Yongjia Yang

发表

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Liping Li, Chuang-Ye Li, Yongjia Yang, 2020, Frontiers in Genetics.

BMPR1B mutation causes Pierre Robin sequence

Yongjia Yang, H. Mei, Yimin Zhu, 2017, Oncotarget.

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

Saijun Liu, Liping Li, Yongjia Yang, 2019, Front. Pharmacol..

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

Zhengmao Hu, Q. Yin, Yongjia Yang, 2022, Frontiers in Genetics.

A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12

Kanxing Zhao, Fei-yue Fan, Yongjia Yang, 2006, Human Genetics.

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Yongjia Yang, Yu Zheng, H. Mei, 2021, Molecular genetics & genomic medicine.

SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis

Liping Li, Wangming Li, Yongjia Yang, 2019, Genetics in Medicine.

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

Yongjia Yang, Yu Zheng, Liu Zhao, 2022, Frontiers in Genetics.

Yongjia Yang, Yu Zheng, H. Mei, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

K. Gao, H. Deng, Zi-qiang Luo, 2013, Indian journal of biochemistry & biophysics.

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Liping Li, Yongjia Yang, Sha Zhao, 2019, BMC Medical Genetics.

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Zhengmao Hu, Shiting Xiang, Liping Li, 2019, Orphanet Journal of Rare Diseases.

SNAI2 mutation causes human piebaldism

Ming Tu, Liping Li, Yongjia Yang, 2014, American journal of medical genetics. Part A.

A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family

Liping Li, Yongjia Yang, Zhi-guo Xie, 2013, BioMed research international.

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

G. Lin, Yueqiu Tan, Yongjia Yang, 2018, Clinical genetics.

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

D. Liang, L. Tan, Lei Dai, 2018, Journal of Medical Genetics.

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum

Zhengmao Hu, Yongjia Yang, Yu Zheng, 2022, Human Genetics.

A family with radio‐ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè–Tsukahara syndrome?

Liping Li, Yongjia Yang, H. Mei, 2012, American journal of medical genetics. Part A.

Congenital middle radioulnar synostosis: Report of a probable subtype.

Yongjia Yang, Yimin Zhu, Fang Chen, 2021, Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association.

A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.

Jinsong Tang, W. Xu, Liping Li, 2011, Clinica chimica acta; international journal of clinical chemistry.

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit

Yongjia Yang, Yu Zheng, Xiulan Lu, 2021, Human mutation.

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E

Yongjia Yang, Yafei Deng, Yanping Chen, 2022, Journal of Clinical Immunology.

CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.

Liping Li, Yongjia Yang, Yu Zheng, 2018, Molecular medicine reports.

First report of HGD mutations in a Chinese with alkaptonuria.

Ling-Qian Wu, Yongjia Yang, Rui Zhao, 2013, Gene.

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Yongjia Yang, Tantai Zhao, Rui Zhao, 2015, TheScientificWorldJournal.

Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy

Yongjia Yang, Xu Yao, Rui Zhao, 2015, American journal of medical genetics. Part A.

Trisomy 3 mosaicism in a 5‐year‐old boy with multiple anomalies: A very rare case

Yongjia Yang, Xu Yao, Rui Zhao, 2016, American Journal of Medical Genetics. Part A.

A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer

Yongjia Yang, Hanchun Chen, D. Zheng, 2007, International Journal of Colorectal Disease.

Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues

Yongjia Yang, Yu Zheng, Weijian Chen, 2021, Frontiers in Genetics.

Blood Lead Levels in Children Aged 0–6 Years Old in Hunan Province, China from 2009–2013

Youjie Wang, C. Zuo, J. Qiu, 2015, PloS one.

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Lei Dai, Yongjia Yang, Yu Zheng, 2023, medRxiv.

Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.

Yongjia Yang, Zhi-guo Xie, Yimin Zhu, 2014, Genomics.

An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23.

Kanxing Zhao, Chen Zhao, Yongjia Yang, 2006, Molecular vision.