Associated Papers
Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Marszałek-Kruk BA et al.
Journal of Clinical 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
Comparison of Familial and Sporadic Pancreatic Cancer: Clinicopathological and Genomic Features.
Miura Y et al.
Annals of Surgical Oncology, 2026
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.
Vanden Eynde N et al.
Prenatal Diagnosis, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.
Schwarz L et al.
The Journal of Pediatrics, 2025
CHEK2 Germline Variants in Early-Onset and Familial Myeloproliferative Neoplasms.
Borsani O et al.
American Journal of Hematology, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Beyond Cystic Fibrosis: Recognising Shwachman-Diamond Syndrome in the Respiratory Clinic.
Yang F et al.
Respirology Case Reports, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Integrated Genomic and Transcriptomic Profiling of Isolated Trisomies in AML Reveals Cell Cycle Dysregulation and Therapeutic Vulnerabilities.
Maués JHDS et al.
Journal of Cellular and Molecular Medicine, 2025
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
van Opijnen MP et al.
Npj Genomic Medicine, 2025
Analyzing long-read CRISPR experiments with CRISPRLungo.
Hwang GH et al.
Biorxiv : the Preprint Server for Biology, 2025
Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series.
Bezzerri V et al.
Nature Communications, 2025
Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor.
Mellor-Heineke S et al.
Haematologica, 2025
Clonal hematopoiesis in cancer predisposition syndromes.
Yoshida K
International Journal of Hematology, 2025
Inborn errors of immunity-associated gene variants in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Sakamoto K et al.
International Journal of Hematology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report.
Guo HJ
World Journal of Hepatology, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 2025
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Oyarbide U et al.
The Journal of Clinical Investigation, 2025
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.
Zhu L et al.
Prenatal Diagnosis, 2025
Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.
Minelli A et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.
Wei R et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.
Chang C et al.
Frontiers in Pediatrics, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Mitotic abnormalities and spindle assembly checkpoint inactivation in a cell model of Shwachman-Diamond syndrome with mutations in the Shwachman-Bodian-Diamond syndrome gene, 258+2T > C.
Sera Y et al.
Drug Discoveries & Therapeutics, 2024
LASSO-derived nomogram for early identification of pediatric monogenic lupus.
Zhang TY et al.
World Journal of Pediatrics : Wjp, 2024