Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib
Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.
Jauss RT et al.
International Journal of Molecular Sciences, 2025
Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up.
Di Muro E et al.
Genes, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.
Jackson I et al.
European Journal of Human Genetics : Ejhg, 2023
36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S4_Ballyhanna_ACMG_classi
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.
Mao B et al.
Frontiers in Neuroscience, 2023
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