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 *

3032 related articles for article (PubMed ID: 25363768)

  • 1. The contribution of de novo coding mutations to autism spectrum disorder.
    Iossifov I; O'Roak BJ; Sanders SJ; Ronemus M; Krumm N; Levy D; Stessman HA; Witherspoon KT; Vives L; Patterson KE; Smith JD; Paeper B; Nickerson DA; Dea J; Dong S; Gonzalez LE; Mandell JD; Mane SM; Murtha MT; Sullivan CA; Walker MF; Waqar Z; Wei L; Willsey AJ; Yamrom B; Lee YH; Grabowska E; Dalkic E; Wang Z; Marks S; Andrews P; Leotta A; Kendall J; Hakker I; Rosenbaum J; Ma B; Rodgers L; Troge J; Narzisi G; Yoon S; Schatz MC; Ye K; McCombie WR; Shendure J; Eichler EE; State MW; Wigler M
    Nature; 2014 Nov; 515(7526):216-21. PubMed ID: 25363768
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The implications of de novo coding mutations in simplex autism families.
    Utami KH
    Clin Genet; 2015 May; 87(5):428-9. PubMed ID: 25753786
    [No Abstract]   [Full Text] [Related]  

  • 3. De novo gene disruptions in children on the autistic spectrum.
    Iossifov I; Ronemus M; Levy D; Wang Z; Hakker I; Rosenbaum J; Yamrom B; Lee YH; Narzisi G; Leotta A; Kendall J; Grabowska E; Ma B; Marks S; Rodgers L; Stepansky A; Troge J; Andrews P; Bekritsky M; Pradhan K; Ghiban E; Kramer M; Parla J; Demeter R; Fulton LL; Fulton RS; Magrini VJ; Ye K; Darnell JC; Darnell RB; Mardis ER; Wilson RK; Schatz MC; McCombie WR; Wigler M
    Neuron; 2012 Apr; 74(2):285-99. PubMed ID: 22542183
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
    Sanders SJ; Murtha MT; Gupta AR; Murdoch JD; Raubeson MJ; Willsey AJ; Ercan-Sencicek AG; DiLullo NM; Parikshak NN; Stein JL; Walker MF; Ober GT; Teran NA; Song Y; El-Fishawy P; Murtha RC; Choi M; Overton JD; Bjornson RD; Carriero NJ; Meyer KA; Bilguvar K; Mane SM; Sestan N; Lifton RP; Günel M; Roeder K; Geschwind DH; Devlin B; State MW
    Nature; 2012 Apr; 485(7397):237-41. PubMed ID: 22495306
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intellectual disability is associated with increased runs of homozygosity in simplex autism.
    Gamsiz ED; Viscidi EW; Frederick AM; Nagpal S; Sanders SJ; Murtha MT; Schmidt M; ; Triche EW; Geschwind DH; State MW; Istrail S; Cook EH; Devlin B; Morrow EM
    Am J Hum Genet; 2013 Jul; 93(1):103-9. PubMed ID: 23830515
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Synaptic, transcriptional and chromatin genes disrupted in autism.
    De Rubeis S; He X; Goldberg AP; Poultney CS; Samocha K; Cicek AE; Kou Y; Liu L; Fromer M; Walker S; Singh T; Klei L; Kosmicki J; Shih-Chen F; Aleksic B; Biscaldi M; Bolton PF; Brownfeld JM; Cai J; Campbell NG; Carracedo A; Chahrour MH; Chiocchetti AG; Coon H; Crawford EL; Curran SR; Dawson G; Duketis E; Fernandez BA; Gallagher L; Geller E; Guter SJ; Hill RS; Ionita-Laza J; Jimenz Gonzalez P; Kilpinen H; Klauck SM; Kolevzon A; Lee I; Lei I; Lei J; Lehtimäki T; Lin CF; Ma'ayan A; Marshall CR; McInnes AL; Neale B; Owen MJ; Ozaki N; Parellada M; Parr JR; Purcell S; Puura K; Rajagopalan D; Rehnström K; Reichenberg A; Sabo A; Sachse M; Sanders SJ; Schafer C; Schulte-Rüther M; Skuse D; Stevens C; Szatmari P; Tammimies K; Valladares O; Voran A; Li-San W; Weiss LA; Willsey AJ; Yu TW; Yuen RK; ; ; ; Cook EH; Freitag CM; Gill M; Hultman CM; Lehner T; Palotie A; Schellenberg GD; Sklar P; State MW; Sutcliffe JS; Walsh CA; Scherer SW; Zwick ME; Barett JC; Cutler DJ; Roeder K; Devlin B; Daly MJ; Buxbaum JD
