Featured
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An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes
- Zachary F. Gerring
- , Jackson G. Thorp
- & Eske M. Derks
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Brief Communication |
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
- Samantha J. Bryen
- , Emily C. Oates
- & Sandra T. Cooper
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The Marquesans at the fringes of the Austronesian expansion
- Leire Palencia-Madrid
- , Miriam Baeta
- & Rene J. Herrera
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Trans-eQTLs identified in whole blood have limited influence on complex disease biology
- Chloe X Yap
- , Luke Lloyd-Jones
- & Joseph E Powell
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Article
| Open AccessDeep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
- Richard JLF Lemmers
- , Patrick J van der Vliet
- & Silvère M van der Maarel
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Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas
- Michal Kabza
- , Justyna A Karolak
- & Marzena Gajecka
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Comparative transcriptome analysis of muscular dystrophy models Largemyd, Dmdmdx/Largemyd and Dmdmdx: what makes them different?
- Camila F Almeida
- , Poliana CM Martins
- & Mariz Vainzof
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FTO levels affect RNA modification and the transcriptome
- Tea Berulava
- , Matthias Ziehe
- & Bernhard Horsthemke
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An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction
- Rosario Michael Piro
- , Ugo Ala
- & Ferdinando Di Cunto
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Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease
- Åsa Johansson
- , Joanne E Curran
- & John Blangero