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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.
Nucleic Acids Research|October 24, 2019
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variationHong Sun, Yangfan Guo, Xiaoping Lan, et al.
Frontiers in Genetics|March 29, 2020
Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With RetinoblastomaXiaoping Lan, Wuhen Xu, Xiaojun Tang, et al.
Frontiers in Veterinary Science|March 6, 2023
Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkeyRuo Wu, Bing Bai, Feng Li, et al.
Heliyon|March 4, 2024
Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer SyndromeXiaojun Tang, Xiaoping Lan, Xiaozhen Song, et al.
Molecular Genetics & Genomic Medicine|September 28, 2022
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disordersKunfang Yang, Longlong Lin, Fang Yuan, et al.
Frontiers in Neuroscience|August 22, 2022
Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature reviewXiaozhen Song, Wuhen Xu, Man Xiao, 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.
Reproductive Biomedicine Online|June 11, 2014
Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failureYuqin Ye, Xiaoping Lan, Jin Cong, et al.
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