    Nature; 2014 Nov; 515(7526):209-15. PubMed ID: 25363760
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Contribution of Mosaic Variants to Autism Spectrum Disorder.
    Freed D; Pevsner J
    PLoS Genet; 2016 Sep; 12(9):e1006245. PubMed ID: 27632392
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Copy number and sequence variants implicate APBA2 as an autism candidate gene.
    Babatz TD; Kumar RA; Sudi J; Dobyns WB; Christian SL
    Autism Res; 2009 Dec; 2(6):359-64. PubMed ID: 20029827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Low load for disruptive mutations in autism genes and their biased transmission.
    Iossifov I; Levy D; Allen J; Ye K; Ronemus M; Lee YH; Yamrom B; Wigler M
    Proc Natl Acad Sci U S A; 2015 Oct; 112(41):E5600-7. PubMed ID: 26401017
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.
    Marco EJ; Aitken AB; Nair VP; da Gente G; Gerdes MR; Bologlu L; Thomas S; Sherr EH
    BMC Med Genomics; 2018 May; 11(1):50. PubMed ID: 29801487
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population.
    Zhao X; Wang S; Hao J; Zhu P; Zhang X; Wu M
    DNA Cell Biol; 2020 Jan; 39(1):63-68. PubMed ID: 31855460
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
    O'Roak BJ; Deriziotis P; Lee C; Vives L; Schwartz JJ; Girirajan S; Karakoc E; Mackenzie AP; Ng SB; Baker C; Rieder MJ; Nickerson DA; Bernier R; Fisher SE; Shendure J; Eichler EE
    Nat Genet; 2011 Jun; 43(6):585-9. PubMed ID: 21572417
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
    Steinberg J; Webber C
    Am J Hum Genet; 2013 Nov; 93(5):825-39. PubMed ID: 24207117
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A framework for the interpretation of de novo mutation in human disease.
    Samocha KE; Robinson EB; Sanders SJ; Stevens C; Sabo A; McGrath LM; Kosmicki JA; Rehnström K; Mallick S; Kirby A; Wall DP; MacArthur DG; Gabriel SB; DePristo M; Purcell SM; Palotie A; Boerwinkle E; Buxbaum JD; Cook EH; Gibbs RA; Schellenberg GD; Sutcliffe JS; Devlin B; Roeder K; Neale BM; Daly MJ
    Nat Genet; 2014 Sep; 46(9):944-50. PubMed ID: 25086666
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rates of contributory de novo mutation in high and low-risk autism families.
    Yoon S; Munoz A; Yamrom B; Lee YH; Andrews P; Marks S; Wang Z; Reeves C; Winterkorn L; Krieger AM; Buja A; Pradhan K; Ronemus M; Baldwin KK; Levy D; Wigler M; Iossifov I
    Commun Biol; 2021 Sep; 4(1):1026. PubMed ID: 34471188
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
    Toma C; Torrico B; Hervás A; Valdés-Mas R; Tristán-Noguero A; Padillo V; Maristany M; Salgado M; Arenas C; Puente XS; Bayés M; Cormand B
    Mol Psychiatry; 2014 Jul; 19(7):784-90. PubMed ID: 23999528
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
    Robinson EB; Samocha KE; Kosmicki JA; McGrath L; Neale BM; Perlis RH; Daly MJ
    Proc Natl Acad Sci U S A; 2014 Oct; 111(42):15161-5. PubMed ID: 25288738
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
    Babbs C; Lloyd D; Pagnamenta AT; Twigg SR; Green J; McGowan SJ; Mirza G; Naples R; Sharma VP; Volpi EV; Buckle VJ; Wall SA; Knight SJ; ; Parr JR; Wilkie AO
    J Med Genet; 2014 Nov; 51(11):737-47. PubMed ID: 25228304
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 152.