Associated Papers
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.
Andres EM et al.
Children (basel, Switzerland), 2023
37508616 (PubMed )
Supplement: children-10-01119-s001.zip › children-2428542-supplementary.pdf
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C et al.
Scientific Reports, 2022
35546177 (PubMed )
Supplement: 41598_2022_11932_MOESM1_ESM.xlsx › Supplementary_Table_-_Data
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.
Toffano AA et al.
Scientific Reports, 2020
33087732 (PubMed )
Supplement: 41598_2020_74591_MOESM1_ESM.pdf
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
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