403 related articles for article (PubMed ID: 28330790)
1. Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M; El-Khechen D; Black MH; Farwell Hagman KD; Tang S; Powis Z
Pediatr Neurol; 2017 May; 70():34-43.e2. PubMed ID: 28330790
[TBL] [Abstract][Full Text] [Related]
2. Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism.
Yuan B; Wang M; Wu X; Cheng P; Zhang R; Zhang R; Yu S; Zhang J; Du Y; Wang X; Qiu Z
Neurosci Bull; 2023 Oct; 39(10):1469-1480. PubMed ID: 36881370
[TBL] [Abstract][Full Text] [Related]
3. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
Kim N; Kim KH; Lim WJ; Kim J; Kim SA; Yoo HJ
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33374967
[TBL] [Abstract][Full Text] [Related]
4. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A; Gómez Rodríguez MJ; Sánchez Calvin MT; Quesada-Espinosa JF; Lezana Rosales JM; Palma Milla C; Gómez-Manjón I; Hidalgo Mayoral I; Pérez de la Fuente R; Díaz de Bustamante A; Darnaude MT; Gil-Fournier B; Ramiro León S; Ramos Gómez P; Sierra Tomillo O; Juárez Rufián A; Arranz Cano MI; Villares Alonso R; Morales-Pérez P; Segura-Tudela A; Camacho A; Nuñez N; Simón R; Moreno-García M; Alvarez-Mora MI
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921431
[TBL] [Abstract][Full Text] [Related]
5. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
[TBL] [Abstract][Full Text] [Related]
6. Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F; Shah J; Jain D; Shah S; Patel H; Patel K; Solanki DI; Iyer AS; Menghani B; Mhatre P; Mehta S; Bajaj S; Patel V; Pandya M; Dhami D; Patel D; Sheth J; Sheth H
BMC Neurol; 2023 Aug; 23(1):292. PubMed ID: 37543562
[TBL] [Abstract][Full Text] [Related]
7. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
da Silva Montenegro EM; Costa CS; Campos G; Scliar M; de Almeida TF; Zachi EC; Silva IMW; Chan AJS; Zarrei M; Lourenço NCV; Yamamoto GL; Scherer S; Passos-Bueno MR
Autism Res; 2020 Feb; 13(2):199-206. PubMed ID: 31696658
[TBL] [Abstract][Full Text] [Related]
8. Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.
Jay K; Mitra A; Harding T; Matthes D; Van Ness B
Mol Genet Genomic Med; 2019 Jul; 7(7):e00751. PubMed ID: 31111659
[TBL] [Abstract][Full Text] [Related]
9. Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI; Sánchez A; Rodríguez-Revenga L; Corominas J; Rabionet R; Puig S; Madrigal I
Orphanet J Rare Dis; 2022 Feb; 17(1):60. PubMed ID: 35183220
[TBL] [Abstract][Full Text] [Related]
10. Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.
Peter B; Dinu V; Liu L; Huentelman M; Naymik M; Lancaster H; Vose C; Schrauwen I
Behav Genet; 2019 Jul; 49(4):399-414. PubMed ID: 30949922
[TBL] [Abstract][Full Text] [Related]
11. Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
Chang YS; Lin CY; Huang HY; Chang JG; Kuo HT
Mol Genet Genomic Med; 2019 Dec; 7(12):e996. PubMed ID: 31595719
[TBL] [Abstract][Full Text] [Related]
12. The Genetic Control of Stoichiometry Underlying Autism.
Darnell RB
Annu Rev Neurosci; 2020 Jul; 43():509-533. PubMed ID: 32640929
[TBL] [Abstract][Full Text] [Related]
13. Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort.
Wang J; Yu J; Wang M; Zhang L; Yang K; Du X; Wu J; Wang X; Li F; Qiu Z
Biol Psychiatry; 2023 Nov; 94(10):792-803. PubMed ID: 37393044
[TBL] [Abstract][Full Text] [Related]
14. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
Duffney LJ; Valdez P; Tremblay MW; Cao X; Montgomery S; McConkie-Rosell A; Jiang YH
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):426-433. PubMed ID: 29704315
[TBL] [Abstract][Full Text] [Related]
15. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH
Mol Autism; 2017; 8():66. PubMed ID: 29296277
[TBL] [Abstract][Full Text] [Related]
16. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Kalsner L; Twachtman-Bassett J; Tokarski K; Stanley C; Dumont-Mathieu T; Cotney J; Chamberlain S
Mol Genet Genomic Med; 2018 Mar; 6(2):171-185. PubMed ID: 29271092
[TBL] [Abstract][Full Text] [Related]
17. A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Iwafuchi S; Kikuchi A; Endo W; Inui T; Aihara Y; Satou K; Kaname T; Kure S
Brain Dev; 2021 Feb; 43(2):303-307. PubMed ID: 33097317
[TBL] [Abstract][Full Text] [Related]
18. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X; Feliciano P; Shu C; Wang T; Astrovskaya I; Hall JB; Obiajulu JU; Wright JR; Murali SC; Xu SX; Brueggeman L; Thomas TR; Marchenko O; Fleisch C; Barns SD; Snyder LG; Han B; Chang TS; Turner TN; Harvey WT; Nishida A; O'Roak BJ; Geschwind DH; ; Michaelson JJ; Volfovsky N; Eichler EE; Shen Y; Chung WK
Nat Genet; 2022 Sep; 54(9):1305-1319. PubMed ID: 35982159
[TBL] [Abstract][Full Text] [Related]
19. Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW; Mehta NH; Allington G; Jin SC; Moreno-De-Luca A; Kahle KT
JAMA Netw Open; 2023 Nov; 6(11):e2343384. PubMed ID: 37991765
[TBL] [Abstract][Full Text] [Related]
20. Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.
Stefanski A; Calle-López Y; Leu C; Pérez-Palma E; Pestana-Knight E; Lal D
Epilepsia; 2021 Jan; 62(1):143-151. PubMed ID: 33200402
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
