Xiaomin Yu

发表

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.

Sam Darko, Mirjam van der Burg, Daniel C Douek, 2014, The Journal of allergy and clinical immunology.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

J. Hughes, J. McElwee, D. Reich, 2014, The Journal of allergy and clinical immunology.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, J. McElwee, S. Holland, 2014 .

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

J. Mullikin, E. Remmers, D. Kastner, 2016, Proceedings of the National Academy of Sciences.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Junying Yuan, Wanjin Li, Jinqiao Sun, 2019, Nature.

Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production

S. Ozen, R. Topaloğlu, Huanming Yang, 2021, Science advances.

TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

J. Burnham, D. Kastner, S. Rosenzweig, 2021, The Journal of allergy and clinical immunology.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Andrew J. Oler, Ryan J. Carlson, J. Hughes, 2016, Nature Genetics.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

J. Mullikin, Yuan Zhang, D. Kastner, 2015, Nature Genetics.

Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease

Jun Wang, Qing Zhou, Qiao Ye, 2022, Annals of the Rheumatic Diseases.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Yuan Zhang, Wanjin Li, Jinqiao Sun, 2019, Nature.

Next‐generation small RNA sequencing for microRNAs profiling in the honey bee Apis mellifera

Songnian Hu, F. Hu, Dongliang Yu, 2010, Insect molecular biology.

NLRC4 gain-of-function variant is identified in a patient with systemic lupus erythematosus.

Xiaoya Hu, Yan Zhou, Qing Zhou, 2023, Clinical immunology.

Pathogenic Gene Spectrum and Clinical Implication in Chinese Patients with Lupus Nephritis

X. Chen, Yang Zhang, Jianhua Mao, 2023, Clinical journal of the American Society of Nephrology : CJASN.

Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese

Songnian Hu, Duen-mei Wang, Hongbin Lin, 2009, The Pharmacogenomics Journal.

Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design.

Jun Wang, Qing Zhou, Jiahui Zhang, 2023, Immunity.

Immune deficiencies, infection, and systemic immune disordersAutosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, D. Reich, S. Holland, 2014 .

Genetic features and kidney morphological changes in women with X-linked Alport syndrome

D. Liang, C. Zheng, Jiahui Zhang, 2023, Journal of Medical Genetics.