Table of contents

Diagnostics

• Original research: Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients (16 August, 2023)

  Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lianshu Han, Yongguo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
• Original research: Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases (16 August, 2023)

  Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, Frederic Tran Mau-them, Ange-Line Bruel, Antonio Vitobello, Hana Safraou, Arthur Sorlin, Sophie Nambot, Julian Delanne, Aurore Garde, Estelle Colin, Sébastien Moutton, Julien Thevenon, Nolwenn Jean-Marçais, Marjolaine Willems, David Geneviève, Lucile Pinson, Laurence Perrin, Fanny Laffargue, James Lespinasse, Elodie Lacaze, Arnaud Molin, Marion Gerard, Laetitia Lambert, Charlotte Benigni, Olivier Patat, Orphanomix Physician's Group, Valentin Bourgeois, Charlotte Poe, Martin Chevarin, Victor Couturier, Philippine Garret, Christophe Philippe, Yannis Duffourd, Laurence Faivre, Christel Thauvin-Robinet
• Original research: Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders (26 July, 2023)

  Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-Fenzy, Stéphane Bézieau, Benjamin Cogné
• Short report:

  Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines

  (9 August, 2023)

  Eungjun Yoon, Jong Kwon Lee, Taek Kyu Park, Sung-A Chang, June Huh, Jong-Won Kim, Duk-Kyung Kim, Ja-Hyun Jang