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Frontiers in Genetics|July 16, 2026
Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenitaTao Xie, Hanying Nong, Jiali Jiang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 1, 2016
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]Bobo Xie, Jingsi Luo, Yaqin Lei, et al.
Molecular Cytogenetics|February 5, 2015
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)Rongyu Chen, Chuan Li, Bobo Xie, et al.
Molecular Medicine Reports|April 3, 2020
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophyBobo Xie, Xin Fan, Yaqin Lei, et al.
Arquivos Brasileiros De Cardiologia|August 23, 2018
Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal UltrasoundShiyu Luo, Dahua Meng, Qifei Li, et al.
Frontiers in Genetics|January 4, 2024
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature reviewXianda Wei, Xu Zhou, BoBo Xie, et al.
Molecular Cytogenetics|June 2, 2016
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic featuresBobo Xie, Xin Fan, Yaqin Lei, et al.
BMC Medical Genetics|June 15, 2019
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsQi Yang, Sheng Yi, Mengting Li, et al.
Molecular Medicine Reports|October 27, 2018
Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case reportBobo Xie, Jingsi Luo, Yaqin Lei, et al.
Frontiers in Genetics|April 7, 2023
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndromeYunting Lin, Xiaohong Chen, Bobo Xie, et al.
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