Xun Xu

发表

TUBB4A de novo mutations cause isolated hypomyelination

H. Hakonarson, Yiran Guo, A. Vanderver, 2014, Neurology.

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

Yingrui Li, Wei Wu, J. Long, 2015, Scientific Reports.

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

H. Hakonarson, Yiran Guo, H. Pickett, 2014, Blood.

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

E. Bertini, Hui Jiang, E. Arbustini, 2016, The Journal of clinical investigation.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2016, JIMD reports.

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Hui Shen, Xiangding Chen, L. Tan, 2015, Functional & Integrative Genomics.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

H. Hakonarson, Yiran Guo, N. Clarke, 2015, Neuromuscular Disorders.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

J. Glessner, H. Hakonarson, Yiran Guo, 2015, Human Genomics.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2015, Human Genomics.

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

Jianguo Zhang, Jianfeng Zhou, Lei Zhao, 2016, Translational research : the journal of laboratory and clinical medicine.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2015, PloS one.

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

A. Masotti, B. Dallapiccola, P. Uva, 2015, American journal of human genetics.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

H. Hakonarson, Yiran Guo, Sijie He, 2015, Clinical & experimental ophthalmology.

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

J. Glessner, H. Hakonarson, Yiran Guo, 2015, Human genomics.

Lessons from whole-exome sequencing in MODYX families.

T. Hansen, O. Pedersen, A. Gjesing, 2014, Diabetes research and clinical practice.

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Joseph T. Glessner, H. Hakonarson, Yiran Guo, 2015, Human Genomics.

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

A. Cesarani, Wangsheng Li, S. Duga, 2014, European Journal of Human Genetics.