Associated Papers
Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.
Sugisawa C et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Ahn J et al.
International Journal of Molecular Sciences, 2025
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Levy M et al.
Prenatal Diagnosis, 2025
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.
Ricci V et al.
Frontiers in Endocrinology, 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.
Wang Q et al.
Molecular Diagnosis & Therapy, 2024
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.
Park J et al.
Medicine, 2024
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Zhang HY et al.
Annals of Laboratory Medicine, 2024
Correlation between genetic alterations and clinicopathological features of papillary thyroid carcinomas.
Shang S et al.
The Journal of International Medical Research, 2024
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case report.
Liu Y et al.
Medicine, 2024
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants.
Watanabe D et al.
Nagoya Journal of Medical Science, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
[Pathogenic TSHR variants in children with thyroid dysgenesis].
Shreder EV et al.
Problemy Endokrinologii, 2023
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L et al.
Endocrine, 2023
A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang.
Huang J et al.
Pharmacogenomics and Personalized Medicine, 2023
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Zhang W et al.
Genetic Testing and Molecular Biomarkers, 2022
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
Yatsenko SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S et al.
Journal of Endocrinological Investigation, 2022
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Zhang CR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Kim JE et al.
Experimental & Molecular Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I et al.
Frontiers in Endocrinology, 2021
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
Tan LC et al.
Frontiers in Oncology, 2021
Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.
Xue P et al.
International Journal of General Medicine, 2021
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.
Long W et al.
Frontiers in Endocrinology, 2021