Associated Papers
Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.
Qin Y et al.
Developmental Neuroscience, 2025
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM6_ESM.xlsx › Sheet1
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J et al.
Bmc Pediatrics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_4.xlsx › Blad1
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L et al.
Orphanet Journal of Rare Diseases, 2022
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A et al.
Clinical Genetics, 2021
Select a paper to view details