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Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate
- Marga Nijenhuis
- , Bianca Soree
- & Arne Risselada
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Examination of a novel expression-based gene-SNP annotation strategy to identify tissue-specific contributions to heritability in multiple traits
- Travis J. Mize
- & Luke M. Evans
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| Open AccessIdentification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study
- Stefan Konigorski
- , Jürgen Janke
- & Tobias Pischon
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Article
| Open AccessA unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
- Alessandra Sironi
- , Ilaria Bestetti
- & Palma Finelli
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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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Human mitochondrial RNA modifications associate with tissue-specific changes in gene expression, and are affected by sunlight and UV exposure
- Tal Cohen
- , Hadar Medini
- & Dan Mishmar
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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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Article
| Open AccessA novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
- Elisa Rahikkala
- , Lea Urpa
- & Outi Kuismin
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Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants
- Chiara E. Cotroneo
- , Nunzia Mangano
- & Francesca Colombo
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Article
| Open AccessIdentification of distinct transcriptome signatures of human adipose tissue from fifteen depots
- Dorit Schleinitz
- , Kerstin Krause
- & Anke Tönjes
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Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization
- Aziz Belkadi
- , Gaurav Thareja
- & Karsten Suhre
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Brief Communication
| Open AccessIs HSPG2 a modifier gene for Marfan syndrome?
- Isabela Gerdes Gyuricza
- , Rodrigo Barbosa de Souza
- & Lygia Veiga Pereira
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Comment |
Transcript-specific regulation in T-cells in multiple sclerosis susceptibility
- Lies Van Horebeek
- & An Goris
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Transcript specific regulation of expression influences susceptibility to multiple sclerosis
- Maria Ban
- , Wenjia Liao
- & Stephen Sawcer
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Article
| Open AccessThe functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate
- Dandan Li
- , Guirong Zhu
- & Lin Wang
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A characterization of cis- and trans-heritability of RNA-Seq-based gene expression
- Klaasjan G. Ouwens
- , Rick Jansen
- & Dorret I. Boomsma
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Article
| Open AccessBiological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects
- Akira Mizuno
- & Yukinori Okada
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Article
| Open AccessSplice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression
- Iván Pérez-Núñez
- , Mohamad Karaky
- & Antonio Alcina
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Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology
- Zahra Razaghi-Moghadam
- , Atefeh Namipashaki
- & Naser Ansari-Pour
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Article
| Open AccessComparison of methods for transcriptome imputation through application to two common complex diseases
- James J. Fryett
- , Jamie Inshaw
- & Heather J. Cordell
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Brief Communication |
Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes
- Yan Ge
- & Patrick Concannon
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Improved estimation of SNP heritability using Bayesian multiple-phenotype models
- Najla Saad Elhezzani
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Article
| Open AccessUnderstanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics
- Ivana Nedeljkovic
- , Elena Carnero-Montoro
- & Najaf Amin
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Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?
- Molka Kammoun
- , Paul Brady
- & Joris Robert Vermeesch
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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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Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
- Bülent Kara
- , Çiğdem Köroğlu
- & Aslıhan Tolun
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Article
| Open AccessA splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria
- Fuencisla Matesanz
- , María Fedetz
- & Antonio Alcina
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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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Article |
Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy
- Gaël Nicolas
- , David Wallon
- & Anne Rovelet-Lecrux
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Article |
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
- Silvia Moncini
- , Maria Teresa Bonati
- & Paola Riva
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Article
| Open AccessHuntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood
- Anastasios Mastrokolias
- , Yavuz Ariyurek
- & Willeke MC van Roon-Mom
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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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News and Commentary |
A new mutation in GFAP widens the spectrum of Alexander disease
- Michael Brenner
- & Albee Messing
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Article |
Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
- Sarah Wettstein
- , Jarl Underhaug
- & Nenad Blau
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Article |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
- Gabriella Livide
- , Tommaso Patriarchi
- & Ilaria Meloni
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Population-level expression variability of mitochondrial DNA-encoded genes in humans
- Gang Wang
- , Ence Yang
- & James J Cai
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THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge
- Constanza Bondar
- , Leticia Plaza-Izurieta
- & Jose Ramon Bilbao
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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ
- André Mégarbané
- , Florian Noguier
- & David Piquemal
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Short Report |
Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655
- Helle Bach Søndergaard
- , Finn Sellebjerg
- & Annette Bang Oturai
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Short Report |
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
- Alex S Nord
- , Wendy Roeb
- & Jon M McClellan
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Article |
Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis
- Marina Korotkova
- , Nina A Daha
- & Leonid Padyukov
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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development
- Elizabeth J Bhoj
- , Purita Ramos
- & Andrew R Zinn
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Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction
- Simone Diekmann
- , Marco Henneke
- & Jutta Gärtner
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Short Report |
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
- Alessandra Pontillo
- , Elisa Paoluzzi
- & Sergio Crovella
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Book Review |
‘Me, Myself, and Why. Understanding your own genome and evolutionary history’
- Peter de Knijff
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Short Report |
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
- Muhammad Farooq
- , Jesper T Troelsen
- & Klaus W Kjaer