PAWEL STANKIEWICZ to Autistic Disorder
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Autistic Disorder.
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0.977
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
Score: 0.328
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Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids. Mol Psychiatry. 2025 Apr; 30(4):1479-1496.
Score: 0.163
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2019 04; 21(4):816-825.
Score: 0.107
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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct; 159B(7):760-71.
Score: 0.070
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Microdeletion and microduplication syndromes. Methods Mol Biol. 2012; 838:29-75.
Score: 0.068
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet. 2011 Nov 15; 20(22):4360-70.
Score: 0.066
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8.
Score: 0.056
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.048
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
Score: 0.029
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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
Score: 0.015
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.015
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.013