Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E et al.
International Journal of Molecular Sciences, 2022
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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A et al.
International Journal of Molecular Sciences, 2018
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Corpas M et al.
Bmc Genomics, 2015
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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.
Majeed F et al.
Pediatric Blood & Cancer, 2005
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0