mutation

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet, Susanna Balcells

Journal of Medical Genetics Mar 2024, jmg-2024-109898; DOI: 10.1136/jmg-2024-109898
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

Journal of Medical Genetics Apr 2024, 61 (4) 363-368; DOI: 10.1136/jmg-2023-109151
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Ling Xu, Yaru Wang, Wenqing Wang, Rui Zhang, Dandan Zhao, Yan Yun, Fuchen Liu, Yuying Zhao, Chuanzhu Yan, Pengfei Lin

Journal of Medical Genetics Apr 2024, 61 (4) 325-331; DOI: 10.1136/jmg-2023-109485
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
Emma R Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George J Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans

Journal of Medical Genetics Apr 2024, 61 (4) 385-391; DOI: 10.1136/jmg-2023-109671
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
Sipeng Zhang, Jie Yang, Dandan Ji, Xinyi Meng, Chonggui Zhu, Gang Zheng, Joseph Glessner, Hui-Qi Qu, Yuechen Cui, Yichuan Liu, Wei Wang, Xiumei Li, Hao Zhang, Zhanjie Xiu, Yan Sun, Ling Sun, Jie Li, Hakon Hakonarson, Jin Li, Qianghua Xia

Journal of Medical Genetics Mar 2024, jmg-2023-109385; DOI: 10.1136/jmg-2023-109385
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan

Journal of Medical Genetics Mar 2024, 61 (3) 212-223; DOI: 10.1136/jmg-2023-109420
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, Jose Campos Parada, Shipra Bhatia, Jeffrey Joseph, Simon Holden, Trine E Prescott, Pierre Bitoun, Edwin P Kirk, Ruth Newbury-Ecob, Katherine Lachlan, Juan Bernar, Veronica van Heyningen, David R FitzPatrick, Alison Meynert

Journal of Medical Genetics Mar 2024, 61 (3) 250-261; DOI: 10.1136/jmg-2023-109181
Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder
Bruna Pereira Marquezini, Mariana Moysés-Oliveira, Anna Kloster, Lais Cunha, Tais Bassani Deconto, Amanda Cristina Mosini, Pedro Guerreiro, Mayara Paschalidis, Luana Nayara Gallego Adami, Monica Levy Andersen, Sergio Tufik

Journal of Medical Genetics Feb 2024, jmg-2023-109508; DOI: 10.1136/jmg-2023-109508
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Rui Guo, Huan Wu, Xiaoyu Zhu, Guanxiong Wang, Kaiqin Hu, Kuokuo Li, Hao Geng, Chuan Xu, Chenwan Zu, Yang Gao, Dongdong Tang, Yunxia Cao, Xiaojin He

Journal of Medical Genetics Feb 2024, jmg-2023-109766; DOI: 10.1136/jmg-2023-109766
ZNF142 mutation causes sex-dependent neurologic disorder
Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, Rotem Kadir, Daniel Halperin, Max Drabkin, Yuval Yogev, Sarit Aharoni, Noam Hadar, Hagit Cohen, Ekaterina Eremenko, Yonatan Perez, Ohad S Birk

Journal of Medical Genetics Jan 2024, jmg-2023-109447; DOI: 10.1136/jmg-2023-109447

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