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The Journal of Pathology, ISSN 0022-3417, 09/2017, Volume 243, Issue 1, pp. 9 - 15
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary... 
Coffin–Siris syndrome (CSS) | small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | haploinsufficiency | microphthalmia | SMARCA4/BRG1 | SWI/SNF complex | whole‐exome sequencing (WES) | chromatin remodelling factors | nonsense‐mediated mRNA decay (NMD) | intellectual disability | whole-exome sequencing (WES) | small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | nonsense-mediated mRNA decay (NMD) | COMPLEX | Coffin-Siris syndrome (CSS) | PHENOTYPE | COMPONENTS | PATHOLOGY | ONCOLOGY | PATIENT | Immunohistochemistry | Carcinoma, Small Cell - genetics | Frameshift Mutation | Microphthalmos - genetics | Humans | Middle Aged | Male | Intellectual Disability - metabolism | Ovarian Neoplasms - genetics | Carcinoma, Small Cell - chemistry | Micrognathism - metabolism | DNA Mutational Analysis | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Genetic Predisposition to Disease | Micrognathism - genetics | Hypercalcemia - metabolism | Neck - abnormalities | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Phenotype | Hypercalcemia - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Biomarkers, Tumor - genetics | Transcription Factors - analysis | Abnormalities, Multiple - metabolism | Nuclear Proteins - analysis | Face - abnormalities | Microphthalmos - metabolism | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Microphthalmos - diagnosis | Micrognathism - diagnosis | Hand Deformities, Congenital - metabolism | Female | Nuclear Proteins - genetics | Hypercalcemia - genetics | Ovarian Neoplasms - chemistry | Biomarkers, Tumor - analysis | Ovarian Neoplasms - diagnosis | RNA, Messenger - genetics | Codon, Nonsense | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Intellectual Disability - diagnosis | DNA Helicases - analysis | Heterozygote | Genetic aspects | Carcinoma | Analysis | Cancer | Animal models | Nonsense mutation | mRNA turnover | Coffin-Siris syndrome | Disorders | Frameshift mutation | Reverse transcription | Immunoblotting | Nonsense-mediated mRNA decay | Patients | Chromatin remodeling | Haploinsufficiency | Polymerase chain reaction | Missense mutation | Mutation | Tumors | Microphthalmia | Index Medicus | SWI | BRG1 | Brief Definitive Report | Brief Definitive Reports | SMARCA4 | SNF complex
Journal Article
Nature Neuroscience, ISSN 1097-6256, 09/2017, Volume 20, Issue 9, pp. 1217 - 1224
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 262 - 275
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0147372 - e0147372
The SWI/SNF chromatin remodeling complex is frequently inactivated by somatic mutations of its various components in various types of cancers, and also by... 
HEPATOCELLULAR-CARCINOMA | METHYLATION | GENE | IDENTIFIES FREQUENT MUTATION | MULTIDISCIPLINARY SCIENCES | HYPERCALCEMIC TYPE | SMARCA4 MUTATIONS | EPIGENETIC FIELD DEFECT | ARID1A | CANCER | SOMATIC MUTATIONS | Promoter Regions, Genetic | DNA, Neoplasm - metabolism | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - pathology | Gene Frequency | Humans | Middle Aged | Male | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | DNA, Neoplasm - chemistry | Actins - genetics | Chromosomal Proteins, Non-Histone - genetics | Esophageal Neoplasms - pathology | Esophageal Neoplasms - genetics | Alleles | Cell Line, Tumor | CpG Islands | Adult | Female | Aged | Mutation | Site-Specific DNA-Methyltransferase (Adenine-Specific) | Squamous cell carcinoma | Usage | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Esophageal cancer | DNA sequencing | Heart surgery | Genomics | Genes | Genomes | Carcinogenesis | Liver cancer | Carcinogens | Alterations | DNA methylation | Forkhead protein | Deoxyribonucleic acid--DNA | CpG islands | Esophageal carcinoma | Cloning | RNA polymerase | Chromatin remodeling | Esophagus | Gene frequency | SWI/SNF complex | Epigenetics | Genetic testing | Aberration | Methylation | Cancer | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2017, Volume 114, Issue 46, pp. 12249 - 12254
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 | 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 | Index Medicus | 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
Journal Article
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 08/2019, Volume 7, Issue 1, pp. 140 - 140
Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study,... 
SMARCB1 | VEGF | NEUROSCIENCES | SMARCA4 | Targeted panel sequencing | GROWTH | Intraventricular meningioma | NF2 | RECEPTORS | EXPRESSION | PROMOTES | BRAIN | PROGRESSION | Index Medicus
Journal Article