BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

612 related articles for article (PubMed ID: 23260136)

  • 1. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
    Michaelson JJ; Shi Y; Gujral M; Zheng H; Malhotra D; Jin X; Jian M; Liu G; Greer D; Bhandari A; Wu W; Corominas R; Peoples A; Koren A; Gore A; Kang S; Lin GN; Estabillo J; Gadomski T; Singh B; Zhang K; Akshoomoff N; Corsello C; McCarroll S; Iakoucheva LM; Li Y; Wang J; Sebat J
    Cell; 2012 Dec; 151(7):1431-42. PubMed ID: 23260136
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
    Belyeu JR; Brand H; Wang H; Zhao X; Pedersen BS; Feusier J; Gupta M; Nicholas TJ; Brown J; Baird L; Devlin B; Sanders SJ; Jorde LB; Talkowski ME; Quinlan AR
    Am J Hum Genet; 2021 Apr; 108(4):597-607. PubMed ID: 33675682
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
    Jónsson H; Sulem P; Kehr B; Kristmundsdottir S; Zink F; Hjartarson E; Hardarson MT; Hjorleifsson KE; Eggertsson HP; Gudjonsson SA; Ward LD; Arnadottir GA; Helgason EA; Helgason H; Gylfason A; Jonasdottir A; Jonasdottir A; Rafnar T; Frigge M; Stacey SN; Th Magnusson O; Thorsteinsdottir U; Masson G; Kong A; Halldorsson BV; Helgason A; Gudbjartsson DF; Stefansson K
    Nature; 2017 Sep; 549(7673):519-522. PubMed ID: 28959963
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Strong association of de novo copy number mutations with autism.
    Sebat J; Lakshmi B; Malhotra D; Troge J; Lese-Martin C; Walsh T; Yamrom B; Yoon S; Krasnitz A; Kendall J; Leotta A; Pai D; Zhang R; Lee YH; Hicks J; Spence SJ; Lee AT; Puura K; Lehtimäki T; Ledbetter D; Gregersen PK; Bregman J; Sutcliffe JS; Jobanputra V; Chung W; Warburton D; King MC; Skuse D; Geschwind DH; Gilliam TC; Ye K; Wigler M
    Science; 2007 Apr; 316(5823):445-9. PubMed ID: 17363630
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing.
    Tatsumoto S; Go Y; Fukuta K; Noguchi H; Hayakawa T; Tomonaga M; Hirai H; Matsuzawa T; Agata K; Fujiyama A
    Sci Rep; 2017 Nov; 7(1):13561. PubMed ID: 29093469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genome-wide patterns and properties of de novo mutations in humans.
    Francioli LC; Polak PP; Koren A; Menelaou A; Chun S; Renkens I; ; van Duijn CM; Swertz M; Wijmenga C; van Ommen G; Slagboom PE; Boomsma DI; Ye K; Guryev V; Arndt PF; Kloosterman WP; de Bakker PIW; Sunyaev SR
    Nat Genet; 2015 Jul; 47(7):822-826. PubMed ID: 25985141
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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. 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]  

  • 10. Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.
    Yap CX; Alvares GA; Henders AK; Lin T; Wallace L; Farrelly A; McLaren T; Berry J; Vinkhuyzen AAE; Trzaskowski M; Zeng J; Yang Y; Cleary D; Grove R; Hafekost C; Harun A; Holdsworth H; Jellett R; Khan F; Lawson L; Leslie J; Levis Frenk M; Masi A; Mathew NE; Muniandy M; Nothard M; Visscher PM; Dawson PA; Dissanayake C; Eapen V; Heussler HS; Whitehouse AJO; Wray NR; Gratten J
    Mol Autism; 2021 Feb; 12(1):12. PubMed ID: 33568206
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.
    Yehia L; Seyfi M; Niestroj LM; Padmanabhan R; Ni Y; Frazier TW; Lal D; Eng C
    JAMA Netw Open; 2020 Jan; 3(1):e1920415. PubMed ID: 32003824
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genomic Patterns of De Novo Mutation in Simplex Autism.
    Turner TN; Coe BP; Dickel DE; Hoekzema K; Nelson BJ; Zody MC; Kronenberg ZN; Hormozdiari F; Raja A; Pennacchio LA; Darnell RB; Eichler EE
    Cell; 2017 Oct; 171(3):710-722.e12. PubMed ID: 28965761
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
    Woodbury-Smith M; Zarrei M; Wei J; Thiruvahindrapuram B; O'Connor I; Paterson AD; Yuen RKC; Dastan J; Stavropoulos DJ; Howe JL; Thompson A; Parlier M; Fernandez B; Piven J; Anagnostou E; Scherer SW; Vieland VJ; Szatmari P
    Am J Med Genet B Neuropsychiatr Genet; 2020 Jul; 183(5):268-276. PubMed ID: 32372567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.
    Ku CS; Tan EK; Cooper DN
    J Med Genet; 2013 Apr; 50(4):203-11. PubMed ID: 23396985
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
    Bi C; Wu J; Jiang T; Liu Q; Cai W; Yu P; Cai T; Zhao M; Jiang YH; Sun ZS
    Hum Mutat; 2012 Dec; 33(12):1635-8. PubMed ID: 22865819
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Using whole-exome sequencing to identify inherited causes of autism.
    Yu TW; Chahrour MH; Coulter ME; Jiralerspong S; Okamura-Ikeda K; Ataman B; Schmitz-Abe K; Harmin DA; Adli M; Malik AN; D'Gama AM; Lim ET; Sanders SJ; Mochida GH; Partlow JN; Sunu CM; Felie JM; Rodriguez J; Nasir RH; Ware J; Joseph RM; Hill RS; Kwan BY; Al-Saffar M; Mukaddes NM; Hashmi A; Balkhy S; Gascon GG; Hisama FM; LeClair E; Poduri A; Oner O; Al-Saad S; Al-Awadi SA; Bastaki L; Ben-Omran T; Teebi AS; Al-Gazali L; Eapen V; Stevens CR; Rappaport L; Gabriel SB; Markianos K; State MW; Greenberg ME; Taniguchi H; Braverman NE; Morrow EM; Walsh CA
    Neuron; 2013 Jan; 77(2):259-73. PubMed ID: 23352163
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rate of de novo mutations and the importance of father's age to disease risk.
    Kong A; Frigge ML; Masson G; Besenbacher S; Sulem P; Magnusson G; Gudjonsson SA; Sigurdsson A; Jonasdottir A; Jonasdottir A; Wong WS; Sigurdsson G; Walters GB; Steinberg S; Helgason H; Thorleifsson G; Gudbjartsson DF; Helgason A; Magnusson OT; Thorsteinsdottir U; Stefansson K
    Nature; 2012 Aug; 488(7412):471-5. PubMed ID: 22914163
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
    Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 31.