Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.
Hamzeh AR et al.
European Journal of Medical Genetics, 2016
The GPSM2/LGN GoLoco motifs are essential for hearing.
Bhonker Y et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R et al.
American Journal of Medical Genetics. Part A, 2013
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