X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (100) 100
humans (89) 89
truncating mutations (74) 74
mutation (59) 59
female (53) 53
male (49) 49
genetics & heredity (48) 48
genetic aspects (45) 45
genes (40) 40
adult (30) 30
genetics (26) 26
middle aged (24) 24
analysis (23) 23
gene (22) 22
genetic predisposition to disease (21) 21
pedigree (20) 20
phenotype (20) 20
research (20) 20
genetic research (19) 19
neurosciences (17) 17
animals (16) 16
article (16) 16
case-control studies (16) 16
gene mutations (16) 16
adolescent (15) 15
autism (15) 15
breast cancer (15) 15
risk factors (15) 15
cancer (14) 14
child (14) 14
genotype (14) 14
gene expression (13) 13
genomics (13) 13
oncology (13) 13
proteins (13) 13
risk (13) 13
young adult (13) 13
biochemistry & molecular biology (12) 12
child, preschool (12) 12
genomes (12) 12
mutation - genetics (12) 12
truncating mutation (12) 12
variants (12) 12
breast neoplasms - genetics (11) 11
dna mutational analysis (11) 11
de-novo mutations (10) 10
disease (10) 10
exome - genetics (10) 10
families (10) 10
heterozygote (10) 10
identification (10) 10
intellectual disability - genetics (10) 10
microcephaly - genetics (10) 10
schizophrenia (10) 10
aged (9) 9
cell biology (9) 9
clinical neurology (9) 9
dna-binding proteins - genetics (9) 9
mutations (9) 9
nerve tissue proteins - genetics (9) 9
physiological aspects (9) 9
protein (9) 9
psychiatry (9) 9
alleles (8) 8
autism spectrum disorder (8) 8
brain (8) 8
family (8) 8
gene frequency (8) 8
genetic disorders (8) 8
genetic variation (8) 8
germline mutations (8) 8
health aspects (8) 8
multidisciplinary sciences (8) 8
patients (8) 8
asian continental ancestry group - genetics (7) 7
association (7) 7
exome (7) 7
exons (7) 7
genes, recessive (7) 7
genetic screening (7) 7
genotype & phenotype (7) 7
infant (7) 7
medical research (7) 7
medicine (7) 7
phenotypes (7) 7
polymorphism, single nucleotide (7) 7
sequence analysis, dna (7) 7
transcription factor (7) 7
brca2 (6) 6
breast neoplasms - epidemiology (6) 6
deoxyribonucleic acid--dna (6) 6
development and progression (6) 6
diagnosis (6) 6
dilated cardiomyopathy (6) 6
dna sequencing (6) 6
epidemiology (6) 6
expression (6) 6
genome-wide association (6) 6
heart diseases (6) 6
intellectual disability (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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 | 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
Neuron, ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Journal Article
Journal Article
Stem Cell Research and Therapy, ISSN 1757-6512, 10/2018, Volume 9, Issue 1, pp. 279 - 279
BackgroundGeneration of induced photoreceptors holds promise for in vitro modeling of intractable retinal diseases. Retinitis pigmentosa is an inherited... 
disease modeling | phenotypic variation | photoreceptor | truncating mutation | retinitis pigmentosa | genotype-phenotype relationship | nonsense-mediated mRNA decay (NMD) | Redirect differentiation | dermal fibroblast | EYS | MEDICINE, RESEARCH & EXPERIMENTAL | ORTHOLOG | NEUROD | EYES SHUT HOMOLOG | IDENTIFICATION | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | PATHWAY | NONSENSE-MEDIATED DECAY | MESSENGER-RNA DECAY | DIFFERENTIATION | HOMEOBOX GENE | Homeodomain Proteins - metabolism | Humans | Middle Aged | Otx Transcription Factors - metabolism | Male | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Rhodopsin - metabolism | Case-Control Studies | Rod Opsins - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Otx Transcription Factors - genetics | Rod Opsins - metabolism | Trans-Activators - genetics | Female | Cell Differentiation | Eye Proteins - genetics | Arrestin - metabolism | Recoverin - genetics | Fibroblasts - metabolism | Arrestin - genetics | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Basic Helix-Loop-Helix Transcription Factors - genetics | RNA, Messenger - genetics | Gene Expression Regulation | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Transcription Factors - genetics | Fibroblasts - pathology | RNA Stability | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Homozygote | Rhodopsin - genetics | Eye Proteins - metabolism | Heterozygote | Trans-Activators - metabolism | Aged | Mutation | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Retinitis Pigmentosa - pathology | Recoverin - metabolism | Photoreceptors | Genetic aspects | Research | Genetic transcription | Gene mutations | Retinitis pigmentosa | Rhodopsin | Messenger RNA | Analysis | Genes | Genetic research | NeuroD protein | Phenotypes | Disease | mRNA turnover | Phenotypic variations | Retina | Recoverin | Nonsense-mediated mRNA decay | Gene expression | Defects | Polymerase chain reaction | Fibroblasts | Retinal degeneration | Otx2 protein | Retinitis | Skin | Dystrophy | Index Medicus
Journal Article
Cell, ISSN 0092-8674, 06/2019, Volume 178, Issue 1, pp. 242 - 260.e29
Journal Article