Associated Papers
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.
Muccioli L et al.
Epilepsia Open, 2025
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH et al.
European Journal of Human Genetics : Ejhg, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.
Chen L et al.
Frontiers in Pediatrics, 2022
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro LO et al.
Npj Genomic Medicine, 2021
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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