Featured
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Copy number variants in patients with short stature
- Hermine A van Duyvenvoorde
- , Julian C Lui
- & Jan M Wit
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Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2
- Christine Tyson
- , Andrew J Sharp
- & John CK Barber
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Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-associated expression QTL Vanin-1
- Belinda J Kaskow
- , Luke A Diepeveen
- & Lawrence J Abraham
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Short Report |
Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances
- Wei Q Deng
- , Senay Asma
- & Guillaume Paré
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Article |
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
- Cécile Rouzier
- , Annabelle Chaussenot
- & Véronique Paquis-Flucklinger
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The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility
- Hicham Charoute
- , Halima Nahili
- & Abdelhamid Barakat
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Short Report |
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
- Alžběta Vondráčková
- , Kateřina Veselá
- & Markéta Tesařová
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Review |
Atrial fibrillation: the role of common and rare genetic variants
- Morten S Olesen
- , Morten W Nielsen
- & Jesper H Svendsen
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Article |
Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region
- Frederick Delfin
- , Albert Min-Shan Ko
- & Mark Stoneking
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Article |
Accurate prediction of a minimal region around a genetic association signal that contains the causal variant
- Zoltán Bochdanovits
- , Javier Simón-Sánchez
- & Peter Heutink
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Viewpoint |
Secondary variants – in defense of a more fitting term in the incidental findings debate
- Gabrielle M Christenhusz
- , Koenraad Devriendt
- & Kris Dierickx
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Short Report |
Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources
- Erin M Ramos
- , Douglas Hoffman
- & Lucia A Hindorff
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Rare copy number variation in cerebral palsy
- Gai McMichael
- , Santhosh Girirajan
- & Alastair MacLennan
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Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
- Michelle B Polan
- , Matthew T Pastore
- & Kim L McBride
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Article
| Open AccessCombined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- Joanna Wiszniewska
- , Weimin Bi
- & Ankita Patel
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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
- Caroline Nava
- , Boris Keren
- & Christel Depienne
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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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Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example
- Micaela Poetsch
- , Aline Wiegand
- & Nicole von Wurmb-Schwark
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Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours
- Juliette Aury-Landas
- , Gaëlle Bougeard
- & Jean-Michel Flaman
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Short Report |
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A
- Thomas von Kanel
- , Frauke Stanke
- & Sabina Gallati
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Article
| Open AccessEvidence for anticipation in Beckwith–Wiedemann syndrome
- Siren Berland
- , Mia Appelbäck
- & Gunnar Houge
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A global map for dissecting phenotypic variants in human lincRNAs
- Shangwei Ning
- , Peng Wang
- & Xia Li
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Meiotic gene-conversion rate and tract length variation in the human genome
- Badri Padhukasahasram
- & Bruce Rannala
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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
- Blanka Stiburkova
- , Ivan Sebesta
- & Helena Jahnova
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Mosaic copy number variation in schizophrenia
- Douglas M Ruderfer
- , Kim Chambert
- & Carl Ernst
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Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes
- Pablo R Moya
- , Nicholas H Dodman
- & Jens R Wendland
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Short Report |
Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals
- Martin Ladouceur
- , Hou-Feng Zheng
- & J Brent Richards
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Article |
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification
- Elena Sommariva
- , Carlo Pappone
- & Sara Benedetti
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Article
| Open AccessGenetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
- Tõnu Esko
- , Massimo Mezzavilla
- & Pio D'Adamo
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Article |
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene
- Ivo Barić
- , Ksenija Fumić
- & Johannes A Mayr
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Low-density lipoprotein receptor mutations generate synthetic genome-wide associations
- Daniëlla M Oosterveer
- , Jorie Versmissen
- & Eric J G Sijbrands
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Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
- Magdalena Harakalova
- , Jasper van der Smagt
- & Annette F Baas
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Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome
- Fernando Bellido
- , Elisabet Guinó
- & Laura Valle
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Short Report |
WikiGWA: an open platform for collecting and using genome-wide association results
- Jie Huang
- , Eric Y Liu
- & Yun Li
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Article
| Open AccessA rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression
- Andrew W Dodd
- , Catherine M Syddall
- & John Loughlin
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Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia
- Chiara Barbieri
- , Anne Butthof
- & Brigitte Pakendorf
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Article |
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
- Seema R Lalani
- , Chad Shaw
- & John W Belmont
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Letter
| Open AccessDual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder
- Dianne F Newbury
- , Francesca Mari
- & Samantha J L Knight
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Article |
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development
- David M Alvarado
- , Jillian G Buchan
- & Christina A Gurnett
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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
- Luigi Boccuto
- , Maria Lauri
- & Charles E Schwartz
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Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
- Franziska M Gisler
- , Thomas von Kanel
- & Sabina Gallati
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Short Report |
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
- Sandesh C S Nagamani
- , Ayelet Erez
- & Sau Wai Cheung
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Article |
FTO levels affect RNA modification and the transcriptome
- Tea Berulava
- , Matthias Ziehe
- & Bernhard Horsthemke
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Article |
16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
- John C K Barber
- , Victoria Hall
- & Helen White
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Short Report |
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy
- Sara Roos
- , Niklas Darin
- & Anders Oldfors
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Article |
Using identity by descent estimation with dense genotype data to detect positive selection
- Lide Han
- & Mark Abney
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Article |
Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation
- Li Luo
- , Yun Zhu
- & Momiao Xiong
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Letter |
Do regulatory regions matter in FOXG1 duplications?
- Antonio Falace
- , Nicola Vanni
- & Federico Zara
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Article |
Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms
- Vandana Shashi
- , Alan Francis
- & Matcheri S Keshavan