Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_hom
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.
Ciuladaitė Z et al.
Journal of Applied Genetics, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A et al.
American Journal of Human Genetics, 2011
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
Konyukh M et al.
Plos One, 2011
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.
Crepel A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways.
Ziats MN et al.
Plos One, 2011
21935439 (PubMed )
Supplement: pone.0024691.s010.xlsx › AutDB_Database
The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.
Guerra DJ
Autism Research and Treatment, 2011
Duplication 16p11.2 in a child with infantile seizure disorder.
Bedoyan JK et al.
American Journal of Medical Genetics. Part A, 2010
Association and mutation analyses of 16p11.2 autism candidate genes.
Kumar RA et al.
Plos One, 2009
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