Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Pourahmadiyan A et al.
The International Journal of Neuroscience, 2021
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J et al.
Genome Medicine, 2019
BRAT1-related disease--identification of a patient without early lethality.
Mundy SA et al.
American Journal of Medical Genetics. Part A, 2016
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