New genotype-phenotype correlations and management recommendations for individuals with RERE variants

David Curtis(Baylor College of Medicine), Daryl A. Scott(Baylor College of Medicine), Sandra T. Cooper(Children's Medical Research Institute), Özlem Akgün Doğan(Acıbadem University), Christelle Moufawad El Achkar(Harvard University), Mahshid S. Azamian(Baylor College of Medicine), Rozalia Valentine(Boston Children's Hospital), Seema R. Lalani(Baylor College of Medicine), Luigi Chiriatti(Bambino Gesù Children's Hospital), Marie‐José H. van den Boogaard(University Medical Center Utrecht), Hannes Syryn(Ghent University Hospital), Alanna Strong(Children's Hospital of Philadelphia), Neena L. Champaigne(Harvard University Press), Koen L.I. van Gassen(University Medical Center Utrecht), Adam Bournazos(The University of Sydney), Gabriela M. Repetto(Universidad del Desarrollo), Betsy Schmalz(Nationwide Children's Hospital), Yezmin Perilla‐Young(University of North Carolina at Chapel Hill), Francesca Clementina Radio(Bambino Gesù Children's Hospital), Manuela Priolo(Azienda di Rilievo Nazionale ed Alta Specializzazione), Müge Güçsavaş‐Çalıkoğlu(University of North Carolina at Chapel Hill), Víctor Faùndes(University of Manchester), Yael Shiloh‐Malawsky(University of North Carolina at Chapel Hill), Elfride De Baere(HOGENT University of Applied Sciences and Arts), Marco Ferilli(Bambino Gesù Children's Hospital), Bimal P. Chaudhari(Nationwide Children's Hospital), Hannah Massey(Western General Hospital), Xiaonan Zhao(Baylor Genetics), Joseph Shen(Children's Hospital Central California), Martine Cools(Ghent University Hospital), Yasemin Alanay(Kent Hastanesi), Kierstin Keller(Children's Hospital of Philadelphia), Colette DeFilippo(University of California Davis Medical Center), Olivia Thompson(Medical University of South Carolina), Marco Tartaglia(Bambino Gesù Children's Hospital), Tony Roscioli(New South Wales Department of Health), Nichole M. Owen(Baylor Genetics), Sarah Josephi-Taylor(Sydney Children’s Hospitals Network), Himanshu Goel(Hunter Genetics), Shelagh Joss(Oulu University Hospital)
Genetics in Medicine
April 15, 2026
Cited by 3


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