• A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome
• A naturally occurring canine model of syndromic congenital microphthalmia
• A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: <em>RASA3</em>
• A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features
• Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman-Diamond syndrome
• Allogeneic hematopoietic stem cell transplantation for MDS secondary to Shwachman-Diamond syndrome: a case report
• An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report
• Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells
• Azacitidine combined with venetoclax alleviates AML-MR with TP53 mutation in SDS: a case report and literature review
• Bone Marrow Failure
• Case Report of 11 Years of Severe Malabsorption, Muscular Atrophy, Seizures, and Immunodeficiency Resolved After Proximal Intercessory Prayer
• Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome
• Characteristics of Craniofacial Morphology and Occlusion in Shwachman-Diamond Syndrome: A Case Report of a Japanese Sibling Pair
• Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication
• Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review
• Convergent somatic evolution commences in utero in a germline ribosomopathy
• Counteracting the Common Shwachman-Diamond Syndrome-Causing <em>SBDS</em> c.258+2T&gt;C Mutation by RNA Therapeutics and Base/Prime Editing
• Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)
• Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study
• Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses
• Dissecting thrombus-directed chemotaxis and random movement in neutrophil near-thrombus motion in flow chambers
• Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit
• Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
• Emerging genetic technologies informing personalized medicine in SDS and other inherited bone marrow failure disorders
• Exocrine Pancreatic Insufficiency in Children - Challenges in Management
• From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development
• Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene
• Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel
• Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years
• Hepatic phenotypes of EFL1-related Shwachman-Diamond syndrome in a biopsy-validated study
• Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia
• Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist
• Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
• Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing
• Integrated proteogenomic analysis for inherited bone marrow failure syndrome
• Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth
• Lee S, Shin CH, Lee J, et al. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. 2021;138(21):2117-2128
• 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
• Leukemia
• Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish
• M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression
• Neutropenia
• Oh rats! Intracellular rod-like inclusions in an adolescent with Shwachman-Diamond syndrome
• Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest
• Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?
• Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression
• Retraction: Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice
• SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3
• SBDS^R126T rescues survival of <em>sbds</em> ^<em>-/-</em> zebrafish in a dose-dependent manner independently of Tp53
• Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance
• Shwachman-Diamond Syndrome
• Shwachman-Diamond syndrome associated with rod-cone dystrophy
• Shwachman-Diamond syndrome combined with acute leukemia of ambiguous lineage: a case report
• Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy
• Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
• Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit
• Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature
• Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
• The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
• Unique Pharmacokinetics for Oral Tacrolimus Administration After Allogeneic Hematopoietic Stem-Cell Transplantation for AML With Shwachman-Diamond Syndrome
• Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome