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asxl1 (111) 111
science & technology (104) 104
life sciences & biomedicine (102) 102
humans (75) 75
mutation (69) 69
hematology (59) 59
repressor proteins - genetics (53) 53
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genetics & heredity (13) 13
hemic and lymphatic diseases (13) 13
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asxl1 mutation (12) 12
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idh1 (12) 12
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dna methylation (9) 9
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chromatin (6) 6
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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 (London), ISSN 1476-4687, 01/2017, 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... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus | 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
Journal Article
Biology of blood and marrow transplantation, ISSN 1083-8791, 07/2017, Volume 23, Issue 7, pp. 1095 - 1101
Journal Article
Frontiers in oncology, ISSN 2234-943X, 01/2020, Volume 9, pp. 1439 - 1439
Background: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15 and 45 years may exhibit unique biologic and genomic characteristics as... 
Life Sciences & Biomedicine | Oncology | Science & Technology | Youth | Teenagers | ASXL1 | mutation | adolescents and young adults (AYAs) | early-onset | cholangiocarcinoma
Journal Article
Journal of hematology and oncology, ISSN 1756-8722, 10/2019, Volume 12, Issue 1, pp. 104 - 104
Background Additional sex combs-like 1 (ASXL1) mutations have been described in all forms of myeloid neoplasms including chronic myelomonocytic leukemia (CMML)... 
Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Index Medicus | ASXL1 | Myeloid transformation | HIF-1α | ID1 | RUNX1
Journal Article
International journal of oncology, ISSN 1019-6439, 04/2018, Volume 52, Issue 4, pp. 1209 - 1223
Additional sex combs-like 1 (ASXL1) is a well-known tumor suppressor gene and epigenetic modifier. ASXL1 mutations are frequent in myeloid malignances; these... 
RNA sequencing | CRISPR/Cas9 | ASXL1 mutations | U937 cells | Myeloid differentiation | Life Sciences & Biomedicine | Oncology | Science & Technology
Journal Article
Cancer management and research, ISSN 1179-1322, 07/2019, Volume 11, pp. 6499 - 6509
Background: As a class of endogenous noncoding RNAs, some circular RNAs (circRNAs) have recently been reported to play a role in the regulation of... 
Life Sciences & Biomedicine | Oncology | Science & Technology | Cell growth | Plasmids | MicroRNAs | Colorectal cancer | Cell cycle | Biomarkers | Epigenetics | Tumorigenesis | Genomes | Mutation | Gene expression | Apoptosis | ASXL1 | circ-ITGA7 | colorectal cancer | proliferation | miR-3187-3p
Journal Article
Molecular cell, ISSN 1097-2765, 06/2019, Volume 74, Issue 6, pp. 1138 - 1147.e6
Adenine N6 methylation in DNA (6mA) is widespread among bacteria and phage and is detected in mammalian genomes, where its function is largely unexplored. Here... 
ASXL1 | ALKBH4 | ALKBH1 | DNA methylation | METTL4 | 6mA | TRIP12 | MPND | Index Medicus
Journal Article
Clinical case reports, ISSN 2050-0904, 08/2018, Volume 6, Issue 8, pp. 1452 - 1456
Key Clinical Message In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have... 
ASXL1 | Bohring‐Opitz syndrome | mutation prioritization | variants of unknown significance | intellectual disability | Bohring-Opitz syndrome | Mutation
Journal Article
Annals of hematology, ISSN 1432-0584, 09/2018, Volume 98, Issue 1, pp. 83 - 91
Journal Article