Research & Literature

Nutritional status in children with Shwachman-diamond syndrome.

Pichler J, Meyer R, Köglmeier J, et al.

Pancreas 2015; (44(4)):590-5 doi:10.1097/MPA.0000000000000291.

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

Weis F, Giudice E, Churcher M, et al.

Nature structural & molecular biology 2015; (22(11)):914-9 doi:10.1038/nsmb.3112.

Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

Journal of multidisciplinary healthcare 2016; (9()):425-33 doi:10.2147/JMDH.S113898.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, et al.

The Journal of clinical investigation 2017; (127(11)):4090-4103.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Xia J, Miller CA, Baty J, et al.

Blood 2018; (131(4)):408-416 doi:10.1182/blood-2017-08-801985.

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.

Bucciol G, Cassiman D, Roskams T, et al.

Orphanet journal of rare diseases 2018; (13(1)):69 doi:10.1186/s13023-018-0818-2.

Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.

Nelson AS, Myers KC

Hematology/oncology clinics of North America 2018; (32(4)):687-700 doi:10.1016/j.hoc.2018.04.006.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.

Bezzerri V, Cipolli M

Molecular diagnosis & therapy 2019; (23(2)):281-290 doi:10.1007/s40291-018-0368-2.

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.

Gijsbers A, Montagut DC, Méndez-Godoy A, et al.

International journal of molecular sciences 2018; (19(12)) doi:10.3390/ijms19124012.

Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.

Bezzerri V, Vella A, Gennaro GD, et al.

Pediatric blood & cancer 2019; (66(5)):e27597 doi:10.1002/pbc.27597.

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.

Cipolli M, Tridello G, Micheletto A, et al.

BMJ open 2019; (9(1)):e022617 doi:10.1136/bmjopen-2018-022617.

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.

Klimiankou M, Uenalan M, Kandabarau S, et al.

Frontiers in immunology 2019; (10()):116 doi:10.3389/fimmu.2019.00116.

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

Tan S, Kermasson L, Hoslin A, et al.

Blood 2019; (134(3)):277-290 doi:10.1182/blood.2018893404.

Cirrhosis complicating Shwachman-Diamond syndrome: A case report.

Camacho SM, McLoughlin L, Nowicki MJ

World journal of clinical cases 2019; (7(12)):1456-1460 doi:10.12998/wjcc.v7.i12.1456.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

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

Myers KC, Furutani E, Weller E, et al.

The Lancet. Haematology 2020; (7(3)):e238-e246 doi:10.1016/S2352-3026(19)30206-6.

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

Cesaro S, Pegoraro A, Sainati L, et al.

The Journal of pediatrics 2020; (219()):196-201.e1 doi:10.1016/j.jpeds.2019.12.041.

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

Yamada M, Uehara T, Suzuki H, et al.

American journal of medical genetics. Part A 2020; (182(7)):1631-1636 doi:10.1002/ajmg.a.61598.

Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome.

Myers K, Hebert K, Antin J, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2020; (26(8)):1446-1451 doi:10.1016/j.bbmt.2020.04.029.

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

Bezzerri V, Api M, Allegri M, et al.

International journal of molecular sciences 2020; (21(13)) doi:10.3390/ijms21134672.

Endocrine dysfunction in children with Shwachman-Diamond syndrome.

Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, et al.

Endokrynologia Polska 2021; (72(3)):211-216 doi:10.5603/EP.a2021.0014.

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

Kennedy AL, Myers KC, Bowman J, et al.

Nature communications 2021; (12(1)):1334 doi:10.1038/s41467-021-21588-4.

Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life.

Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H

International journal of environmental research and public health 2021; (18(9)) doi:10.3390/ijerph18094993.

Somatic genetic rescue of a germline ribosome assembly defect.

Tan S, Kermasson L, Hilcenko C, et al.

Nature communications 2021; (12(1)):5044 doi:10.1038/s41467-021-24999-5.

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E, Liu S, Galvin A, et al.

Blood advances 2022; (6(1)):297-306 doi:10.1182/bloodadvances.2021005539.

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

Khan AW, Kennedy A, Furutani E, et al.

Molecular cytogenetics 2021; (14(1)):54 doi:10.1186/s13039-021-00575-w.

Congenital neutropenia: disease models guiding new treatment strategies.

Touw IP

Current opinion in hematology 2022; (29(1)):27-33 doi:10.1097/MOH.0000000000000696.

