BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

464 related articles for article (PubMed ID: 25418537)

  • 1. Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
    O'Roak BJ; Stessman HA; Boyle EA; Witherspoon KT; Martin B; Lee C; Vives L; Baker C; Hiatt JB; Nickerson DA; Bernier R; Shendure J; Eichler EE
    Nat Commun; 2014 Nov; 5():5595. PubMed ID: 25418537
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
    Bramswig NC; Lüdecke HJ; Pettersson M; Albrecht B; Bernier RA; Cremer K; Eichler EE; Falkenstein D; Gerdts J; Jansen S; Kuechler A; Kvarnung M; Lindstrand A; Nilsson D; Nordgren A; Pfundt R; Spruijt L; Surowy HM; de Vries BB; Wieland T; Engels H; Strom TM; Kleefstra T; Wieczorek D
    Hum Genet; 2017 Feb; 136(2):179-192. PubMed ID: 27848077
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
    O'Roak BJ; Vives L; Girirajan S; Karakoc E; Krumm N; Coe BP; Levy R; Ko A; Lee C; Smith JD; Turner EH; Stanaway IB; Vernot B; Malig M; Baker C; Reilly B; Akey JM; Borenstein E; Rieder MJ; Nickerson DA; Bernier R; Shendure J; Eichler EE
    Nature; 2012 Apr; 485(7397):246-50. PubMed ID: 22495309
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
    Carvill GL; Heavin SB; Yendle SC; McMahon JM; O'Roak BJ; Cook J; Khan A; Dorschner MO; Weaver M; Calvert S; Malone S; Wallace G; Stanley T; Bye AM; Bleasel A; Howell KB; Kivity S; Mackay MT; Rodriguez-Casero V; Webster R; Korczyn A; Afawi Z; Zelnick N; Lerman-Sagie T; Lev D; Møller RS; Gill D; Andrade DM; Freeman JL; Sadleir LG; Shendure J; Berkovic SF; Scheffer IE; Mefford HC
    Nat Genet; 2013 Jul; 45(7):825-30. PubMed ID: 23708187
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo autosomal dominant mutation in SYNGAP1.
    Cook EH
    Autism Res; 2011 Apr; 4(2):155-6. PubMed ID: 21480541
    [No Abstract]   [Full Text] [Related]  

  • 6. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
    Berryer MH; Hamdan FF; Klitten LL; Møller RS; Carmant L; Schwartzentruber J; Patry L; Dobrzeniecka S; Rochefort D; Neugnot-Cerioli M; Lacaille JC; Niu Z; Eng CM; Yang Y; Palardy S; Belhumeur C; Rouleau GA; Tommerup N; Immken L; Beauchamp MH; Patel GS; Majewski J; Tarnopolsky MA; Scheffzek K; Hjalgrim H; Michaud JL; Di Cristo G
    Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
    Hamdan FF; Daoud H; Piton A; Gauthier J; Dobrzeniecka S; Krebs MO; Joober R; Lacaille JC; Nadeau A; Milunsky JM; Wang Z; Carmant L; Mottron L; Beauchamp MH; Rouleau GA; Michaud JL
    Biol Psychiatry; 2011 May; 69(9):898-901. PubMed ID: 21237447
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.
    Kong SW; Shimizu-Motohashi Y; Campbell MG; Lee IH; Collins CD; Brewster SJ; Holm IA; Rappaport L; Kohane IS; Kunkel LM
    Neurogenetics; 2013 May; 14(2):143-52. PubMed ID: 23625158
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. The genetics of autism.
    Muhle R; Trentacoste SV; Rapin I
    Pediatrics; 2004 May; 113(5):e472-86. PubMed ID: 15121991
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V; Mandora A; Botre A; Clement JP
    Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.
    Julie G; Hamdan FF; Rouleau GA
    J Vis Exp; 2011 Jun; (52):. PubMed ID: 21712793
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recent ultra-rare inherited variants implicate new autism candidate risk genes.
    Wilfert AB; Turner TN; Murali SC; Hsieh P; Sulovari A; Wang T; Coe BP; Guo H; Hoekzema K; Bakken TE; Winterkorn LH; Evani US; Byrska-Bishop M; Earl RK; Bernier RA; ; Zody MC; Eichler EE
    Nat Genet; 2021 Aug; 53(8):1125-1134. PubMed ID: 34312540
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
    Dou Y; Yang X; Li Z; Wang S; Zhang Z; Ye AY; Yan L; Yang C; Wu Q; Li J; Zhao B; Huang AY; Wei L
    Hum Mutat; 2017 Aug; 38(8):1002-1013. PubMed ID: 28503910
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK.
    Venkataraman GR; O'Connell C; Egawa F; Kashef-Haghighi D; Wall DP
    Pac Symp Biocomput; 2017; 22():521-532. PubMed ID: 27897003
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.