Tingting Yu

发表

The function of a heterozygous p53 mutation in a Li-Fraumeni syndrome patient

Yang Li, Ting Li, Yuejia Tang, 2020, PloS one.

Wilson’s Disease with Hepatogenous Diabetes: A Case Report

Tingting Yu, Shuwen Zhong, Z. Deng, 2021 .

Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex

Qi-hua Fu, Tingting Yu, Jian Wang, 2017, Clinical Neurology and Neurosurgery.

Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

Tingting Yu, Jian Wang, Niu Li, 2018, Gene.

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).

Weiwei Guo, Tingting Yu, Jian Wang, 2019, European journal of medical genetics.

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas

Qi-hua Fu, Tingting Yu, Jian Wang, 2018, Medicine.

Study of Novel RARS2 Variations Updating Awareness of Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.

Tingting Yu, Niu Li, Yufei Xu, 2022, Pediatric neurology.

Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype

Tingting Yu, Jian Wang, Niu Li, 2021, neurogenetics.

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

Tingting Yu, Jian Wang, Yufei Xu, 2018, BMC Medical Genomics.

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Yiping Shen, Tingting Yu, Jian Wang, 2019, Orphanet Journal of Rare Diseases.

Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.

Tingting Yu, Jian Wang, Niu Li, 2020, Gene.

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yiping Shen, Tingting Yu, Jian Wang, 2017, Journal of child neurology.

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay

Tingting Yu, Jian Wang, Niu Li, 2017, Medicine.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Yiping Shen, Tingting Yu, Jian Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

De Novo Mutation of KAT6B Gene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

Tingting Yu, Jian Wang, Niu Li, 2017, Fetal and pediatric pathology.

Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients.

Tingting Yu, Jian Wang, Niu Li, 2020, Clinical immunology.

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

Tingting Yu, Jian Wang, Niu Li, 2022, Frontiers in Genetics.

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

Yiping Shen, Tingting Yu, Jian Wang, 2019, Genes.

Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation

Tingting Yu, Jian Wang, Q. Ding, 2012, Pathology.

Psychomotor development and attention problems caused by a splicing variant of CNKSR2

Tingting Yu, Jian Wang, Niu Li, 2020, BMC medical genomics.

The Fas/Fas Ligand Death Receptor Pathway Contributes to Phenylalanine-Induced Apoptosis in Cortical Neurons

Peirong Yang, Tingting Yu, Zhongwei Lv, 2013, PloS one.

NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step.

Tingting Yu, Jing Chen, Niu Li, 2022, Cell reports.

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome

X. Mo, Tingting Yu, Yongguo Yu, 2014, Meta gene.

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure

Yiping Shen, Tingting Yu, Jian Wang, 2018, Molecular and Cellular Endocrinology.

Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations

Tingting Yu, Q. Ding, J. Dai, 2012, Pathology.

Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

Yiping Shen, X. Mo, Tingting Yu, 2013, Cellular Physiology and Biochemistry.

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

Yiping Shen, Tingting Yu, Jian Wang, 2016, Molecular medicine reports.

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Tingting Yu, X. Xi, Q. Ding, 2013, Thrombosis research.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot

Tingting Yu, Jian Wang, Huiwen Chen, 2011, Pathology.

Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients

Tingting Yu, Lili Jing, Weihao Shao, 2021, Biomolecules.

Evaluation of copy number variant detection from panel‐based next‐generation sequencing data

Yiping Shen, Jian Wang, Tingting Yu, 2018, Molecular genetics & genomic medicine.

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

Yiping Shen, Tingting Yu, Jian Wang, 2016, Experimental and therapeutic medicine.

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

Tingting Yu, Jian Wang, Jingyan Tang, 2017, BMC Medical Genetics.

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Yiping Shen, Tingting Yu, Jian Wang, 2018, Orphanet Journal of Rare Diseases.

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Y. Wang, Yiping Shen, Tingting Yu, 2017, Genetics in Medicine.

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Yiping Shen, Cheng Zhang, Tingting Yu, 2017, Molecular Cytogenetics.

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Yiping Shen, Tingting Yu, Jian Wang, 2018, Clinica chimica acta; international journal of clinical chemistry.

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

Yiping Shen, Tingting Yu, Jian Wang, 2016, Molecular medicine reports.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Yiping Shen, Yu Ding, Tingting Yu, 2017, International journal of molecular sciences.

Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy

Tingting Yu, Jian Wang, Niu Li, 2020, Journal of Molecular Neuroscience.

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Tingting Yu, Jian Wang, Yongguo Yu, 2014, Molecular medicine reports.

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.

Yiping Shen, Tingting Yu, Jian Wang, 2019, European journal of endocrinology.

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Tingting Yu, Jian Wang, Yongguo Yu, 2013, PloS one.

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

Tingting Yu, Jian Wang, Niu Li, 2021, BMC medical genomics.

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Lixia Ding, Tingting Yu, Jian Wang, 2021, Molecular genetics & genomic medicine.

Novel GLDC variants causing nonketotic hyperglycinemia in Chinese patients

Tingting Yu, Jian Wang, Niu Li, 2022, LaboratoriumsMedizin.

Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.

Tingting Yu, Jian Wang, R. Yao, 2021, Asian Pacific journal of allergy and immunology.

Case report: Autoimmune encephalitis with multiple auto-antibodies with reversible splenial lesion syndrome and bilateral ovarian teratoma

Tingting Yu, Beibei Zhu, Jiale He, 2023, Frontiers in Immunology.

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Yiping Shen, Tingting Yu, Jian Wang, 2017, Molecular Cytogenetics.

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

Yiping Shen, J. Gusella, V. Rosen, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease

Tingting Yu, Jian Wang, Siqi Wu, 2022, Nucleic acids research.

Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome

Tingting Yu, Jian Wang, Niu Li, 2023, neurogenetics.

Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction.

Tingting Yu, Jian Wang, K. Sun, 2010, Biochemical and biophysical research communications.

Defective Joint Development and Maintenance in GDF6‐Related Multiple Synostoses Syndrome

Tingting Yu, Jian Wang, Niu Li, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Tingting Yu, Jian Wang, Niu Li, 2020, Molecular genetics & genomic medicine.

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

Tingting Yu, Jian Wang, Yufei Xu, 2018, BMC medical genomics.

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Yiping Shen, Tingting Yu, Jian Wang, 2018, Genetics in Medicine.

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort

Tingting Yu, Jian Wang, Niu Li, 2021, Frontiers in Genetics.

Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.

Tingting Yu, Jian Wang, Niu Li, 2021, Translational pediatrics.

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients

Tingting Yu, Jian Wang, Niu Li, 2022, Genes.

A Novel Compound Heterozygous Mutation in the DNAH11 Gene Found in Neonatal Twins With Primary Ciliary Dyskinesis

Tingting Yu, F. Bei, S. Dong, 2022, Frontiers in Genetics.

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

Yiping Shen, Tingting Yu, Jian Wang, 2017, American journal of medical genetics. Part A.

Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia

Tingting Yu, Jian Wang, Yongguo Yu, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析

Tingting Yu, Niu Li, R. Yao, 2023, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

F. Alkuraya, M. Bekheirnia, Tingting Yu, 2023, EBioMedicine.

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review

Tingting Yu, Yu Ding, G. Chang, 2024, Medicine.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Tingting Yu, Yu Ding, G. Chang, 2024, Orphanet journal of rare diseases.