Rongrong Wang

发表

Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2021, Frontiers in Genetics.

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

Dingquan Yang, Q. Guo, Xue Zhang, 2022, Molecular genetics & genomic medicine.

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

Jia Huang, Weiyue Gu, Rongrong Wang, 2018, Science China Life Sciences.

Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome.

Rongrong Wang, Yang Sun, Yun-jiao Yang, 2019, Rheumatology.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Shuyang Zhang, Xue Zhang, Wei Wu, 2018, Journal of Translational Medicine.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Novel Homozygous TULP1 and RPE65 Variants Underlies Recessive Retinitis Pigmentosa

Xue Zhang, Muhammad Umair, Rongrong Wang, 2020 .

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2021, Journal of clinical laboratory analysis.

Adult-onset deficiency of adenosine deaminase 2—a case report and literature review

Bingqing Zhang, Xuejun Zeng, Xue Zhang, 2021, Clinical Rheumatology.

Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS

L. Cui, Qing Liu, Xue Zhang, 2016, Neurology.

Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

Qing Liu, Rongrong Wang, L. Cui, 2016, Neurobiology of Aging.

Autoantibodies in NLRP3-associated autoinflammatory disease: a case report.

Li Zhang, Rongrong Wang, Yang Sun, 2020, Clinical and experimental rheumatology.

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

Xue Zhang, Rongrong Wang, Nuo Si, 2019, Frontiers of Medicine.

Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis

L. Cui, Qing Liu, Rongrong Wang, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family

Xue Zhang, W. Ahmad, Muhammad Umair, 2020, Frontiers in Pediatrics.

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

Jia Huang, Rongrong Wang, Hong-yan Liu, 2019, Chinese medical journal.

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

Xue Zhang, W. Ahmad, Rongrong Wang, 2017, Human Genome Variation.

GATA2 mutation with recurrent hemophagocytic lymphohistiocytosis and panniculitis: a case report.

Xuejun Zeng, Xue Zhang, N. Xu, 2021, Rheumatology.

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2022, Frontiers of Medicine.

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Xue Zhang, W. Ahmad, Rongrong Wang, 2019, Molecular genetics & genomic medicine.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Muhammad Umair, Amjad Khan, Xue Zhang, 2019, BMC Medical Genetics.

Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2021, Science China Life Sciences.

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

Xue Zhang, Rongrong Wang, X. Habulieti, 2020, Frontiers in Pediatrics.

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Xue Zhang, W. Ahmad, Rongrong Wang, 2018, Genetic testing and molecular biomarkers.

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

Jia Huang, Weiyue Gu, Rongrong Wang, 2018, Science China Life Sciences.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Xue Zhang, Rongrong Wang, Amjad Khan, 2017, Genetic testing and molecular biomarkers.

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Shuyang Zhang, Xue Zhang, Wei Wu, 2019, Science China Life Sciences.

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

Xue Zhang, Jia Huang, Amjad Khan, 2019, Front. Genet..

A heterozygous missense SCN5A mutation associated with early repolarization syndrome.

J. Pu, Rongrong Wang, Yinhui Zhang, 2013, International journal of molecular medicine.

Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing

Rongrong Wang, Amjad Khan, Shirui Han, 2016, Journal of Human Genetics.

Neurological manifestations of autoinflammatory diseases in Chinese adult patients.

Wen Zhang, Rongrong Wang, Yang Sun, 2020, Seminars in Arthritis & Rheumatism.

Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2023, Pigment cell & melanoma research.

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes

G. Zaman, H. Houlden, Xue Zhang, 2023, The journal of gene medicine.

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2022, Frontiers of Medicine.

Two novel gene mutations cause different expressions of epidermolysis bullosa in Chinese patients

Xue Zhang, Rongrong Wang, Jia-Wei Liu, 2020, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.

Songbin Fu, J. Bai, Xuelong Zhang, 2023, Pigment cell & melanoma research.

A 16-year-old Boy with Arthritis, Rash, and Hemoptysis: Beyond “Undifferentiated Connective Tissue Disease”?

Rongrong Wang, Mengtao Li, Xiaofeng Zeng, 2022, Rheumatology and immunology research.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.