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Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… on understanding the causes and biology of a number of congenital disorders as well as applying emerging technologies and … Solomon, Ben Solomon, pediatrics, clinical genetics, congenital disorders, rare diseases … Dr. Benjamin Solomon is …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Dr. Brooks studies a potentially blinding congenital malformation of the eye called uveal coloboma. The … novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human … Center for Precision Health Research. … Brian Brooks, congenital malformation, Mendelian genetics, complex genetics …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and … protocols evaluating patients with lysososmal storage disorders and prospectively studying patients and relatives … contributing to clinical heterogeneity in single gene disorders, and to develop new therapies for patients. The …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… genomics of complex disease, focusing on cardiometabolic disorders and complex disorders of childhood. He has … recently, his research has grown to include genetics of congenital heart defects. This collaborative study is … the collection of a rich clinical epidemiology dataset of congenital heart defects in an African population … Adeyemo …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… and genetic determinants of familial tumor-predisposition disorders. The goal of his work is to improve … prediction, while translating insights garnered from rare disorders to a broader understanding of cancer occurrence. … genes in NF1-associated plexiform neurofibromas (PNs), congenital tumors affecting up to 50 percent of people with …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… focus is on one of the most common neuropsychiatric disorders of childhood: attention deficit hyperactivity … between polygenic risks for childhood neuropsychiatric disorders, symptoms of attention deficit hyperactivity …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… ] Shaw P, Gogtay N, Rapoport JL. Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories . …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… clinical and research interests have been lysosomal disorders affecting the central nervous system. She is the … and adults with glycosphingolipid and glycoprotein disorders, including Tay-Sachs and Sandhoff diseases, GM1 … program on glycosphingolipid and glycoprotein storage disorders. These rare, uniformly fatal, disorders affect …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He … of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which … G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …