| Paper ID |
Year |
First Author |
Cases |
Families |
de novo Mutaitons |
Title |
Pubmed ID |
| AutD0001 |
2011 |
O'Roak BJ |
|
20 | 21 |
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. |
21572417 |
| AutD0007 |
2012 |
Michaelson JJ |
|
10 | 565 |
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
23260136 |
| AutD0006 |
2012 |
O'Roak BJ |
2446 |
| 46 |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. |
23160955 |
| AutD0005 |
2012 |
Iossifov I |
|
343 | 50 |
De novo gene disruptions in children on the autistic spectrum. |
22542183 |
| AutD0004 |
2012 |
Neale BM |
175 |
175 | 173 |
Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
22495311 |
| AutD0003 |
2012 |
O'Roak BJ |
1703 |
209 | 242 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
22495309 |
| AutD0002 |
2012 |
Sanders SJ |
|
238 | 172 |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
22495306 |
| AutD0008 |
2013 |
Jiang YH |
|
32 | 39 |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque |
23849776 |
| AutD00040 |
2014 |
Fromer M |
|
| 94 |
De novo mutations in schizophrenia implicate synaptic networks. |
24463507 |
| AutD00039 |
2014 |
EuroEPINOMICS-RES Consorti |
1 |
| 1 |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. |
25262651 |
| AutD00014 |
2014 |
O'Roak BJ |
3486 |
| 59 |
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
25418537 |
| AutD00013 |
2014 |
Iossifov I |
2508 |
| 1194 |
The contribution of de novo coding mutations to autism spectrum disorder. |
25363768 |
| AutD00012 |
2014 |
De Rubeis S |
2270 |
| 1702 |
Synaptic, transcriptional and chromatin genes disrupted in autism |
25363760 |
| AutD00011 |
2014 |
Dong S |
787 |
787 | 42 |
De novo insertions and deletions of predominantly paternal origin are associated with autism spectru |
25284784 |
| AutD00010 |
2014 |
Lee H |
2 |
1 | 2 |
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins w |
24501278 |
| AutD0009 |
2014 |
Tavassoli T |
1 |
1 | 4 |
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. |
24650168 |
| AutD00041 |
2015 |
Deciphering Developmental |
15 |
| 15 |
Large-scale discovery of novel genetic causes of developmental disorders. |
25533962 |
| AutD00015 |
2015 |
Krumm N |
2377 |
1373 | 77 |
Excess of rare, inherited truncating mutations in autism |
25961944 |
| AutD00016 |
2015 |
Moreno-Ramos OA |
4 |
| 5 |
Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation |
26352270 |
| AutD00018 |
2016 |
Hashimoto R |
30 |
| 38 |
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. |
26582266 |
| AutD00017 |
2016 |
Turner TN |
53 |
| 27 |
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN |
26749308 |
| AutD00042 |
2016 |
Halvardson J |
5 |
| 7 |
Mutations in HECW2 are associated with intellectual disability and epilepsy. |
27334371 |
| AutD00043 |
2016 |
Horvath GA |
1 |
| 1 |
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: |
26647175 |
| AutD00020 |
2016 |
Wang T |
1543 |
1045 | 54 |
De novo genic mutations among a Chinese autism spectrum disorder cohort |
27824329 |
| AutD00019 |
2016 |
Yuen RK |
200 |
| 301 |
Genome-wide characteristics of de novo mutations in autism. |
27525107 |
| AutD00035 |
2017 |
Trujillano D |
5 |
| 5 |
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
27848944 |
| AutD00036 |
2017 |
Bramswig NC |
7 |
| 14 |
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndr |
27848077 |
| AutD00037 |
2017 |
Nilsson D |
8 |
| 17 |
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially |
27862604 |
| AutD00038 |
2017 |
Redin C |
28 |
| 34 |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
27841880 |
| AutD00034 |
2017 |
Chen R |
107 |
116 | 128 |
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
28344757 |
| AutD00033 |
2017 |
Bowling KM |
18 |
| 18 |
Genomic diagnosis for children with intellectual disability and/or developmental delay. |
28554332 |
| AutD00032 |
2017 |
Saskin A |
2392 |
2392 | 4 |
Prevalence of four Mendelian disorders associated with autism in 2392 affected families. |
28250423 |
| AutD00031 |
2017 |
Geisheker MR |
|
| 36 |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
28628100 |
| AutD00030 |
2017 |
Wen Z |
120 |
| 2 |
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation |
28785396 |
| AutD00029 |
2017 |
Cai T |
1 |
| 1 |
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intel |
28891213 |
| AutD00021 |
2017 |
Stessman HA |
6342 |
| 74 |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development |
28191889 |
| AutD00022 |
2017 |
C Yuen RK |
1625 |
| 237 |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
28263302 |
| AutD00023 |
2017 |
Li J |
536 |
| 22 |
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au |
28831199 |
| AutD00024 |
2018 |
Liu Y |
|
300 | 4 |
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu |
29754769 |
| AutD00025 |
2018 |
Zhu W |
1 |
| 2 |
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual |
29423971 |
| AutD00026 |
2018 |
Kimura Y |
1 |
| 1 |
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. |
29381230 |
| AutD00027 |
2018 |
Takata A |
262 |
262 | 322 |
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
29346770 |
| AutD00028 |
2018 |
Zhao JJ |
1 |
| 1 |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. |
28990276 |
| AutD00044 |
2018 |
McDermott JH |
2 |
| 2 |
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum |
29288087 |
