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Genome‐wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma

International journal of cancer, 2017-08, Vol.141 (4), p.816-828

2017

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Multi-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma

Nature communications, 2020-07, Vol.11 (1), p.3675-3675, Article 3675

2020

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Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC medical genomics, 2024-09, Vol.17 (1), p.233-7, Article 233

2024

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Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria

BMC medical genomics, 2023-12, Vol.16 (1), p.333-333, Article 333

2023

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Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

BMC medical genomics, 2024-04, Vol.17 (1), p.89-89, Article 89

2024

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Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

BMC medical genomics, 2023-10, Vol.16 (1), p.1-271, Article 271

2023

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Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome

Frontiers in genetics, 2021-11, Vol.12, p.765433-765433

2021

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Early prediction of growth patterns after pediatric kidney transplantation based on height-related single-nucleotide polymorphisms

Chinese medical journal, 2024-05, Vol.137 (10), p.1199-1206

2024

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Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

Stem cell research, 2021-12, Vol.57, p.102606-102606, Article 102606

2021

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Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy

Frontiers in pediatrics, 2022-11, Vol.10

2022

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A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

BMC medical genomics, 2022-10, Vol.15 (1), p.1-220, Article 220

2022

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Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

Biology (Basel, Switzerland), 2023-03, Vol.12 (4), p.505

2023

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Dynamics of binding ability prediction between spike protein and human ACE2 reveals the adaptive strategy of SARS-CoV-2 in humans

Scientific reports, 2021-02, Vol.11 (1), p.3187-3187, Article 3187

2021

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A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

Chinese medical journal, 2022-11, Vol.135 (21), p.2631-2633

2022

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Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Frontiers in genetics, 2022-12, Vol.13, p.1057293-1057293

2022

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Association of pre-surgery to pre-radiotherapy lymphocyte counts ratio with disease-free survival in rectal cancer patients receiving neoadjuvant concurrent chemoradiotherapy

World journal of surgical oncology, 2019-11, Vol.17 (1), p.199-7, Article 199

2019

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High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing

Frontiers in genetics, 2021-06, Vol.12, p.643546-643546

2021

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Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing

Frontiers in pharmacology, 2022-02, Vol.12, p.790832-790832

2022

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Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression

Scientific reports, 2017-07, Vol.7 (1), p.6613-9, Article 6613

2017

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Perrault syndrome: Clinical report and retrospective analysis

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1445-n/a

2020

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Multiple Distinctive Demyelinating Lesions Caused by Eosinophilic Granulomatosis With Polyangiitis: Case Report and Literature Review

Frontiers in neurology, 2019-03, Vol.10, p.213

2019

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COVID-19 Resulting in Potential Hearing Damage of Rodents

Chinese Medicine and Natural Products, 2022-03, Vol.2 (1), p.e28-e31

2022

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Identification and Validation of Ikaros ( IKZF1 ) as a Cancer Driver Gene for Marek's Disease Virus-Induced Lymphomas

Microorganisms (Basel), 2022-02, Vol.10 (2), p.401

2022

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Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

Molecular genetics & genomic medicine, 2021-08, Vol.9 (8), p.e1734-n/a

2021

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An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease

Npj genomic medicine, 2021-07, Vol.6 (1), p.1-9, Article 57

2021

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Genome‐wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma

Multi-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome

Early prediction of growth patterns after pediatric kidney transplantation based on height-related single-nucleotide polymorphisms

Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

Dynamics of binding ability prediction between spike protein and human ACE2 reveals the adaptive strategy of SARS-CoV-2 in humans

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Association of pre-surgery to pre-radiotherapy lymphocyte counts ratio with disease-free survival in rectal cancer patients receiving neoadjuvant concurrent chemoradiotherapy

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing

Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing

Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression

Perrault syndrome: Clinical report and retrospective analysis

Multiple Distinctive Demyelinating Lesions Caused by Eosinophilic Granulomatosis With Polyangiitis: Case Report and Literature Review

COVID-19 Resulting in Potential Hearing Damage of Rodents

Identification and Validation of Ikaros ( IKZF1 ) as a Cancer Driver Gene for Marek's Disease Virus-Induced Lymphomas

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease

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