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Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 601 - 607
Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described... 
epilepsy | intragenic deletion | developmental delay DNA copy-number variation | exome sequencing | METABOLIC CRISES | GENETICS & HEREDITY
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D993 - D1000
The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the... 
DYSMORPHOLOGY | VARIANTS | ARRAY-CGH | BIOCHEMISTRY & MOLECULAR BIOLOGY | MICRODELETION SYNDROME | DEVELOPMENTAL DELAY | DELETIONS | Rare Diseases - genetics | Phenotype | Humans | Genotype | Internet | Genome, Human | Databases, Nucleic Acid | DNA Copy Number Variations | VI. Genomic variation, diseases and drugs
Journal Article
Scientific Reports, ISSN 2045-2322, 07/2016, Volume 6, Issue 1, p. 28663
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, p. e61365
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes... 
INTELLECTUAL DISABILITY | AUTISM | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | SEGMENTAL DUPLICATIONS | DEVELOPMENTAL DELAY | SPECTRUM | TRUNCATING MUTATIONS | CLINICAL-SIGNIFICANCE | HAPLOINSUFFICIENCY | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Deletion | Gene duplication | Mutation | Chromosome 16 | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 40 - 45
Journal Article