Publications by authors named "J H Fuerth"

Article Synopsis
  • Full understanding of autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS), highlighted by the latest Autism Speaks MSSNG resource that includes data from over 11,000 individuals.
  • The study found ASD-associated rare genetic variants in about 14% of individuals with ASD, examining data from MSSNG and the Simons Simplex Collection, which suggests similar prevalence in both datasets.
  • The identified variants were mostly nuclear (98%) with a small fraction being mitochondrial, and the research aims to help explore genetic links to ASD traits and identify causes for the 85% of ASD cases that currently lack identified genetic causes.
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The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution.

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A 17-year-old boy with hemophilia A and strong inhibitors for factor VIII suffered a myocardial infarction on the sixth day of treatment with large amounts of human factor IX complex (Konyne). The patient also had had diabetes for one year, for which he was receiving insulin injections, but there was no evidence of vascular disease. Thromboembolic complications that occur after the administration of factor IX concentrates have been reported in patients with hemophilia B or liver disease, but these complications are extremely rare in patients with classic hemophilia.

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A bone marrow transplantation from an HLA-identical, MLC nonreactive paternal donor has been performed in a patient with acute lymphoblastic leukemia resistant to drug treatment. Prompt engraftment was documented; however, the patient died of interstitial pneumonitis due to cytomegalovirus 65 days after transplant. Clinical manifestation of graft-versus-host reaction was mild.

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