Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… familial idiopathic scoliosis and kyphoscoliosis, and craniosynostosis). Methodological work includes: 1) advances … sequencing and analysis of a large family with metopic craniosynostosis (Simeon Boyadjiev), and 5) targeted or whole … identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet , …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… of the spine of greater than 10 degrees, as well as craniosynostosis, a premature fusion of sutures in the skull. … and Statistical Genomics Branch, idiopathic scoliosis, craniosynostosis … Dr. Wilson officially retired from The …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… of Medicine. The first lecture, Genetics and Genomics of Craniosynostosis Syndromes , is set for Fri., Mar. 7, 2014, …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Medical Sequencing Clinical Research Pilot Study Craniosynostosis Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Cystinosis Use of Cysteamine in the … Syndrome Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Multiple Congenital Anomaly Syndromes Whole …
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.
… Behavioral Phenotype of Muenke Syndrome. (FGFR3-Related Craniosynostosis) (Clinical Genetics and Dysporphology) …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… in humans. Based on his work in this area, a major form of craniosynostosis bears his name (Muenke syndrome). … Genomics …
The Genomics Landscape
In the January 7, 2021 edition of The Genomics Landscape, Dr. Eric Green details NHGRI's new agenda on enhancing genomics workforce diversity.
… various human diseases, including idiopathic scoliosis and craniosynostosis. Dr. Wilson also developed statistical …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
​
… Wilson A. A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a …
File
… Muenke M. Diagnostic evaluation of patients with various craniosynostosis syndromes, congenital heart diseases and …
File
… Two Variants in FGFR2 and FGFR3 in a Child with Syndromic Craniosynostosis. Eur J Med Genet. 2020. (Submitted). 19. …