X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (312) 312
Publication (89) 89
Book / eBook (25) 25
Newspaper Article (23) 23
Patent (13) 13
Dissertation (11) 11
Book Review (10) 10
Conference Proceeding (5) 5
Book Chapter (4) 4
Paper (4) 4
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (107) 107
humans (89) 89
astronomy & astrophysics (61) 61
astrophysics (55) 55
cosmology and extragalactic astrophysics (50) 50
astrophysics - cosmology and nongalactic astrophysics (48) 48
female (42) 42
galaxy astrophysics (41) 41
genetics & heredity (41) 41
male (40) 40
gravitational lensing: strong (37) 37
physics - cosmology and nongalactic astrophysics (37) 37
galaxies: high-redshift (36) 36
research (35) 35
article (33) 33
genetic aspects (33) 33
galaxies (31) 31
galaxy clusters (29) 29
autism (28) 28
genes (28) 28
red shift (28) 28
analysis (27) 27
astrophysics - astrophysics of galaxies (27) 27
clusters (27) 27
astrophysics, cosmology and astronomy (25) 25
dark matter (25) 25
galaxies: clusters: general (25) 25
genomics (25) 25
mutation (24) 24
genetics (23) 23
settore fis/05 - astronomia e astrofisica (23) 23
adult (21) 21
animals (20) 20
genomes (20) 20
child (18) 18
dna copy number variations (18) 18
galaxies: clusters: individual (18) 18
gravitational lenses (17) 17
physics - astrophysics of galaxies (17) 17
gene expression (16) 16
adolescent (15) 15
galaxies: evolution (15) 15
hubble-space-telescope (15) 15
nonluminous matter (15) 15
oligonucleotide array sequence analysis (15) 15
oncology (15) 15
biochemistry & molecular biology (14) 14
cosmology: observations (14) 14
galactic clusters (14) 14
genetic predisposition to disease (14) 14
mass (14) 14
middle aged (14) 14
phenotype (14) 14
surgery (14) 14
autistic disorder - genetics (13) 13
cancer (13) 13
comparative genomic hybridization (13) 13
genome, human (13) 13
health aspects (13) 13
star-forming galaxies (13) 13
studies (13) 13
astronomy (12) 12
copy-number variation (12) 12
de-novo mutations (12) 12
disease (12) 12
gene dosage (12) 12
gene mutations (12) 12
genetic variation (12) 12
hubble space telescope (12) 12
human necessities (12) 12
hygiene (12) 12
medical or veterinary science (12) 12
mental disorders (12) 12
multidisciplinary sciences (12) 12
photometry (12) 12
polymorphism, single nucleotide (12) 12
research article (12) 12
telescopes (12) 12
child, preschool (11) 11
copy number (11) 11
density (11) 11
dna (11) 11
intellectual disability (11) 11
lung neoplasms - genetics (11) 11
medical research (11) 11
medicine (11) 11
preparations for medical, dental, or toilet purposes (11) 11
specific therapeutic activity of chemical compounds ormedicinal preparations (11) 11
x-ray (11) 11
aged (10) 10
array cgh (10) 10
biotechnology & applied microbiology (10) 10
chromosomes (10) 10
extragalactic legacy survey (10) 10
gravitational lensing: weak (10) 10
images (10) 10
intellectual disability - genetics (10) 10
mathematical models (10) 10
physiological aspects (10) 10
usage (10) 10
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (7) 7
Robarts - Stacks (6) 6
UTL at Downsview - May be requested (5) 5
Online Resources - Online (4) 4
Providence Healthcare - Stacks (2) 2
Royal Ontario Museum - Stacks (2) 2
Trinity College (John W Graham) - Storage (2) 2
OISE - Stacks (1) 1
Royal Ontario Museum - Pamphlets (1) 1
Royal Ontario Museum - Periodical Stacks (1) 1
St. Michael's College (John M. Kelly) - 2nd Floor (1) 1
Trinity College (John W Graham) - Stacks (1) 1
UofT at Mississauga - Stacks (1) 1
UofT at Scarborough - Stacks (1) 1
Victoria University Emmanuel College - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (382) 382
Spanish (5) 5
French (3) 3
Estonian (1) 1
German (1) 1
Hungarian (1) 1
Icelandic (1) 1
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Science, ISSN 0036-8075, 09/2015, Volume 349, Issue 6253, pp. aab3761 - aab3761
Journal Article
Journal Article
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 246 - 250
Journal Article
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article