Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth.

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.

Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.

Beyond Cystic Fibrosis: Recognising Shwachman-Diamond Syndrome in the Respiratory Clinic.

Germline Predisposition to Pediatric Lymphoid Malignancies: Genetic Tumor Syndromes Identified in a Single-Center Study.

Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.

Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series.

A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.

Efficacy of an advanced hybrid closed-loop system in a patient with type 1 diabetes and intellectual disability: a case report.

Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.

Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.

Rare diseases: ethical challenges in the era of digital health.

Shwachman-Diamond Syndrome Patient Progressing From Chronic Myelomonocytic Leukemia to Acute Myeloid Leukemia Within Two Months.

Vanishing pancreas: CT and MRI features and imaging diagnostic strategies.

Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report.

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.

Beyond the bench: Revitalizing ataluren development for rare genetic disorders.

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations.

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.

Inflammatory pathways and the bone marrow microenvironment in inherited bone marrow failure syndromes.

Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.

Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor.

Lymphoid malignancies in patients with Shwachman-Diamond syndrome.

Constitutive systemic inflammation in Shwachman-Diamond Syndrome.

Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.

Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.

Unraveling a Case of Fatty Pancreas in a Child.

Self-beneficial transactional social dynamics for cooperation in Shwachman-Diamond syndrome: a mixed-subject analysis using computational pragmatics.

Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.

Outcomes of allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome: a systematic review and meta-analysis.

Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.

Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.

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.

Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.

Shwachman-Diamond syndrome: A case report.

[Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review].

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report.

Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish.

A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3.

SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3.

From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development.

Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman-Diamond syndrome.

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.

Emerging genetic technologies informing personalized medicine in Shwachman-Diamond syndrome and other inherited BMF disorders.

Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest.

Case Report of 11 Years of Severe Malabsorption, Muscular Atrophy, Seizures, and Immunodeficiency Resolved After Proximal Intercessory Prayer.

A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome.

Dissecting thrombus-directed chemotaxis and random movement in neutrophil near-thrombus motion in flow chambers.

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.

Integrated proteogenomic analysis for inherited bone marrow failure syndrome.

Hepatic phenotypes of EFL1-related Shwachman-Diamond syndrome in a biopsy-validated study.

A naturally occurring canine model of syndromic congenital microphthalmia.

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years.

Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Azacitidine combined with venetoclax alleviates AML-MR with TP53 mutation in SDS: a case report and literature review.

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.

Characteristics of Craniofacial Morphology and Occlusion in Shwachman-Diamond Syndrome: A Case Report of a Japanese Sibling Pair.

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.

Oh rats! Intracellular rod-like inclusions in an adolescent with Shwachman-Diamond syndrome.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.

[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].

Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

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.

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.

Unique Pharmacokinetics for Oral Tacrolimus Administration After Allogeneic Hematopoietic Stem-Cell Transplantation for Acute Myeloid Leukemia With Shwachman-Diamond Syndrome.

SBDSR126T rescues survival of sbds -/- zebrafish in a dose-dependent manner independently of Tp53.

M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.

Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.

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.

The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.

[Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study].

Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist.

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.

An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report.

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.

Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

[Allogeneic hematopoietic stem cell transplantation for MDS secondary to Shwachman-Diamond syndrome: a case report].

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.

Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.

[Shwachman-Diamond syndrome combined with acute leukemia of ambiguous lineage: a case report].

Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome.

Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit.

Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype.

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review.

Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.

Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party.

Inherited bone marrow failure in the pediatric patient.

Genetics and genomics of bone marrow failure syndrome.

Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.

Expression of Concern: Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice.

Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

eIF6 rebinding dynamically couples ribosome maturation and translation.

A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

[Haploidentical stem cell transplantation for acute myeloid leukemia associated with adult-onset Shwachman-Diamond syndrome].

Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.

SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.

Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge.

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.

Fludarabine-based Reduced Intensity Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in a Pediatric Patient With Bone Marrow Failure Syndrome Type 3.

Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice.

Impaired myelopoiesis in congenital neutropenia: insights into clonal and malignant hematopoiesis.

Mechanisms of somatic transformation in inherited bone marrow failure syndromes.

Congenital neutropenia: disease models guiding new treatment strategies.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Translational research for bone marrow failure patients.

Hematologic complications with age in Shwachman-Diamond syndrome.

Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.

Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.

Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.

Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?

Somatic genetic rescue of a germline ribosome assembly defect.

Arhgef2 regulates mitotic spindle orientation in hematopoietic stem cells and is essential for productive hematopoiesis.

[Shwachman-Diamond syndrome and myelodysplastic syndrome with genetic predisposition to myeloid malignancies: two cases report and literature review].

Shwachman‒Diamond syndrome with initial features mimicking common variable immunodeficiency.

Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman-Bodian-Diamond syndrome.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

[Predisposition and progression of myelodysplastic syndromes].

Growth hormone improves short stature in children with Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.

Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Endocrine dysfunction in children with Shwachman-Diamond syndrome.

Author Correction: Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

Cellular Traffic Jam and Disease Due to Mutations in SRP54.

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.

Repolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome.

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.

Somatic development in children with Shwachman-Diamond syndrome.

Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.

Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy.

Clonal hematopoiesis in the inherited bone marrow failure syndromes.

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

[Clinical features, diagnosis, and treatment of Chinese children with Shwachman-Diamond syndrome].

[Clinical features and gene mutations of children with Shwachman-Diamond syndrome and malignant myeloid transformation].

Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome.

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.

Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.

Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia.

Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT).

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.

mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment.

Reduction of Extramedullary Complications in Patients With Acute Myeloid Leukemia/Myelodysplastic Syndrome Treated With Azacitidine.

Successful Umbilical Cord Blood Transplantation With Reduced-intensity Conditioning for Acute Myeloid Leukemia in a Child With Shwachman-Diamond Syndrome.

Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review.

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.

Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.

On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology.

Discovery and Preliminary Characterization of Translational Modulators that Impair the Binding of eIF6 to 60S Ribosomal Subunits.

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.

A Drug Repurposing and Protein-Protein Interaction Network Study of Ribosomopathies Using Yeast as a Model System.

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.

Monitoring and treatment of MDS in genetically susceptible persons.

Pancreatic Malnutrition in Children.

Unusual combination of Shwachman-Diamond syndrome and porphyria.

A child with haemophilia A and Shwachman-Diamond syndrome with literature review of combined haematologic diseases in children.

IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome.

Cirrhosis complicating Shwachman-Diamond syndrome: A case report.

TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.

Hereditary myeloid malignancies.

Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Mechanism of completion of peptidyltransferase centre assembly in eukaryotes.

Bruising as the first sign of exocrine pancreatic insufficiency in infancy.

Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.