These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 35051175)

  • 1. Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
    Rhine CL; Neil C; Wang J; Maguire S; Buerer L; Salomon M; Meremikwu IC; Kim J; Strande NT; Fairbrother WG
    PLoS Genet; 2022 Jan; 18(1):e1009884. PubMed ID: 35051175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Increased burden of deleterious variants in essential genes in autism spectrum disorder.
    Ji X; Kember RL; Brown CD; Bućan M
    Proc Natl Acad Sci U S A; 2016 Dec; 113(52):15054-15059. PubMed ID: 27956632
    [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. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
    Krupp DR; Barnard RA; Duffourd Y; Evans SA; Mulqueen RM; Bernier R; Rivière JB; Fombonne E; O'Roak BJ
    Am J Hum Genet; 2017 Sep; 101(3):369-390. PubMed ID: 28867142
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
    Wang L; Zhang Y; Li K; Wang Z; Wang X; Li B; Zhao G; Fang Z; Ling Z; Luo T; Xia L; Li Y; Guo H; Hu Z; Li J; Sun Z; Xia K
    Mol Autism; 2020 Oct; 11(1):75. PubMed ID: 33023636
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.
    Wang L; Zeng W; Qian Y; Sun Y; Chen M; Liu B; Hu J; Yu P; Dong M
    Mol Genet Genomic Med; 2024 Jul; 12(7):e2492. PubMed ID: 39007454
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
    Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
    Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic variants that alter protein code often disrupt splicing.
    Soemedi R; Cygan KJ; Rhine CL; Wang J; Bulacan C; Yang J; Bayrak-Toydemir P; McDonald J; Fairbrother WG
    Nat Genet; 2017 Jun; 49(6):848-855. PubMed ID: 28416821
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B; Shaw AD; Mosca R; Vivó-Luque N; Hervás A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton JM; Cormand B; Toma C
    J Psychiatry Neurosci; 2019 Sep; 44(5):350-359. PubMed ID: 31094488
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.
    Koesterich J; An JY; Inoue F; Sohota A; Ahituv N; Sanders SJ; Kreimer A
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36834916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
    Kim DS; Burt AA; Ranchalis JE; Wilmot B; Smith JD; Patterson KE; Coe BP; Li YK; Bamshad MJ; Nikolas M; Eichler EE; Swanson JM; Nigg JT; Nickerson DA; Jarvik GP;
    Am J Med Genet B Neuropsychiatr Genet; 2017 Jun; 174(4):381-389. PubMed ID: 28332277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
    Wang C; Zhou W; Huang Y; Yin H; Jin Y; Jia Z; Zhang A; Liu Z; Zheng B
    Liver Int; 2018 Aug; 38(8):1504-1513. PubMed ID: 29637721
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
    Chen R; Davis LK; Guter S; Wei Q; Jacob S; Potter MH; Cox NJ; Cook EH; Sutcliffe JS; Li B
    Mol Autism; 2017; 8():14. PubMed ID: 28344757
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.
    Boichard A; Venet L; Naas T; Boutron A; Chevret L; de Baulny HO; De Lonlay P; Legrand A; Nordman P; Brivet M
    Mol Genet Metab; 2008 Mar; 93(3):323-30. PubMed ID: 18023225
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
    Li SJ; Yu SS; Luo HY; Li X; Rao B; Wang Y; Li ZZ; Liu G; Zou LP; Zhang JS; Feng C; Liu J; Liu JW; Hu N; Chen XQ; Yu SY; Li K; He MW; Yu XG; Wang J; Guo SL; Chen ZY; Zhang L; Ma L
    Clin Chim Acta; 2018 Apr; 479():144-147. PubMed ID: 29366832
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
    Callaghan DB; Rogic S; Tan PPC; Calli K; Qiao Y; Baldwin R; Jacobson M; Belmadani M; Holmes N; Yu C; Li Y; Li Y; Kurtzke FE; Kuzeljevic B; Yu AY; Hudson M; Mcaughton AJM; Xu Y; Dionne-Laporte A; Girard S; Liang P; Separovic ER; Liu X; Rouleau G; Pavlidis P; Lewis MES
    Clin Genet; 2019 Sep; 96(3):199-206. PubMed ID: 31038196
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Paternally inherited cis-regulatory structural variants are associated with autism.
    Brandler WM; Antaki D; Gujral M; Kleiber ML; Whitney J; Maile MS; Hong O; Chapman TR; Tan S; Tandon P; Pang T; Tang SC; Vaux KK; Yang Y; Harrington E; Juul S; Turner DJ; Thiruvahindrapuram B; Kaur G; Wang Z; Kingsmore SF; Gleeson JG; Bisson D; Kakaradov B; Telenti A; Venter JC; Corominas R; Toma C; Cormand B; Rueda I; Guijarro S; Messer KS; Nievergelt CM; Arranz MJ; Courchesne E; Pierce K; Muotri AR; Iakoucheva LM; Hervas A; Scherer SW; Corsello C; Sebat J
    Science; 2018 Apr; 360(6386):327-331. PubMed ID: 29674594
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Patterns and rates of exonic de novo mutations in autism spectrum disorders.
    Neale BM; Kou Y; Liu L; Ma'ayan A; Samocha KE; Sabo A; Lin CF; Stevens C; Wang LS; Makarov V; Polak P; Yoon S; Maguire J; Crawford EL; Campbell NG; Geller ET; Valladares O; Schafer C; Liu H; Zhao T; Cai G; Lihm J; Dannenfelser R; Jabado O; Peralta Z; Nagaswamy U; Muzny D; Reid JG; Newsham I; Wu Y; Lewis L; Han Y; Voight BF; Lim E; Rossin E; Kirby A; Flannick J; Fromer M; Shakir K; Fennell T; Garimella K; Banks E; Poplin R; Gabriel S; DePristo M; Wimbish JR; Boone BE; Levy SE; Betancur C; Sunyaev S; Boerwinkle E; Buxbaum JD; Cook EH; Devlin B; Gibbs RA; Roeder K; Schellenberg GD; Sutcliffe JS; Daly MJ
    Nature; 2012 Apr; 485(7397):242-5. PubMed ID: 22495311
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High-throughput analysis revealed mutations' diverging effects on
    Souček P; Réblová K; Kramárek M; Radová L; Grymová T; Hujová P; Kováčová T; Lexa M; Grodecká L; Freiberger T
    RNA Biol; 2019 Oct; 16(10):1364-1376. PubMed ID: 31213135
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.