Journal of Medical Genetics: 62 (1)

Editorial

Commentary:
Authors’ response to the commentary by Kivela et al on Hany et al (2024)
(8 October, 2024)
Alan J. Mighell, Chris Inglehearn
Short report:
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
(3 December, 2024)
Simone Gana, Fulvio D’Abrusco, Roberta Nicotra, Chiara Ghiberti, Guido Catalano, Elisa Rognone, Anna Pichiecchio, Sabrina Signorini, Enza Maria Valente
Original research:
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
(4 November, 2024)
Mo-Ying Wang, Feng-Juan Gao, Yu-Qiao Ju, Lin-Ying Guo, Cong Duan, Qing Chang, Ting Zhang, Ge-Zhi Xu, Hui Du, Yuan Zong, Xin Huang

Original research:
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
(5 November, 2024)
Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, Maism Molhem, Emmanuelle Ranza, Stylianos E Antonarakis, Xavier Blanc, Kristin Herman, William S Benko, Stephanie Libzon, Liat Ben Sira, Aviva Fattal-Valevski, Vadim Dolgin, Ohad S Birk, Amit Kessel, Peter Bross, Celeste Weiss, Abdussalam Azem, Ayelet Zerem
Original research: National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (28 November, 2024)
Davide Mei, Simona Balestrini, Elena Parrini, Antonio Gambardella, Grazia Annesi, Valentina De Giorgis, Simone Gana, Maria Teresa Bassi, Claudio Zucca, Maurizio Elia, Luigi Vetri, Barbara Castellotti, Francesca Ragona, Mario Mastrangelo, Francesco Pisani, Giuseppe d'Orsi, Massimo Carella, Dario Pruna, Sabrina Giglio, Carla Marini, Elisabetta Cesaroni, Antonella Riva, Marcello Scala, Laura Licchetta, Raffaella Minardi, Ilaria Contaldo, Maria Luigia Gambardella, Alberto Cossu, Jacopo Proietti, Gaetano Cantalupo, LICE Collaborative Group, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Laura Tassi, Renzo Guerrini

Short report: Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes (13 November, 2024)
Vahid Akbari, Sarah Dada, Yaoqing Shen, Katherine Dixon, Duha Hejla, Andrew Galbraith, Sanaa Choufani, Rosanna Weksberg, Cornelius F Boerkoel, Laura Stewart, William T Gibson, Steven J M Jones

Original research: Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre (15 November, 2024)
Kayla Horowitz, Nellie H Fotopoulos, Alana J Mistry, Justin Simo, Miranda Medeiros, Isabela D Bucco, Mia Ginsberg, Emily Dwosh, Roberta La Piana, Guy A Rouleau, Allison A Dilliott, Sali M K Farhan

Charis Eng: an appreciation (31 December, 2024) Free
William D Foulkes, Shirley V Hodgson, Eamonn R Maher, Joanne Ngeow, Willie Reardon, Richard Trembath