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
Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.
Wei R et al.
Frontiers in Genetics, 2025
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS et al.
Pediatric Research, 2022
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Topa A et al.
American Journal of Medical Genetics. Part A, 2016
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