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Small effective population size and genetic homogeneity in the Val Borbera isolate
- Vincenza Colonna
- , Giorgio Pistis
- & Daniela Toniolo
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Article |
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
- Valentina Guida
- , Rosangela Ferese
- & Alessandro De Luca
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Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood
- Divya Mehta
- , Katharina Heim
- & Holger Prokisch
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Article
| Open AccessIntravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy
- Naomi Chadderton
- , Arpad Palfi
- & G Jane Farrar
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Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression
- Ina Schmitt
- , Ullrich Wüllner
- & Alfredo Ramirez
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Short Report |
Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B
- Friederike Flachsbart
- , Michael Möller
- & Almut Nebel
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Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating
- Rachel H Flomen
- , Madiha Shaikh
- & Elvira Bramon
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Article
| Open AccessCNVs leading to fusion transcripts in individuals with autism spectrum disorder
- Richard Holt
- , Nuala H Sykes
- & Alistair T Pagnamenta
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Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets
- Lisa de las Fuentes
- , Wei Yang
- & C Charles Gu
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Short Report |
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
- Nadége Bondurand
- , Virginie Fouquet
- & Veronique Pingault
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Article |
Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
- Helen AL Tuppen
- , Karin Naess
- & Robert McFarland
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The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees
- Hong Chen
- , Jing Zheng
- & Min-Xin Guan
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Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators
- Patrícia Oliveira
- , Remo Sanges
- & Carla Oliveira
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Article |
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
- Jill A Rosenfeld
- , Ryan N Traylor
- & Arthur S Aylsworth
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Article |
Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis
- Valentina Moskvina
- , Karl M Schmidt
- & Michael C O'Donovan
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Short Report |
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data
- Jie Huang
- , David Ellinghaus
- & Yun Li
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Association between survivin −31G>C promoter polymorphism and cancer risk: a meta-analysis
- Xiefeng Wang
- , Lili Huang
- & Yongping You
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Article |
A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene
- Håkan Lövkvist
- , Sandra Olsson
- & Arne Lindgren
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Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures
- Niklas R Jørgensen
- , Lise B Husted
- & James S Wiley
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Short Report |
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
- Nasim Vasli
- , Vincent Laugel
- & Jocelyn Laporte
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Article
| Open AccessA two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility
- Yadav Sapkota
- , Paula Robson
- & Sambasivarao Damaraju
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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
- Elizna M van der Walt
- , Izelle Smuts
- & Francois H van der Westhuizen
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Discovery of variants unmasked by hemizygous deletions
- Ron Hochstenbach
- , Martin Poot
- & Edwin Cuppen
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Low prevalence of lactase persistence in Neolithic South-West Europe
- Theo S Plantinga
- , Santos Alonso
- & Concepcion de la Rúa
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Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
- Abraham Kuot
- , Alex W Hewitt
- & Kathryn P Burdon
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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
- Andrée Delahaye
- , Pierre Bitoun
- & Brigitte Benzacken
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Article
| Open AccessPolymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women
- Alison Gartland
- , Kristen K Skarratt
- & James S Wiley
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Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis
- Marie-Claude Babron
- , Hervé Perdry
- & Françoise Clerget-Darpoux
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Maternally inherited mitochondrial DNA disease in consanguineous families
- Charlotte L Alston
- , Langping He
- & Robert W Taylor
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Article
| Open AccessThe tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
- Zhongqiu Lu
- , Hong Chen
- & Min-Xin Guan
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Article
| Open AccessAssessing the pathological relevance of SPINK1 promoter variants
- Arnaud Boulling
- , Heiko Witt
- & Claude Férec
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Letter |
The causality of de novo copy number variants is overestimated
- Joris R Vermeesch
- , Irina Balikova
- & Koenraad Devriendt
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Article |
High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences
- Anna Schönberg
- , Christoph Theunert
- & Ivan Nasidze
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Short Report |
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes
- Irene Madrigal
- , Mar Xunclà
- & Montserrat Milà
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Short Report
| Open AccessThe GENCODE exome: sequencing the complete human exome
- Alison J Coffey
- , Felix Kokocinski
- & Aarno Palotie
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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
- Helen Swalwell
- , Denise M Kirby
- & David R Thorburn
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Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia
- Claudio Ottoni
- , François-X Ricaut
- & Ronny Decorte
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Article
| Open AccessExperiences with array-based sequence capture; toward clinical applications
- Rowida Almomani
- , Jaap van der Heijden
- & Johan T den Dunnen
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Short Report |
Genomic analysis of partial 21q monosomies with variable phenotypes
- Elisha D O Roberson
- , Elizabeth Squibb Wohler
- & Jonathan Pevsner
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Article |
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome
- Mandy Krumbiegel
- , Francesca Pasutto
- & André Reis
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Short Report |
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression
- Mohammad M Al-Qattan
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Short Report |
5q11.2 deletion in a patient with tracheal agenesis
- Elisabeth M de Jong
- , Hannie Douben
- & Annelies de Klein
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High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
- Veronica Parri
- , Eleni Katzaki
- & Francesca Ariani
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A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-α levels
- Steffan D Bos
- , Nico Lakenberg
- & P Eline Slagboom
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A sequence variant on 17q21 is associated with age at onset and severity of asthma
- Eva Halapi
- , Daniel F Gudbjartsson
- & Kari Stefansson
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TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?
- Bernard Bonaïti
- , Malin Olsson
- & Violaine Planté-Bordeneuve
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Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel
- Luísa Pereira
- , Viktor Černý
- & Antonio Salas
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Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk
- María L Cavanillas
- , Antonio Alcina
- & Elena Urcelay
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Book Review |
‘Me, Myself, and Why. Understanding your own genome and evolutionary history’
- Peter de Knijff