Niu Li

发表

Exome sequencing of hepatitis B virus–associated hepatocellular carcinoma

Boping Zhou, L. Qin, Ze-Guang Han, 2012, Nature Genetics.

Cooperation of the NEIL3 and Fanconi anemia/BRCA pathways in interstrand crosslink repair

A. D’Andrea, Jian Wang, Niu Li, 2020, Nucleic acids research.

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.

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

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.

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene

Yiping Shen, Jian Wang, Niu Li, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Perioperative levels of total IgE correlate with outcomes of prolonged mechanical ventilation after cardiopulmonary bypass in pediatric patients

Jinfen Liu, Niu Li, Jie Chen, 2018, Pediatric Research.

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.

RNA interference against cancer/testis genes identifies dual specificity phosphatase 21 as a potential therapeutic target in human hepatocellular carcinoma

Ze-Guang Han, Qing Deng, Qun Wang, 2014, Hepatology.

Exploration of susceptible genes associated with Henoch-Schönlein purpura by whole exome sequencing.

X. Mo, Jian Wang, Niu Li, 2019, Advances in clinical and experimental medicine : official organ Wroclaw Medical University.

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Jun Shen, Niu Li, Xuyun Hu, 2019, European journal of medical genetics.

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.

PADI 4 Epigenetically Suppresses p 21 Transcription and Inhibits Cell Apoptosis in Fibroblast-like Synoviocytes from Rheumatoid Arthritis Patients

Niu Li, D. He, Shanshan Yu, 2017 .

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.

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1

Yiping Shen, Jian Wang, Niu Li, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Novel variant in the FGD1 gene causing Aarskog-Scott syndrome

Jian Wang, Niu Li, Zhigang Wang, 2017, Experimental and therapeutic medicine.

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.

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

Jian Wang, Niu Li, Yu Ding, 2022, BMC Endocrine Disorders.

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.

Diagnosis of Patients with Mucopolysaccharidosis Type II via RNA Sequencing.

Niu Li, Xiumin Wang, Xin Li, 2022, Clinica chimica acta; international journal of clinical chemistry.

Exome sequencing identifies a novel nonsense mutation of HOXD 13 in a Chinese family with synpolydactyly Short title : Novel nonsense mutation of HOXD 13

Jian Wang, Niu Li, Zhigang Wang, 2016 .

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

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

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

DNA damage and repair in the hematopoietic system

Niu Li, Jian Wang, Hongzhu Chen, 2022, Acta biochimica et biophysica Sinica.

Cutis laxa in a patient with 1p36 deletion syndrome

Jian Wang, Niu Li, R. Yao, 2018, The Journal of dermatology.

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.

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.

Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

Jian Wang, Niu Li, Xiumin Wang, 2017, Experimental and therapeutic medicine.

The association between sixteen genome‐wide association studies‐related allergic diseases loci and childhood allergic rhinitis in a Chinese Han population

Jun Shen, Niu Li, F. Jiang, 2018, Cytokine.

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.

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

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

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature

Jian Wang, Niu Li, Xiumin Wang, 2021, The Journal of clinical endocrinology and metabolism.

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.

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree

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

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 Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family

J. Chen, Lixia Ding, Jian Wang, 2018, Journal of pediatric hematology/oncology.

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

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

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly

Jian Wang, Bo Wang, Niu Li, 2017, Congenital anomalies.

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

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

Genetic factors in isolated and syndromic laryngeal cleft.

Niu Li, Youjin Li, X. Rui, 2019, Paediatric respiratory reviews.

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.

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS

Yiping Shen, Jian Wang, Niu Li, 2018, Fetal and pediatric pathology.

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia

Jian Wang, Niu Li, F. Jiang, 2020, Journal of diabetes investigation.

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.

Functional analysis of Fanconi anemia mutations in China.

A. D’Andrea, Lixia Ding, Jian Wang, 2018, Experimental hematology.

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.

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

Jian Wang, Niu Li, Xiumin Wang, 2020, BMC medical genetics.

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.

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

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

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

Xin Li, Niu Li, Xiumin Wang, 2023, Frontiers in Endocrinology.

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.

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.

PADI4 Epigenetically Suppresses p21 Transcription and Inhibits Cell Apoptosis in Fibroblast-like Synoviocytes from Rheumatoid Arthritis Patients

Niu Li, D. He, Shanshan Yu, 2017, International journal of biological sciences.

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.

Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene

Jian Wang, Niu Li, Xiumin Wang, 2015, Meta gene.

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.

Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report

Jian Wang, Han Lin, Niu Li, 2020, Experimental and therapeutic medicine.

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Yiping Shen, Jian Wang, O. Bodamer, 2019, American journal of medical genetics. Part A.

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.

Exome sequencing of hepatitis B virus–associated hepatocellular carcinoma

Boping Zhou, H. Xiao, Jian Huang, 2012, Nature Genetics.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

B. Feng, Xin Li, Niu Li, 2023, Orphanet Journal of Rare Diseases.

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.