Jianfeng Xiao

Associate Professor

  • 878 Citations
  • 15 h-Index
19992018
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Fingerprint Dive into the research topics where Jianfeng Xiao is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Dystonia Medicine & Life Sciences
Dystonic Disorders Medicine & Life Sciences
Mutation Medicine & Life Sciences
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Genes Medicine & Life Sciences
Exons Medicine & Life Sciences
Exome Medicine & Life Sciences
Pedigree Medicine & Life Sciences

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Research Output 1999 2018

3 Citations (Scopus)

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

C4RCD Research Group, Feb 15 2018, In : Human molecular genetics. 27, 4, p. 691-705 15 p., ddx435.

Research output: Contribution to journalArticle

Missense Mutation
Transcription Factors
DNA-Directed RNA Polymerases
Exome
Dysarthria

Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice

Xiao, J., Khan, M. M., Vemula, S., Tian, J. & Ledoux, M., Sep 1 2018, In : FEBS Letters. 592, 18, p. 3101-3110 10 p.

Research output: Contribution to journalArticle

Exons
DNA
Cells
Fibroblasts
DNA Damage
2 Citations (Scopus)
Medical Genetics
Missense Mutation
Names
Molecular Biology
corrigendum
3 Citations (Scopus)

DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice

Khan, M. M., Xiao, J., Patel, D. & Ledoux, M., Feb 1 2018, In : Neurobiology of Aging. 62, p. 180-190 11 p.

Research output: Contribution to journalArticle

DNA Damage
Zinc Fingers
Phenotype
DNA Repair
Protein Deficiency
6 Citations (Scopus)

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

Cen, Z., Jiang, Z., Chen, Y., Zheng, X., Xie, F., Yang, X., Lu, X., Ouyang, Z., Wu, H., Chen, S., Yin, H., Qiu, X., Wang, S., Ding, M., Tang, Y., Yu, F., Li, C., Wang, T., Ishiura, H., Tsuji, S. & 4 others, Jiao, C., Liu, C., Xiao, J. & Luo, W., Jan 1 2018, In : Brain. 141, 8, p. 2280-2288 9 p.

Research output: Contribution to journalArticle

Pedigree
Microsatellite Repeats
Genes
Polymerase Chain Reaction
Spinocerebellar Ataxias