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

Thompson AS, Giri N, Gianferante DM, et al.

Pediatric research 2022; (92(6)):1671-1680 doi:10.1038/s41390-022-02009-8.

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

Cesaro S, Donadieu J, Cipolli M, et al.

Transplantation and cellular therapy 2022; (28(10)):637-649 doi:10.1016/j.jtct.2022.07.010.

Congenital etiologies of exocrine pancreatic insufficiency.

Scheers I, Berardis S

Frontiers in pediatrics 2022; (10()):909925 doi:10.3389/fped.2022.909925.

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

Peng X, Dong X, Wang Y, et al.

The Journal of molecular diagnostics : JMD 2022; (24(12)):1240-1253 doi:10.1016/j.jmoldx.2022.09.002.

Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.

Wu D, Zhang L, Qiang Y, Wang K

PloS one 2022; (17(12)):e0269029 doi:10.1371/journal.pone.0269029.

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

Reilly CR, Shimamura A

Blood 2023; (141(13)):1513-1523 doi:10.1182/blood.2022017739.

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

Biswas A, Peng YF, Kaushik V, Origanti S

Methods (San Diego, Calif.) 2023; (211()):68-72 doi:10.1016/j.ymeth.2023.02.004.

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

Kawashima N, Oyarbide U, Cipolli M, et al.

Haematologica 2023; (108(10)):2594-2605 doi:10.3324/haematol.2023.282949.

Association between conditioning intensity and height growth after allogeneic hematopoietic stem cell transplantation in children.

Uemura S, Hasegawa D, Kishimoto K, et al.

Cancer medicine 2023; (12(16)):17018-17027 doi:10.1002/cam4.6336.

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

Li J, Bledsoe JR

Seminars in diagnostic pathology 2023; (40(6)):429-442 doi:10.1053/j.semdp.2023.06.006.

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Machado HE, Øbro NF, Williams N, et al.

Nature communications 2023; (14(1)):5092 doi:10.1038/s41467-023-40896-5.

Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

Sankararaman S, Schindler T

Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

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

Hudda Z, Myers KC

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):141-148 doi:10.1182/hematology.2023000471.

A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.

Tutus D, Niemitz M, Plener PL, et al.

Orphanet journal of rare diseases 2024; (19(1)):27 doi:10.1186/s13023-024-03029-9.

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

Durmaz D, Aslanger AD, Yavas Abali Z, et al.

Journal of pediatric hematology/oncology 2024; (46(3)):e214-e219 doi:10.1097/MPH.0000000000002839.

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

Pegoraro A, Bezzerri V, Tridello G, et al.

Cancers 2024; (16(7)) doi:10.3390/cancers16071420.

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, Marinakis NM, Kotsios I, et al.

Children (Basel, Switzerland) 2024; (11(6)) doi:10.3390/children11060705.

A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.

Pearce E, Majid A, Brown T, et al.

SSM. Qualitative research in health 2024; (6()) doi:10.1016/j.ssmqr.2024.100486.

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

Ma C, Huang X, Chen Y, et al.

Cytotherapy 2025; (27(4)):465-474 doi:10.1016/j.jcyt.2024.12.004.

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

Schwarz L, Cheng L, Steltz S, et al.

The Journal of pediatrics 2025; (287()):114780 doi:10.1016/j.jpeds.2025.114780.

"I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty.

Hoffmann TM, Friedrich B, Lewis C

Journal of genetic counseling 2025; (34(6)):e70149 doi:10.1002/jgc4.70149.

Liver disease in Shwachman-Diamond syndrome: A comprehensive characterization across the age spectrum.

Koo J, Schwarz D, Haney M, et al.

Journal of pediatric gastroenterology and nutrition 2026; (82(6)):1357-1365 doi:10.1002/jpn3.70430.

Liver stiffness in patients with Shwachman-Diamond syndrome.

Sabharwal S, Grover A, Mitchell P, et al.

JPGN reports 2026; (7(2)):200-206 doi:10.1002/jpr3.70138.

Beyond neutropenia: Immunological evaluation of patients with Shwachman-Diamond syndrome.

Gloude NJ, Brundige K, Loveless S, et al.

British journal of haematology 2026; (209(1)):180-188 doi:10.1111/bjh.70553.

Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.

Koo J, Gerstle M, Cheng L, et al.

Pediatric blood & cancer 2026; (73(11)):e70650 doi:10.1002/1545-5017.70650.