Associated Papers
Semi-automated genomic newborn screening highlights complexities in reporting.
Chowdhury A et al.
Npj Genomic Medicine, 2026
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.
Ibrahim FE et al.
Biomedicines, 2025
A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.
Koyutourk B et al.
Modern Rheumatology Case Reports, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population.
Akcan MB et al.
Annals of Human Genetics, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
Benn P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.
Azizinejad F et al.
Gene, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.
Hotakainen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Expanding the clinical phenotype and variant spectrum associated with RFX7.
Sisroe T et al.
American Journal of Medical Genetics. Part A, 2024
Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.
Çıkı K et al.
The Turkish Journal of Pediatrics, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.
Lee NK et al.
Biomedicines, 2024
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Yılmaz B et al.
European Journal of Pediatrics, 2024
Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.
Latif M et al.
Journal of Clinical Medicine, 2024
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
Altıntaş M et al.
Clinical Neurology and Neurosurgery, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny P et al.
Journal of Inherited Metabolic Disease, 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
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.
Yaralı O et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 0