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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … of Human Malformation syndromes in Diverse populations (Williams Syndrome, … 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). (University of Sri Lanka and NHGRI, NIH). …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… of pre-emptive genomics in employee wellness Marc Williams (Geisinger) 9:50-10:10 a.m. Discussion Moderator: … Rowley (NHGRI) 1:40 - 2:00 p.m. Discussion Moderator: Marc Williams (Geisinger) 2:00 - 2:20 p.m. Break 2:20 - 3:00 p.m. …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, … Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Characterizing genetic variants for clinical … P, Marazita ML, Ordovas JM, Pato CN, Spitz MR, Wagener D, Williams M, Junkins HA, Harlan WR, Ramos EM, Haines J. The …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… Theater and broadcast live for online viewing. Chris Williams, Ph.D. , STEM Education Specialist at NMAAHC, will … advance rapid diagnosis of COVID-19-related inflammatory syndrome in children Upcoming Videocasts Genomics and Health …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… that is associated with melanoma and Waardenburg syndrome type 4. His team also helped to identify the …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision Medicine Research Into Practice * Dr. David R. Williams , Florence Sprague Norman and Laura Smart Norman …
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… 2020 Aug 12. Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. Management of Secondary Genomic … Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer . Genet Med . …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) … VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic …