Associated Papers
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.
Rafat M et al.
International Journal of Laboratory Hematology, 2026
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Rare genetic variants and severe COVID-19 in previously healthy admixed Latin American adults.
Rocha GD et al.
Scientific Reports, 2025
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Hemolytic anemia due to pyruvate kinase deficiency coexistent with the alpha thalassemia trait and chronic myeloid leukemia.
Shrestha N et al.
Hematology, Transfusion and Cell Therapy, 2024
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.
Pande S et al.
Molecular Genetics and Genomics : Mgg, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K et al.
Blood Cells, Molecules & Diseases, 2024
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V et al.
British Journal of Haematology, 2024
Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.
Wang Y et al.
Heliyon, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Agarwal AM et al.
European Journal of Haematology, 2023
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Updates and advances in pyruvate kinase deficiency.
Luke N et al.
Trends in Molecular Medicine, 2023
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study.
Shan J et al.
Hepatology (baltimore, Md.), 2023
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S et al.
Frontiers in Genome Editing, 2023
Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.
Wu H et al.
Frontiers in Genetics, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
Fattizzo B et al.
Journal of Blood Medicine, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.
Fañanas-Baquero S et al.
Molecular Therapy. Methods & Clinical Development, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
Sivashangar A et al.
Journal of Medical Case Reports, 2021
Improving the laboratory diagnosis of pyruvate kinase deficiency.
Laas C et al.
British Journal of Haematology, 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
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.
Dos Santos CMA et al.
Frontiers in Genetics, 2021
Inherited microcytic anemias.
Cappellini MD et al.
Hematology. American Society of Hematology. Education Program, 2020
Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
Canu G et al.
Molecular Biology Reports, 2020
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 2020
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H et al.
Haematologica, 2020
Prevalence of pyruvate kinase deficiency: A systematic literature review.
Secrest MH et al.
European Journal of Haematology, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genetic variation influencing hemoglobin levels and risk for anemia across populations.
Barrera-Reyes PK et al.
Annals of the New York Academy of Sciences, 2019
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A et al.
International Journal of Laboratory Hematology, 2019
How we manage patients with pyruvate kinase deficiency.
Grace RF et al.
British Journal of Haematology, 2019
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2019
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 2019