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Frontiers in Genetics|February 24, 2026
Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDTYongfen Lyu, Wuhen Xu, Bin Xu, et al.
BMC Medical Genomics|November 7, 2025
Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGSYongchen Yang, Xiaolan Ren, Chaoran Xia, et al.
Frontiers in Neuroscience|August 22, 2022
Two novel heterozygous truncating variants in <i>NR4A2</i> identified in patients with neurodevelopmental disorder and brief literature reviewXiaozhen Song, Wuhen Xu, Man Xiao, et al.
Molecular Genetics & Genomic Medicine|January 7, 2020
A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2Jincai Feng, Xiaoping Lan, Jun Shen, et al.
Frontiers in Genetics|March 29, 2020
Spectrum of <i>RB1</i> Germline Mutations and Clinical Features in Unrelated Chinese Patients With RetinoblastomaXiaoping Lan, Wuhen Xu, Xiaojun Tang, et al.
Heliyon|March 4, 2024
Clinical characteristics and identification of novel <i>CNOT1</i> variants in three unrelated Chinese families with Vissers-Bodmer SyndromeXiaojun Tang, Xiaoping Lan, Xiaozhen Song, et al.
JAMA Network Open|March 25, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental DisordersXiaoping Lan, Xiaojun Tang, Wenhao Weng, et al.
Stem Cell Research|June 5, 2021
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individualXiaozhen Song, Jincai Feng, Xiaoping Lan, et al.
Frontiers in Pediatrics|December 5, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseasesMeiyan Liu, Xiaoang Sun, Longlong Lin, et al.
Molecular Genetics and Metabolism Reports|April 14, 2025
The precise molecular diagnosis of novel <i>GLDC</i> compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemiaFang Yuan, Xiaozhen Song, Rongrong Yin, et al.
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