Associated Papers
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
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 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
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
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 ASSOCIATED WITH ROD-CONE DYSTROPHY.
Zhang J et al.
Retinal Cases & Brief Reports, 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
Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.
Wei R et al.
Frontiers in Genetics, 2025
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.
Attardi E et al.
Hemasphere, 2024
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
Veltra D et al.
Children (basel, Switzerland), 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.
Kaufman O et al.
Jpgn Reports, 2024
Acute erythroid leukemia leading to the diagnosis of Schwachman-Diamond syndrome.
Strasser B et al.
Blood Research, 2024
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F et al.
The Journal of Molecular Diagnostics : Jmd, 2024
The role of genetic factors in pediatric myelodysplastic syndromes with different outcomes.
Li Y et al.
Bmc Pediatrics, 2024
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Lee H et al.
Annals of Laboratory Medicine, 2023
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Navasardyan LV et al.
Italian Journal of Pediatrics, 2023
[Allogeneic hematopoietic stem cell transplantation for MDS secondary to Shwachman-Diamond syndrome: a case report].
Zhou M et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.
Peng X et al.
The Journal of Molecular Diagnostics : Jmd, 2022
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
Wang NW et al.
Journal of Pediatric Hematology/oncology, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Sculco M et al.
European Journal of Cancer (oxford, England : 1990), 2022
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I et al.
Frontiers in Genetics, 2022
Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.
Wu D et al.
Plos One, 2022
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Khan AW et al.
Molecular Cytogenetics, 2021
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Zhou J et al.
Genes, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?
Nissen LHC et al.
Clinics and Research in Hepatology and Gastroenterology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.
Barış Z et al.
Journal of Pediatric Genetics, 2018
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM et al.
The Lancet. Oncology, 2018
Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.
Ong SY et al.
Leukemia Research Reports, 2018