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5 in total

1. X-CNV: genome-wide prediction of the pathogenicity of copy number variations.

Authors: Li Zhang; Jingru Shi; Jian Ouyang; Riquan Zhang; Yiran Tao; Dongsheng Yuan; Chengkai Lv; Ruiyuan Wang; Baitang Ning; Ruth Roberts; Weida Tong; Zhichao Liu; Tieliu Shi
Journal: Genome Med Date: 2021-08-18 Impact factor: 11.117

2. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.

Authors: Meng Ren; Jingru Shi; Jinmeng Jia; Yongli Guo; Xin Ni; Tieliu Shi
Journal: Orphanet J Rare Dis Date: 2020-04-29 Impact factor: 4.123

3. Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Authors: Linya Ma; Jianjian Zhu; Jing Wang; Yazhou Huang; Jibo Zhang; Chao Wang; Yuan Zhou; Dan Peng
Journal: Front Genet Date: 2021-10-11 Impact factor: 4.599

Review 4. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Authors: Lisa Gianesello; Dorella Del Prete; Franca Anglani; Lorenzo A Calò
Journal: Hum Genet Date: 2020-08-29 Impact factor: 4.132

5. A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings.

Authors: Yeran Yang; Jiwei Chen; Hong Qin; Yaqiong Jin; Li Zhang; Shen Yang; Huanmin Wang; Libing Fu; Enyu Hong; Yongbo Yu; Jie Lu; Yan Chang; Xin Ni; Min Xu; Tieliu Shi; Yongli Guo
Journal: Front Genet Date: 2021-07-23 Impact factor: 4.599

5 in total