Associated Papers
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
41469725 (PubMed )
Supplement: 40246_2025_901_MOESM6_ESM.xlsx › Sheet1
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Aschner A et al.
Frontiers in Neurology, 2024
38756210 (PubMed )
Supplement: Table_3.XLSX › Sheet1
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M et al.
Npj Genomic Medicine, 2023
36765070 (PubMed )
Supplement: 41525_2022_343_MOESM1_ESM.pdf
Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.
Rhoades R et al.
Genes, 2022
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.
Ishizuka K et al.
Journal of Neurodevelopmental Disorders, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Steenhof M et al.
Neurogenetics, 2018
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Jiang YH et al.
American Journal of Human Genetics, 2013
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