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Journal of cell science, ISSN 0021-9533, 08/2020, Volume 133, Issue 15, p. jcs243303
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
Journal Article
Theriogenology, ISSN 0093-691X, 02/2021, Volume 161, pp. 65 - 73
Journal Article
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | 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
Structure (London), ISSN 0969-2126, 05/2019, Volume 27, Issue 5, pp. 837 - 845.e3
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Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2
Biochimica et biophysica acta. General subjects, ISSN 0304-4165, 09/2015, Volume 1850, Issue 9, pp. 1842 - 1848
Screening | SETD2 | Assay development | ASH1L | H3K36 | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Amino Acid Sequence | Transcription Factors - chemistry | Humans | Models, Molecular | Molecular Sequence Data | Substrate Specificity | DNA-Binding Proteins - chemistry | DNA-Binding Proteins - metabolism | Histone-Lysine N-Methyltransferase - chemistry | Transcription Factors - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Kinetics | Methylation | Methyltransferases | Lysine
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1644 - 1648
multiple congenital anomaly | ASH1L | H3K36 methylation | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Intellectual Disability - diagnostic imaging | Humans | Congenital Abnormalities - physiopathology | Child, Preschool | Male | Transcription Factors - genetics | Congenital Abnormalities - diagnostic imaging | DNA-Binding Proteins - genetics | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Magnetic Resonance Imaging | Congenital Abnormalities - genetics | Microcephaly - physiopathology | Mutation | DNA methylation | Histone methyltransferase | Autism | Myelination | Microencephaly | Index Medicus
Journal Article
British journal of haematology, ISSN 0007-1048, 11/2016, Volume 175, Issue 3, pp. 525 - 530
beta‐thalassaemia | Trithorax protein | ASH1L | beta-thalassaemia | Life Sciences & Biomedicine | Hematology | Science & Technology | Cell Line | Erythroid Precursor Cells - cytology | Humans | Gene Expression Regulation | Gene Silencing | beta-Thalassemia - genetics | Chromosome Mapping | beta-Globins - genetics | beta-Thalassemia - diagnosis | DNA-Binding Proteins - metabolism | Genetic Variation | Transcription Factors - metabolism | Phenotype | RNA Interference | Erythroid Precursor Cells - metabolism | High-Throughput Nucleotide Sequencing | Histones - metabolism | beta-Thalassemia - metabolism | Genome, Human | Genetic Linkage | Chromatin | Methyltransferases | RNA | Gene mutations | Genes | Genomics | Histones | Single nucleotide polymorphisms | Index Medicus
Journal Article
Molecular cytogenetics, ISSN 1755-8166, 06/2020, Volume 13, Issue 1, pp. 1 - 6
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Intelligence | Cardiomyopathy | Intellectual disabilities | Copy number | Genes | Methyltransferase | Gestation | Neurodevelopmental disorders | Genotype & phenotype | Scoliosis | Electrocardiography | Blood pressure | Age | Amniocentesis | Congenital diseases | Fetuses | Heredity | Chromosome 1 | Haploinsufficiency | Pregnancy | Heart rate | Genetic counseling | Prenatal diagnosis | Lysine | Infertility | Mutation | Microdeletion | Intellectual disability | ASH1L | 1q22
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