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Article
| Open AccessThe human genome harbours widespread exclusive yin yang haplotypes
- David Curtis
- & William Amos
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Comment |
Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis
- Hiroyuki Ishiyama
- & Masafumi Ihara
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Brief Communication |
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
- Qifei Li
- , Rohan Agrawal
- & Pankaj B. Agrawal
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Article |
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
- Le Guo
- , Bob P. H. Engelen
- & Mike Gerards
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Article |
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
- Anne-Mai Ilumäe
- , Helen Post
- & Richard Villems
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Article
| Open AccessNatural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
- Beatrice Spedicati
- , Massimiliano Cocca
- & Giorgia Girotto
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Article
| Open AccessLong-read trio sequencing of individuals with unsolved intellectual disability
- Marc Pauper
- , Erdi Kucuk
- & Christian Gilissen
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Correspondence
| Open AccessSequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene
- Marta Diñeiro
- , Guadalupe A. Cifuentes
- & Juan Cadiñanos
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Article
| Open AccessCopy number variants in lipid metabolism genes are associated with gallstones disease in men
- Eduardo Pérez-Palma
- , Bernabé I. Bustos
- & Giancarlo V. De Ferrari
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Meeting Report |
Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea
- Angela Solano
- , Giuseppe Novelli
- & Juergen K. V. Reichardt
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Article |
Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions
- Alejandra Vergara-Lope
- , Sarah Ennis
- & Andrew Collins
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Article |
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment
- Cinzia Cameli
- , Elena Bacchelli
- & Michele Zoli
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Article |
Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences
- Lan-Hai Wei
- , Ling-Xiang Wang
- & Hui Li
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Article |
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity
- Thanuja Selvanayagam
- , Susan Walker
- & Stephen W. Scherer
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Article |
Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease
- Carmen Martín-Sierra
- , Alvaro Gallego-Martinez
- & Jose A Lopez-Escamez
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Short Report |
Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins
- Kristina Magaard Koldby
- , Marianne Nygaard
- & Lene Christiansen
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Article |
A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set
- Hadassa C Santos
- , Andréa V R Horimoto
- & Alexandre C Pereira
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Article |
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
- Jean- Benoît Courcet
- , Siham Chafai Elalaoui
- & Laurence Faivre
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Article |
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients
- Fabio Sallustio
- , Sharon N Cox
- & Francesco P Schena
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Short Report
| Open AccessA MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure
- Ting Wang
- , Tong Zhou
- & Joe GN Garcia
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Short Report |
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant
- Thomas P Potjer
- , Heidi E Kranenburg
- & Hans F A Vasen
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Letter |
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
- Dragana Vuckovic
- , Bruno Dallapiccola
- & Paolo Gasparini
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Article |
Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants
- Inês Nogueiro
- , João Teixeira
- & Luis Alvarez
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Article |
Phenome-wide association studies (PheWASs) for functional variants
- Zhan Ye
- , John Mayer
- & Scott J Hebbring
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Article
| Open AccessEvaluation of European coeliac disease risk variants in a north Indian population
- Sabyasachi Senapati
- , Javier Gutierrez-Achury
- & Gosia Trynka
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Short Report |
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
- Paul D Brady
- , Hilde Van Esch
- & Joris R Vermeesch
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Article |
Improving power for robust trans-ethnic meta-analysis of rare and low-frequency variants with a partitioning approach
- Sergii Zakharov
- , Xu Wang
- & Yik-Ying Teo
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Letter |
Parental expression is overvalued in the interpretation of rare inherited variants
- Gregory Costain
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Short Report |
Brain tumor risk according to germ-line variation in the MLLT10 locus
- Kathleen M Egan
- , Rebekah Baskin
- & Alvaro N Monteiro
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Article |
Test of rare variant association based on affected sib-pairs
- Qiuying Sha
- & Shuanglin Zhang
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Article |
Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2
- Qianghua Xia
- , Sandra Deliard
- & Struan FA Grant
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Article |
Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure
- Renato Polimanti
- , Sara Piacentini
- & Maria Fuciarelli
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Article |
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Sara Seneca
- , Kim Vancampenhout
- & Linda De Meirleir
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Article |
Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R
- Dörthe Malzahn
- , Martina Müller-Nurasyid
- & Heike Bickeböller
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Article |
Human longevity and variation in DNA damage response and repair: study of the contribution of sub-processes using competitive gene-set analysis
- Birgit Debrabant
- , Mette Soerensen
- & Lene Christiansen
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Article |
Coverage and efficiency in current SNP chips
- Ngoc-Thuy Ha
- , Saskia Freytag
- & Heike Bickeboeller
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Article
| Open AccessVariation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
- Shengting Li
- , Soren Besenbacher
- & Mikkel H Schierup
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Article |
Population-level expression variability of mitochondrial DNA-encoded genes in humans
- Gang Wang
- , Ence Yang
- & James J Cai
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Article |
Retrieving Y chromosomal haplogroup trees using GWAS data
- Min-Sheng Peng
- , Jun-Dong He
- & Ya-Ping Zhang
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Article |
Structural genomic variation in childhood epilepsies with complex phenotypes
- Ingo Helbig
- , Marielle E M Swinkels
- & Bobby PC Koeleman
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Article |
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
- Ivan Prokudin
- , Cas Simons
- & Robyn V Jamieson
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Letter |
A more fitting term in the incidental findings debate: one term does not fit all situations
- Gillian Crawford
- , Angela Fenwick
- & Anneke Lucassen
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Article |
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
- Tracy Tucker
- , Farah R Zahir
- & Jan M Friedman
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Article |
Common genetic variants do not associate with CAD in familial hypercholesterolemia
- Erik P A van Iperen
- , Suthesh Sivapalaratnam
- & Aeilko H Zwinderman
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Short Report
| Open AccessFine mapping genetic determinants of the highly variably expressed MHC gene ZFP57
- Katharine Plant
- , Benjamin P Fairfax
- & Julian C Knight
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Article |
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- Sarah Vergult
- , Ellen Van Binsbergen
- & Björn Menten