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Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
- Ricarda Flöttmann
- , Anna Sowinska-Seidler
- & Malte Spielmann
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Article |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction
- Hideki Itoh
- , Myriam Berthet
- & Pascale Guicheney
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Book Review |
Genomic control process: development and evolution
- Eglė Preikšaitienė
- & Vaidutis Kučinskas
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Article |
Prediction of male-pattern baldness from genotypes
- Fan Liu
- , Merel A Hamer
- & Manfred Kayser
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Short Report |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
- Sylvie Langlois
- , Maja Tarailo-Graovac
- & Clara DM van Karnebeek
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Article |
Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2
- Lenka Slachtova
- , Ondrej Seda
- & Pavel Martasek
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Short Report
| Open AccessSTAG3 truncating variant as the cause of primary ovarian insufficiency
- Polona Le Quesne Stabej
- , Hywel J Williams
- & Gerard S Conway
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Article
| Open AccessMotivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project
- Saskia C Sanderson
- , Michael D Linderman
- & Eric E Schadt
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
- Julián Nevado
- , Jill A Rosenfeld
- & Pablo Lapunzina
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Article
| Open AccessGenome-wide analysis identifies a role for common copy number variants in specific language impairment
- Nuala H Simpson
- , Fabiola Ceroni
- & Dianne F Newbury
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| Open AccessDietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents
- Sarah Voisin
- , Markus S Almén
- & Helgi B Schiöth
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Short Report |
Using whole-exome sequencing to identify variants inherited from mosaic parents
- Jonathan J Rios
- & Mauricio R Delgado
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Article
| Open AccessManaging clinically significant findings in research: the UK10K example
- Jane Kaye
- , Matthew Hurles
- & Tim Spector
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Viewpoint |
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)
- Anna Middleton
- , Chris Patch
- & Anita Bruce
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Article |
Research participants’ attitudes towards the confidentiality of genomic sequence information
- Leila Jamal
- , Julie C Sapp
- & Barbara B Biesecker
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Review |
Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation
- Yun R Li
- , John E Levine
- & Brendan J Keating
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Policy
| Open AccessLife insurance: genomic stratification and risk classification
- Yann Joly
- , Hilary Burton
- & Ine Van Hoyweghen
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Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care
- Fiona A Miller
- , Robin Z Hayeems
- & Lillian L Siu
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Article
| Open AccessThe Genome of the Netherlands: design, and project goals
- Dorret I Boomsma
- , Cisca Wijmenga
- & Cornelia M van Duijn
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Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations
- David Barzan
- , Marlon R Veldwijk
- & Frederik Wenz
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Meiotic gene-conversion rate and tract length variation in the human genome
- Badri Padhukasahasram
- & Bruce Rannala
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Citizens' perspectives on personalized medicine: a qualitative public deliberation study
- Yvonne Bombard
- , Julia Abelson
- & Francois-Pierre Gauvin
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FTO levels affect RNA modification and the transcriptome
- Tea Berulava
- , Matthias Ziehe
- & Bernhard Horsthemke
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Article
| Open AccessPersonalized medicine and access to health care: potential for inequitable access?
- Kelly A McClellan
- , Denise Avard
- & Bartha M Knoppers
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Motivators for participation in a whole-genome sequencing study: implications for translational genomics research
- Flavia M Facio
- , Stephanie Brooks
- & Barbara B Biesecker
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Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort
- Sanghoon Moon
- , Young Jin Kim
- & Bong-Jo Kim
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An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction
- Rosario Michael Piro
- , Ugo Ala
- & Ferdinando Di Cunto
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
- Christian Wentzel
- , Evica Rajcan-Separovic
- & Ann-Charlotte Thuresson
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Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease
- Åsa Johansson
- , Joanne E Curran
- & John Blangero
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Letter |
Does the new HapMap throw the baby out with the bath water?
- Pablo Sandro Carvalho Santos
- , Johannes Höhne
- & Andreas Ziegler
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Article |
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe
- Heather Skirton
- , Celine Lewis
- & Domenico A Coviello
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What is a meaningful result? Disclosing the results of genomic research in autism to research participants
- Fiona Alice Miller
- , Robin Zoe Hayeems
- & Jessica Peace Bytautas
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