Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD.
Ha HJ et al.
Biochemical and Biophysical Research Communications, 2023
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Sheikh TI et al.
Translational Psychiatry, 2021
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL et al.
European Journal of Human Genetics : Ejhg, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).
Ha HJ et al.
Plos One, 2018
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Di Donato N et al.
American Journal of Human Genetics, 2016
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012
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