Associated Papers
Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.
Schwarz L et al.
The Journal of Pediatrics, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Convergent somatic evolution commences in utero in a germline ribosomopathy.
Machado HE et al.
Nature Communications, 2023
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS et al.
Pediatric Research, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.
Venugopal P et al.
Haematologica, 2017
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.
Ryan TD et al.
Pediatric Blood & Cancer, 2015
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Woloszynek JR et al.
Blood, 2004
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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