Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.
Jain S et al.
Genes, 2024
Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Chang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
37377903 (PubMed )
Supplement: crc-22-0402-s06.xlsx › E._Class4_SNVs_indels
Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.
Li HW et al.
Molecular Genetics & Genomic Medicine, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Younger G et al.
American Journal of Medical Genetics. Part A, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
Moseng MA et al.
The Journal of Physical Chemistry. B, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B et al.
Scientific Reports, 2015
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0
Select a paper to view details