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

Genetics in Medicine 2026

View at publisher
Authors: David Curtis, Xiaonan Zhao, Nichole M. Owen, Mahshid S. Azamian, Seema R. Lalani, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal P. Chaudhari
+28 more Shelagh Joss, Müge Güçsavaş‐Çalıkoğlu, Yael Shiloh‐Malawsky, Yezmin Perilla‐Young, Olivia Thompson, Neena L. Champaigne, Luigi Chiriatti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Francesca Clementina Radio, Christelle Moufawad El Achkar, Rozalia Valentine, Koen L.I. van Gassen, Marie‐José H. van den Boogaard, Tony Roscioli, Hannes Syryn, Martine Cools, Elfride De Baere, Gabriela M. Repetto, Hannah Massey, Yasemin Alanay, Özlem Akgün Doğan, Sarah Josephi-Taylor, Adam Bournazos, Sandra T. Cooper, Víctor Faùndes, Daryl A. Scott
DOI: 10.1016/j.gim.2026.102580
Cited by: 3
References: 43

Fields of Study & Subjects

Genomics and Rare Diseases Hereditary Neurological Disorders Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
6
Pages
102580–102580
Publication date
15 April 2026
Language
EN