Therapeutics and Clinical Trials

Content

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  Ethical challenges for a new generation of early-phase pediatric gene therapy trials

  • Alexander A. Iyer
  • Dimah Saade
  • Annette Rid

  Review Article7 Jul 2021 Genetics in Medicine
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  Treatment of ARS deficiencies with specific amino acids

  • Gautam Kok
  • Laura Tseng
  • Sabine A. Fuchs

  Brief Communication30 Jun 2021 Genetics in Medicine
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  One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

  • George A. Diaz
  • Simon A. Jones
  • Catherine Ortemann-Renon

  ArticleOpen Access19 Apr 2021 Genetics in Medicine

• Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

  • Julie E. Hoover-Fong
  • Adekemi Y. Alade
  • Michael B. Bober

  ArticleOpen Access18 May 2021 Genetics in Medicine
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  Severity modeling of propionic acidemia using clinical and laboratory biomarkers

  • Oleg A. Shchelochkov
  • Irini Manoli
  • Charles P. Venditti

  ArticleOpen Access18 May 2021 Genetics in Medicine

• Expanding evidence leads to new pharmacogenomics payer coverage

  • Philip E. Empey
  • Victoria M. Pratt
  • Teri E. Klein

  Comment24 Feb 2021 Genetics in Medicine
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  Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network

  • Geoffrey S. Ginsburg
  • Larisa H. Cavallari
  • the IGNITE PTN

  Article29 Mar 2021 Genetics in Medicine
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  A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management

  • Cameron D. Thomas
  • Hari K. Parvataneni
  • Larisa H. Cavallari

  Article8 Jan 2021 Genetics in Medicine

• Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics

  • Dianbo Liu
  • Karen L. Olson
  • Kenneth D. Mandl

  Brief Communication8 Jan 2021 Genetics in Medicine
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  A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?

  • Ye Zhu
  • James P. Moriarty
  • Bijan J. Borah

  ArticleOpen Access12 Oct 2020 Genetics in Medicine
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  A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

  • W. Reid Thompson
  • Brittany Hornby
  • Hilary J. Vernon

  ArticleOpen Access20 Oct 2020 Genetics in Medicine

• Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Kim L. McBride
  • Susan A. Berry
  • ACMG Therapeutics Committee

  ACMG Practice Resource3 Aug 2020 Genetics in Medicine
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  Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

  • Daisy Rymen
  • Martijn Lindhout
  • Saskia B. Wortmann

  Article21 Aug 2020 Genetics in Medicine

• Developing interactions with industry in rare diseases: lessons learned and continuing challenges

  • Susan A. Berry
  • Curtis R. Coughlin II
  • Cynthia LeMons

  Special ArticleOpen Access24 Jul 2019 Genetics in Medicine
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  Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

  • Peter Witters
  • Shawn Tahata
  • Eva Morava

  Article27 Feb 2020 Genetics in Medicine