Featured
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Brief Communication |
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
- Esra Yıldız Bölükbaşı
- , Justyna A. Karolak
- & Paweł Stankiewicz
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Article |
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor
- Melis A. Aksit
- , Bo Yu
- & Barbara R. Migeon
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Brief Communication |
A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?
- Aristeidis Giannakopoulos
- , Amalia Sertedaki
- & Dionisios Chrysis
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Article |
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
- Jiyong Wang
- , Aidin Foroutan
- & Roger E. Stevenson
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Article |
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
- Bilal El Waly
- , Cécile Mignon-Ravix
- & Laurent Villard
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Article
| Open AccessA rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
- Fabiana H. G. Farias
- , Johanna Dahlqvist
- & Kerstin Lindblad-Toh
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Article
| Open AccessFunctional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex
- Anup K. Nair
- , Jeff R. Sutherland
- & Leslie J. Baier
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Article |
Regulatory variants of FOXG1 in the context of its topological domain organisation
- Mana M Mehrjouy
- , Ana Carolina S. Fonseca
- & Niels Tommerup
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Article |
Reduced blood pressure after smooth muscle EFNB2 deletion and the potential association of EFNB2 mutation with human hypertension risk
- Yujia Wang
- , Pavel Hamet
- & Jiangping Wu
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Article |
EIF3G is associated with narcolepsy across ethnicities
- Anja Holm
- , Ling Lin
- & Birgitte R Kornum
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Article |
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
- Annalisa Vetro
- , Mohammad Reza Dehghani
- & Orsetta Zuffardi
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Article
| Open AccessFunctional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia
- Amna Khamis
- , Jutta Palmen
- & Steve E Humphries
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Short Report |
Allele-specific regulation of DISC1 expression by miR-135b-5p
- Mari Rossi
- , Helena Kilpinen
- & Iiris Hovatta
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Letter |
From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression
- Martin P Horan
- , Neil J Gemmell
- & Jonci N Wolff
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Article |
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O
- Madalina Raducu
- , Jonathan Baets
- & Jesús Cruces
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Article |
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability
- Eva Also-Rallo
- , Laura Alías
- & Eduardo F Tizzano
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Article |
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)
- Hanna Västinsalo
- , Reetta Jalkanen
- & Eeva-Marja Sankila
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Article |
Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity
- Virginia Boccardi
- , Immacolata Ambrosino
- & Michelangela Barbieri
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Article |
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
- Duncan B Sparrow
- , David Sillence
- & Sally L Dunwoodie