ReviewHematology/oncology clinics of North America2009
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
Review in Hematology/oncology clinics of North America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 177 citations in OpenAlex.
- Diagnosis and management of neutropenia in adults: Expert guidance.British journal of haematology · 2026Review
- Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations.Molecular genetics & genomic medicine · 2026Article
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor.Haematologica · 2025Article
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.The Journal of clinical endocrinology and metabolism · 2025Article
- Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.Case reports in genetics · 2025Article
- Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.Frontiers in pediatrics · 2025Article
- 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.Children (Basel, Switzerland) · 2024Review
- Dissecting thrombus-directed chemotaxis and random movement in neutrophil near-thrombus motion in flow chambers.BMC biology · 2024Article
- Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2024Article
- Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Haematologica · 2023Article
- A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.Biomedicines · 2023Article
- Review
- A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations.Global medical genetics · 2022Review
- Article
- Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.International journal of hematology · 2022Article
- Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge.JPGN reports · 2022Article
- Translational research for bone marrow failure patients.Experimental hematology · 2022Review
- Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome.Frontiers in pediatrics · 2022Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.