165 related articles for article (PubMed ID: 31604926)
1. Contribution of retrotransposition to developmental disorders.
Gardner EJ; Prigmore E; Gallone G; Danecek P; Samocha KE; Handsaker J; Gerety SS; Ironfield H; Short PJ; Sifrim A; Singh T; Chandler KE; Clement E; Lachlan KL; Prescott K; Rosser E; FitzPatrick DR; Firth HV; Hurles ME
Nat Commun; 2019 Oct; 10(1):4630. PubMed ID: 31604926
[TBL] [Abstract][Full Text] [Related]
2. Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Kaplanis J; Akawi N; Gallone G; McRae JF; Prigmore E; Wright CF; Fitzpatrick DR; Firth HV; Barrett JC; Hurles ME;
Genome Res; 2019 Jul; 29(7):1047-1056. PubMed ID: 31227601
[TBL] [Abstract][Full Text] [Related]
3. Pathogenicity and selective constraint on variation near splice sites.
Lord J; Gallone G; Short PJ; McRae JF; Ironfield H; Wynn EH; Gerety SS; He L; Kerr B; Johnson DS; McCann E; Kinning E; Flinter F; Temple IK; Clayton-Smith J; McEntagart M; Lynch SA; Joss S; Douzgou S; Dabir T; Clowes V; McConnell VPM; Lam W; Wright CF; FitzPatrick DR; Firth HV; Barrett JC; Hurles ME;
Genome Res; 2019 Feb; 29(2):159-170. PubMed ID: 30587507
[TBL] [Abstract][Full Text] [Related]
4. De novo mutations in regulatory elements in neurodevelopmental disorders.
Short PJ; McRae JF; Gallone G; Sifrim A; Won H; Geschwind DH; Wright CF; Firth HV; FitzPatrick DR; Barrett JC; Hurles ME
Nature; 2018 Mar; 555(7698):611-616. PubMed ID: 29562236
[TBL] [Abstract][Full Text] [Related]
5. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Wright CF; Quaife NM; Ramos-Hernández L; Danecek P; Ferla MP; Samocha KE; Kaplanis J; Gardner EJ; Eberhardt RY; Chao KR; Karczewski KJ; Morales J; Gallone G; Balasubramanian M; Banka S; Gompertz L; Kerr B; Kirby A; Lynch SA; Morton JEV; Pinz H; Sansbury FH; Stewart H; Zuccarelli BD; ; Cook SA; Taylor JC; Juusola J; Retterer K; Firth HV; Hurles ME; Lara-Pezzi E; Barton PJR; Whiffin N
Am J Hum Genet; 2021 Jun; 108(6):1083-1094. PubMed ID: 34022131
[TBL] [Abstract][Full Text] [Related]
6. Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J; Samocha KE; Wiel L; Zhang Z; Arvai KJ; Eberhardt RY; Gallone G; Lelieveld SH; Martin HC; McRae JF; Short PJ; Torene RI; de Boer E; Danecek P; Gardner EJ; Huang N; Lord J; Martincorena I; Pfundt R; Reijnders MRF; Yeung A; Yntema HG; ; Vissers LELM; Juusola J; Wright CF; Brunner HG; Firth HV; FitzPatrick DR; Barrett JC; Hurles ME; Gilissen C; Retterer K
Nature; 2020 Oct; 586(7831):757-762. PubMed ID: 33057194
[TBL] [Abstract][Full Text] [Related]
7. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
Ku CS; Polychronakos C; Tan EK; Naidoo N; Pawitan Y; Roukos DH; Mort M; Cooper DN
Mol Psychiatry; 2013 Feb; 18(2):141-53. PubMed ID: 22641181
[TBL] [Abstract][Full Text] [Related]
8. Landscape and variation of novel retroduplications in 26 human populations.
Zhang Y; Li S; Abyzov A; Gerstein MB
PLoS Comput Biol; 2017 Jun; 13(6):e1005567. PubMed ID: 28662076
[TBL] [Abstract][Full Text] [Related]
9. Structure and expression of mobile ETnII retroelements and their coding-competent MusD relatives in the mouse.
Baust C; Gagnier L; Baillie GJ; Harris MJ; Juriloff DM; Mager DL
J Virol; 2003 Nov; 77(21):11448-58. PubMed ID: 14557630
[TBL] [Abstract][Full Text] [Related]
10. Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division.
Abyzov A; Iskow R; Gokcumen O; Radke DW; Balasubramanian S; Pei B; Habegger L; ; Lee C; Gerstein M
Genome Res; 2013 Dec; 23(12):2042-52. PubMed ID: 24026178
[TBL] [Abstract][Full Text] [Related]
11. A map of constrained coding regions in the human genome.
Havrilla JM; Pedersen BS; Layer RM; Quinlan AR
Nat Genet; 2019 Jan; 51(1):88-95. PubMed ID: 30531870
[TBL] [Abstract][Full Text] [Related]
12. Large Genetic Study Uncovers 14 New Genes Responsible for Developmental Disorders in Children.
McBride DL
J Pediatr Nurs; 2017; 35():1-2. PubMed ID: 28728758
[TBL] [Abstract][Full Text] [Related]
13. Frequency of recent retrotransposition events in the human factor IX gene.
Li X; Scaringe WA; Hill KA; Roberts S; Mengos A; Careri D; Pinto MT; Kasper CK; Sommer SS
Hum Mutat; 2001 Jun; 17(6):511-9. PubMed ID: 11385709
[TBL] [Abstract][Full Text] [Related]
14. SV40 large T antigen up-regulates the retrotransposition frequency of viral-like 30 elements.
Noutsopoulos D; Vartholomatos G; Kolaitis N; Tzavaras T
J Mol Biol; 2006 Aug; 361(3):450-61. PubMed ID: 16859708
[TBL] [Abstract][Full Text] [Related]
15. De novo retrotransposition of unbiased sequences in a human breast cancer cell clone.
Werle-Schneider G; von Brevern MC; Sylla BS; Hollstein MC
Genes Chromosomes Cancer; 1999 Sep; 26(1):84-91. PubMed ID: 10441010
[TBL] [Abstract][Full Text] [Related]
16. Genomically Aided Diagnosis of Severe Developmental Disorders.
FitzPatrick DR; Firth HV
Annu Rev Genomics Hum Genet; 2020 Aug; 21():327-349. PubMed ID: 32421356
[TBL] [Abstract][Full Text] [Related]
17. Ty1 copy number dynamics in Saccharomyces.
Garfinkel DJ; Nyswaner KM; Stefanisko KM; Chang C; Moore SP
Genetics; 2005 Apr; 169(4):1845-57. PubMed ID: 15687270
[TBL] [Abstract][Full Text] [Related]
18. Involvement of Conserved Amino Acids in the C-Terminal Region of LINE-1 ORF2p in Retrotransposition.
Christian CM; Sokolowski M; deHaro D; Kines KJ; Belancio VP
Genetics; 2017 Mar; 205(3):1139-1149. PubMed ID: 28100588
[TBL] [Abstract][Full Text] [Related]
19. Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes.
Georgiou I; Noutsopoulos D; Dimitriadou E; Markopoulos G; Apergi A; Lazaros L; Vaxevanoglou T; Pantos K; Syrrou M; Tzavaras T
Hum Mol Genet; 2009 Apr; 18(7):1221-8. PubMed ID: 19147684
[TBL] [Abstract][Full Text] [Related]
20. L1 retrotransposons and somatic mosaicism in the brain.
Richardson SR; Morell S; Faulkner GJ
Annu Rev Genet; 2014; 48():1-27. PubMed ID: 25036377
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]