Fan Yang

发表

OC-035 Elastography for the diagnosis of severity of fibrosis in chronic liver disease: a diagnostic test accuracy meta-analysis

S. Lewitzky, Joanne M. Meyer, J. Singer, 2010, Gut.

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Tomasz Stokowy, Torunn Fiskerstrand, Fan Yang, 2017, American journal of human genetics.

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family

Xu Ma, Siquan Zhu, Fan Yang, 2012, Molecular vision.

Supplemental Data Mutations in MAPKBP 1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Helge, Filhol, Sailer, 2017 .

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

Fan Yang, C. Chen, Huacheng Zheng, 2022, Frontiers in Pediatrics.

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability

Fan Yang, Jiamei Zhang, Yiran Xu, 2022, neurogenetics.

Erratum to: Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients

Jianchun Wang, Fan Yang, Xian-hou Yuan, 2013, NeuroMolecular Medicine.

A R54L Mutation of CRYAA Associated with Autosomal Dominant Nuclear Cataracts in a Chinese Family

Xu Ma, Siquan Zhu, Fan Yang, 2013, Current eye research.

A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome

Fan Yang, Lianlian Yang, 2020, Molecular genetics & genomic medicine.

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

Fan Yang, Huifang Yan, Yan Lu, 2022, Molecular genetics & genomic medicine.

Phenotypic expansion of KCNH1 ‐associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub‐regional locations

Fan Yang, Xiao-mei Shu, Ren Li, 2022, CNS neuroscience & therapeutics.

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report

Fan Yang, R. Luo, Zuozhen Yang, 2022, BMC Pediatrics.

Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients

Jianchun Wang, Fan Yang, Xian-hou Yuan, 2013, Neuromolecular medicine.

Correction of RNA splicing defect in β654-thalassemia mice using CRISPR/Cas9 gene-editing technology

Guijun Zhao, F. Zeng, Fan Yang, 2021, Haematologica.

Human cytomegalovirus escapes a naturally occurring neutralizing antibody by incorporating it into assembling virions.

J. Szustakowski, E. Oakeley, K. Manley, 2011, Cell host & microbe.

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

J. Szustakowski, B. Linghu, N. Nirmala, 2014, Arthritis & rheumatology.

The Study of Alternative Splicing Events in Human Induced Pluripotent Stem Cells From a Down's Syndrome Patient

Yaqiong Zhang, F. Zeng, Fan Yang, 2021, Frontiers in Cell and Developmental Biology.

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

J. Szustakowski, B. Linghu, E. Oakeley, 2013, Journal of the American Society of Nephrology : JASN.

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome

B. Linghu, E. Oakeley, M. Beibel, 2017, Front. Immunol..

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report

H. Yin, Yupei Du, Fan Yang, 2023, Molecular genetics & genomic medicine.

PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family

Juan Wang, Ze Yang, F. Zeng, 2020, The International journal of neuroscience.

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review

Fan Yang, J. Gan, Zuozhen Yang, 2021, Journal of Human Genetics.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

J. Szustakowski, J. Sahel, T. Bouwmeester, 2015, Nature Communications.

Reduced expression of the Aα subunit of protein phosphatase 2A in human gliomas in the absence of mutations in the Aα and Aβ subunit genes

Mitsutoshi Nakamura, P. Kleihues, H. Ohgaki, 2001 .

Novel KCNC2 variant associated with developmental and epileptic encephalopathy

Fan Yang, Qiong Wu, Xue-yan Liu, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Novel SNX13 Frameshift Variant in an Individual with Developmental Delay

Fan Yang, Haifeng Li, Jialu Xu, 2021, Cytogenetic and Genome Research.

Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings

Huaqin Sun, Fan Yang, Hongqian Liu, 2023, Clinical genetics.

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

J. Szustakowski, B. Linghu, N. Nirmala, 2014, Arthritis & rheumatology.