X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (20) 20
index medicus (20) 20
autism (16) 16
genes (15) 15
article (14) 14
de-novo mutations (12) 12
female (12) 12
genetics & heredity (12) 12
male (12) 12
mutation (12) 12
genetic aspects (11) 11
intellectual disability (10) 10
research (10) 10
animals (9) 9
phenotype (9) 9
genetics (8) 8
child (7) 7
gene mutations (7) 7
life sciences (7) 7
adolescent (6) 6
autistic disorder - genetics (6) 6
expression (6) 6
intellectual disability - genetics (6) 6
mutation - genetics (6) 6
risk factors (6) 6
analysis (5) 5
autism spectrum disorder (5) 5
child, preschool (5) 5
exome - genetics (5) 5
genetic predisposition to disease (5) 5
mice (5) 5
risk (5) 5
schizophrenia (5) 5
adult (4) 4
biology (4) 4
dna sequencing (4) 4
exome (4) 4
gene (4) 4
multidisciplinary sciences (4) 4
neurosciences (4) 4
nucleotide sequencing (4) 4
physiological aspects (4) 4
polymorphism, single nucleotide (4) 4
simplex collection (4) 4
autism spectrum disorder - genetics (3) 3
bortezomib (3) 3
cancer (3) 3
cell line, tumor (3) 3
cohort studies (3) 3
copy number variations (3) 3
developmental disabilities (3) 3
down-regulation (3) 3
genomics (3) 3
habituation (3) 3
health aspects (3) 3
human health and pathology (3) 3
infant (3) 3
mental disorders (3) 3
mental retardation (3) 3
molecular inversion probes (3) 3
neurodevelopmental disorders (3) 3
neurodevelopmental disorders - genetics (3) 3
oncology (3) 3
pedigree (3) 3
pervasive developmental disorders (3) 3
report (3) 3
siblings (3) 3
studies (3) 3
[sdv.gen]life sciences [q-bio]/genetics (2) 2
adnp (2) 2
biomarkers (2) 2
boronic acids - pharmacology (2) 2
brain - pathology (2) 2
cell line (2) 2
chd8 (2) 2
child development deviations (2) 2
child development disorders, pervasive - genetics (2) 2
children (2) 2
chromatin (2) 2
chromosomes (2) 2
clinical neurology (2) 2
copy number variation (2) 2
copy-number variation (2) 2
development and progression (2) 2
developmental disabilities - genetics (2) 2
dna copy number variations (2) 2
dna copy number variations - genetics (2) 2
drosophila (2) 2
drug resistance, neoplasm - genetics (2) 2
epileptic encephalopathies (2) 2
gene deletion (2) 2
gene duplication (2) 2
gene expression (2) 2
gene knockdown techniques (2) 2
genetic association studies (2) 2
genetic predisposition to disease - genetics (2) 2
genetic variation (2) 2
genome sequence (2) 2
genome, human (2) 2
genome-wide association study (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 4, pp. 515 - 526
Journal Article
BIOLOGY-BASEL, ISSN 2079-7737, 03/2019, Volume 8, Issue 1, p. 11
Neurogenesis is an elegantly coordinated developmental process that must maintain a careful balance of proliferation and differentiation programs to be... 
PR-SET7 | 53BP1 RECRUITMENT | CHROMATIN | KMT5C | epigenetic | H4K20 METHYLATION | FANCONI-ANEMIA | SUV420H | lysine-methylation | histone methylation | mutations | neurodevelopment | METHYLTRANSFERASE SETD8 | GENOME INTEGRITY | BIOLOGY | KMT5B | CELL-CYCLE | KMT5A | DNA-REPAIR | H4K20
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D804 - D811
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 | 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
Nature, ISSN 0028-0836, 08/2016, Volume 536, Issue 7615, pp. 205 - 209
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 541 - 552
Journal Article
Nature Neuroscience, ISSN 1097-6256, 08/2017, Volume 20, Issue 8, pp. 1043 - 1051
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
Journal Article