Associated Papers
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1
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 et al.
Children (basel, Switzerland), 2024
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Peretto L et al.
International Journal of Molecular Sciences, 2023
Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.
Wu D et al.
Plos One, 2022
36512530 (PubMed )
Supplement: pone.0269029.s001.xlsx › Supplement_Table_1
Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman-Bodian-Diamond syndrome.
Rother C et al.
Leukemia & Lymphoma, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
30680046 (PubMed )
Supplement: 13053_2018_102_MOESM5_ESM.xlsx › 192_Variants
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM12_ESM.xlsx › Sup._T9_-_GL_calls
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.
Margolskee E et al.
Oncotarget, 2016
27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
25865493 (PubMed )
Supplement: mmc1.pdf
Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
Karow A et al.
Haematologica, 2010
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