Search Results
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… 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 …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… with these disorders exhibit various combinations of congenital malformations, overgrowth, birthmarks, … agents to develop approaches to treatment. In contrast to congenital malformations, mosaic overgrowth disorders have a … LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet , 32:175-9. 2002. [ PubMed …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… regulatory as the cause for autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 … FS, Manoli I . Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… can be seen at birth. This form of Type 1 is called congenital myotonic dystrophy. Congenital myotonic dystrophy has only been seen in Type 1 … born with signs and symptoms of myotonic dystrophy have congenital myotonic dystrophy. They have weakness of all …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… 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 AA, Okolo CM, Omotade OO. Major congenital malformations among paediatric admissions at …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye … appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of … Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (Clinical Genetics and …