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S. Hankey results 2 · Newest (Page 1/1, per page 25)
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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer
Sarah Hull; M. Mero; W. Hankey; K. Lee; L. S. Sullivan; R. Ayyagari; M. D. Benson; L. Haer-Wigman; R. B. Hufnagel; H. M. J. Hussain; K. Kämpjärvi; P. A. Sieving; M. Wang; G. Wang; C. Zeitz; R. A. Lewis; R. Chen; K. C. Worley
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
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Digitalization and Sustainability: A Call for a Digital Green DealNARA Subscribed
Environmental Science & Policy · 2023 · Vol. 147 · Elsevier
T. Santarius; L. Dencik; T. Diez; H. Ferreboeuf; P. Jankowski; S. Hankey; A. Hilbeck; L.M. Hilty; M. Höjer; D. Kleine; S. Lange; J. Pohl; L. Reisch; M. Ryghaug; T. Schwanen; P. Staab
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