SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Thompson PJ) "

Sökning: WFRF:(Thompson PJ)

  • Resultat 91-100 av 100
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
91.
  • Vijayakrishnan, J, et al. (författare)
  • Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 419-
  • Tidskriftsartikel (refereegranskat)abstract
    • The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, in the original HTML version of this Article, the order of authors within the author list was incorrect. The PRACTICAL consortium was incorrectly listed after Richard S. Houlston and should have been listed after Nora Pashayan. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
  •  
92.
  •  
93.
  •  
94.
  •  
95.
  •  
96.
  • Wang, T, et al. (författare)
  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
  • 2020
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
  • Tidskriftsartikel (refereegranskat)abstract
    • Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
  •  
97.
  •  
98.
  •  
99.
  • Thomas, HS, et al. (författare)
  • 2019
  • swepub:Mat__t
  •  
100.
  • 2021
  • swepub:Mat__t
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 91-100 av 100
Typ av publikation
tidskriftsartikel (91)
konferensbidrag (4)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (82)
övrigt vetenskapligt/konstnärligt (14)
Författare/redaktör
Thompson, PJ (24)
Andreassen, OA (18)
Boomsma, DI (18)
Thompson, PM (18)
Easton, DF (18)
Agartz, I (17)
visa fler...
Martin, NG (17)
Franke, B (17)
Lubinski, J (17)
Hottenga, JJ (16)
Zheng, W. (16)
Anton-Culver, H (16)
Giles, GG (16)
Teo, SH (16)
Fasching, PA (16)
Chang-Claude, J (16)
Dennis, J (15)
Medland, SE (15)
Southey, MC (15)
Lambrechts, D (15)
Haiman, CA (15)
Chenevix-Trench, G (15)
Westlye, LT (14)
Brenner, H (14)
Jahanshad, N (14)
Beckmann, MW (14)
Nevanlinna, H (14)
John, EM (14)
Goodman, MT (14)
Garcia-Closas, M (13)
Teixeira, MR (13)
Sellers, TA (13)
Hakonarson, H (13)
Karlan, BY (13)
Moysich, KB (13)
MCDONALD, C (12)
Nothen, MM (12)
Couch, FJ (12)
Pharoah, PDP (12)
Cybulski, C (12)
Gieger, C (12)
Pennell, CE (12)
Gronwald, J (12)
Neuhausen, SL (12)
Wentzensen, N (12)
Ramus, SJ (12)
Menon, U (12)
Doherty, JA (12)
Cook, LS (12)
Berchuck, A (12)
visa färre...
Lärosäte
Karolinska Institutet (94)
Uppsala universitet (20)
Lunds universitet (16)
Göteborgs universitet (5)
Umeå universitet (5)
Linköpings universitet (4)
visa fler...
Chalmers tekniska högskola (4)
Kungliga Tekniska Högskolan (3)
Stockholms universitet (2)
Örebro universitet (2)
Högskolan Dalarna (2)
visa färre...
Språk
Engelska (100)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (32)
Naturvetenskap (6)
Samhällsvetenskap (1)
Humaniora (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy