Associated Papers
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Mancuso G et al.
International Journal of Molecular Sciences, 2026
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Erdogan EN et al.
American Journal of Medical Genetics. Part A, 2025
AUTS2-related syndrome: Insights from a large European cohort.
Loberti L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
39374907 (PubMed )
Supplement: 10-1055-a-2430-0494-s0520243803oa.pdf
Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Palumbo P et al.
Genes, 2021
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