Associated Papers
Generation of two induced pluripotent stem cell lines (FDCHi011-A and FDCHi016-A) from different patients with NBIA5 syndrome carrying WDR45 m.700C > T and m.888G > A mutation.
Yin T et al.
Stem Cell Research, 2025
Identifying inherited metabolic disorders in children: the role of elevated creatine kinase.
Yoldaş Çelik M et al.
Bmc Pediatrics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Characterization of a human induced pluripotent stem cell line (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB mutation.
Yin T et al.
Stem Cell Research, 2024
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Liu X et al.
Ginekologia Polska, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Civit A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Gunduz M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Iranome: A catalog of genomic variations in the Iranian population.
Fattahi Z et al.
Human Mutation, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
Bijarnia-Mahay S et al.
Jimd Reports, 2015
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G et al.
Human Mutation, 2010
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
Coffee EM et al.
Journal of Inherited Metabolic Disease, 2010
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2008
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Esposito G et al.
Human Mutation, 2004