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European Journal of Medical Genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 129 - 136
3L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8... 
Intellectual disability | MED13L-related intellectual disability | MED13L haploinsufficiency syndrome | Developmental delay | MED13L | DEFECTS | DE-NOVO MUTATIONS | OF-FUNCTION VARIANTS | GENES | GENETICS & HEREDITY
Journal Article
Nature Communications, ISSN 2041-1723, 11/2016, Volume 7, Issue 1, p. 13316
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily... 
INTELLECTUAL DISABILITY | MECP2 | RATES | MULTIDISCIPLINARY SCIENCES | GENES | COPY NUMBER VARIATION | MED13L
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 10/2017, Volume 19, Issue 10, pp. 1083 - 1086
Journal Article
neurogenetics, ISSN 1364-6745, 5/2018, Volume 19, Issue 2, pp. 93 - 103
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2018, Volume 9, Issue 2, pp. 83 - 91
Mutations in the gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive... 
Cognitive delay | Language impairment | Missense mutation | MED13L | Original
Journal Article
Clinical Case Reports, ISSN 2050-0904, 06/2017, Volume 5, Issue 6, pp. 833 - 840
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies.... 
DEAF | haploinsufficiency syndrome | 13L | Clinical exome sequencing | familial Mediterranean fever | MEFV | MED
Journal Article
Archivum Immunologiae et Therapiae Experimentalis, ISSN 0004-069X, 10/2018, Volume 66, Issue 5, pp. 365 - 377
The Mediator complex subunit 13-like (MED13L) protein is part of the multi-protein mediator complex and plays an important role in gene transcription.... 
Congenic mice | Biomedicine | Immunology | Mediator complex | THRAP2 | Collagen-induced arthritis | Rheumatoid arthritis | Pharmacology/Toxicology | MED13L | RHEUMATOID-ARTHRITIS | MED13L HAPLOINSUFFICIENCY | RETINOBLASTOMA TUMOR-SUPPRESSOR | TRANSCRIPTION | MODEL | IMMUNOLOGY | MULTIPLE SEQUENCE ALIGNMENT | DISEASE | WNT | EXPRESSION | Arthritis, Experimental - genetics | Autoantibodies - metabolism | Genetic Predisposition to Disease | Disease Susceptibility | Genetic Association Studies | Humans | Genotype | Mediator Complex - genetics | Polymorphism, Genetic | Arthritis, Rheumatoid - genetics | Animals | Mice | Mice, Congenic | Genetic Background | Disease Models, Animal | Medical research | Genetic disorders | Business schools | Genes | Arthritis | Disease susceptibility | Genetic transcription | Genetic polymorphisms | Rheumatoid factor | Collagen | Analysis | Medicine, Experimental | Genetic research | Genetic aspects | Animal models | Phenotypes | Immune response | Transcription | Rodents | Computer applications | Data processing | Genetic diversity | Mental retardation | Original | Basic Medicine | Medical and Health Sciences | Rheumatoid Arthritis | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | mediator complex | Immunologi inom det medicinska området | Immunology in the medical area | congenic mice
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 181 - 186
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was... 
exome | mediator | intellectual disability | MED13L | Pierre Robin sequence | HAPLOINSUFFICIENCY SYNDROME | DEFECTS | DISORDERS | DE-NOVO MUTATIONS | GENE | GENETICS & HEREDITY | MISSENSE MUTATION | MEDIATOR COMPLEX | Gene mutations | Medicine, Experimental | Medical research | Differential diagnosis | Mutation | Clonal deletion | Copy number
Journal Article