Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
40768677 (PubMed )
Supplement: DS_PO-24-00760.pdf
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Pogozhykh D et al.
British Journal of Haematology, 2023
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 › C._Class3_SNVs_indels
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.
Wei CH et al.
Bioinformatics (oxford, England), 2018
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP et al.
European Journal of Human Genetics : Ejhg, 2017
28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Carlsson G et al.
Pediatric Blood & Cancer, 2009
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