Table of contents

Genotype-phenotype correlations

• Original research:

  Genotype and phenotype correlation of PHACTR1-related neurological disorders

  (25 January, 2024)

  Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Yang
• Original research:

  GRN mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort

  (16 January, 2024)

  Caiyan Liu, Liling Dong, Jie Wang, Jie Li, Xinying Huang, Dan Lei, Chenhui Mao, Shanshan Chu, Longze Sha, Qi Xu, Bin Peng, Liying Cui, Jing Gao
• Short report:

  De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops

  (25 January, 2024)

  Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, Xiao Han, Martina HA Ruiterkamp-Versteeg, Nicole de Leeuw, Ulrich A Schatz, Moneef Shoukier, Esther Rieger-Fackeldey, Javier U Ortiz, Sjoerd G van Duinen, Willemijn M Klein, Ruben S G M Witlox, Richard H Finnell, Gijs W E Santen, Yunping Lei, Manon Suerink
• Original research: Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (10 February, 2024)

  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