congenital cataracts, Cranio-Lenticulo-Sutural-Dysplasia), 2) …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Health NIH Common Fund's Kids First WGS Data for Congenital Cranial Dysinnervation Disorders Available NIH …
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… with high clinical validity–Genes strongly implicated in congenital or undiagnosed diseases–Genes depleted for …
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… Human Genome Research Institute, NIH Projects: Genetics of Congenital Heart Disease in Africa; Genetic Basis of Acquired …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 Jun 29. doi: …