Associated Papers
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Ferrarotti I et al.
Pulmonology, 2025
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
Hernández Pérez JM et al.
Gene, 2025
Mendelian causes of early-onset emphysema: a review of the current literature.
Karabatic A et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2025
Alpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease.
Reed TJ et al.
Bmj Case Reports, 2025
Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Silva Rodriguez M et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.
Rueda-Zarazua B et al.
International Journal of Molecular Sciences, 2025
Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-Analysis and Clinical Practice Guideline.
Hernandez P et al.
Chest, 2025
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Brzozowska N et al.
Nature Genetics, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye.
Karadoğan D et al.
Bmc Pulmonary Medicine, 2024
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR et al.
Nature Genetics, 2024
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
The value of alpha-1 antitrypsin functional testing and genotyping for the diagnosis of the MS variant of alpha-1 antitrypsin deficiency-associated panniculitis.
Perez S et al.
Annales De Dermatologie Et De Venereologie, 2024
Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Sarrou S et al.
International Journal of Molecular Sciences, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT).
Mróz J et al.
Genes, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024