Featured
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Article
| Open AccessEvaluation of a two-step model of opportunistic genomic screening
- Melissa Martyn
- , Ling Lee
- & Clara Gaff
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Review Article
| Open AccessWhat is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
- Alan Ma
- , Rosie O’Shea
- & Nicole Rankin
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Article
| Open AccessThe value of genomic testing in severe childhood speech disorders
- Yan Meng
- , Stephanie Best
- & Ilias Goranitis
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Article
| Open AccessDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
- M. Cecilia Poli
- , Boris Rebolledo-Jaramillo
- & Gabriela M. Repetto
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Article |
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus
- Fedor S. Sharko
- , Eugenia S. Boulygina
- & Artem V. Nedoluzhko
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Article
| Open AccessEthical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua
- Iris S. Delgado
- , Abigail Outterson
- & Catharine Wang
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Article
| Open AccessA 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
- Pål Marius Bjørnstad
- , Ragnhild Aaløkken
- & Gregor D. Gilfillan
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Brief Communication
| Open AccessBiallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
- Patrick Yap
- , Lisa G. Riley
- & Polona Le Quesne Stabej
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Article
| Open AccessKnowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
- Michelle Peter
- , Jennifer Hammond
- & Celine Lewis
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Article |
Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography
- Janneke M. L. Kuiper
- , Pascal Borry
- & Ine Van Hoyweghen
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Brief Communication
| Open AccessNovel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
- Thomas B. Smith
- , Alessandro Rea
- & Raymond T. O’Keefe
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Article
| Open AccessAt a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
- Pilar Guatibonza Moreno
- , Luba M. Pardo
- & Aida Bertoli-Avella
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Article |
Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations
- Fiona Lynch
- , Yan Meng
- & Danya F. Vears
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Viewpoint
| Open AccessElusive variants in autosomal recessive disease: how can we improve timely diagnosis?
- Ari E. Horton
- , Sebastian Lunke
- & Zornitza Stark
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Article |
KiT-GENIE, the French genetic biobank of kidney transplantation
- Rokhaya Ba
- , Axelle Durand
- & Sophie Limou
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Policy
| Open AccessGenetic testing for mitochondrial disease: the United Kingdom best practice guidelines
- Eleni Mavraki
- , Robyn Labrum
- & Carl Fratter
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Correspondence |
Scientific refutation of ESHG statement on embryo selection
- Laurent Christian Asker Melchior Tellier
- , Nathan Robert Treff
- & Erik Widen
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Article |
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
- Anne Sophie Neyroud
- , Joëlle Rudinger-Thirion
- & Sylvie Jaillard
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Article |
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
- Philippine Garret
- , Martin Chevarin
- & Yannis Duffourd
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Article
| Open AccessComparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- David I. Francis
- , Zornitza Stark
- & Meaghan Wall
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Article |
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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Review Article
| Open AccessSomatic genetic variation in healthy tissue and non-cancer diseases
- Manuel Solís-Moruno
- , Laura Batlle-Masó
- & Ferran Casals
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Review Article
| Open AccessHow does the genomic naive public perceive whole genomic testing for health purposes? A scoping review
- Isabella A. Sherburn
- , Keri Finlay
- & Stephanie Best
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Comment |
Commentary: Von Hippel–Lindau disease: A clinical and scientific review
- Malak Abedalthagafi
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Article |
Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank
- Liis Leitsalu
- , Anu Reigo
- & Andres Metspalu
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Article
| Open AccessWhole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
- Lisa J. Ewans
- , Andre E. Minoche
- & Tony Roscioli
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Brief Communication
| Open AccessUnexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
- Haloom Rafehi
- , Cherie Green
- & Melanie Bahlo
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Review Article
| Open AccessEthical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
- Katharina Tschigg
- , Luca Consoli
- & Deborah Mascalzoni
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Brief Communication |
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
- Nicolas Bourgon
- , Aurore Garde
- & Christel Thauvin-Robinet
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Article
| Open AccessGene-lifestyle interactions in the genomics of human complex traits
- Vincent Laville
- , Timothy Majarian
- & Hugues Aschard
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Article |
Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium)
- Eva Van Steijvoort
- , Heleen Devolder
- & Pascal Borry
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Article
| Open AccessParticipant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
- Michelle Peter
- , Jennifer Hammond
- & Celine Lewis
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Article |
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 tool for translating polygenic scores onto the absolute scale using summary statistics
- Oliver Pain
- , Alexandra C. Gillett
- & Cathryn M. Lewis
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Article
| Open AccessGenomic analysis of childhood hearing loss in the Yoruba population of Nigeria
- Adebolajo Adeyemo
- , Rabia Faridi
- & Isabelle Roux
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Article |
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
- Oliver Murch
- , Vani Jain
- & Andrew E. Fry
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Article
| Open AccessThe ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review
- Adeline Perrot
- & Ruth Horn
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Article |
Parents’ experiences of decision making for rapid genomic sequencing in intensive care
- Fiona Lynch
- , Amy Nisselle
- & Belinda McClaren
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Article |
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)
- Maja Matic
- , Marga Nijenhuis
- & Ron H. N. van Schaik
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Article |
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
- You Wu
- , Shanti Balasubramaniam
- & Ilias Goranitis
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Article
| Open AccessAllele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
- Hrafnhildur L. Runolfsdottir
- , John A. Sayer
- & Runolfur Palsson
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Article |
Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes
- Anne-Marie Gerdes
- , Line Nicolaisen
- & Birgitte Rode Diness
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Brief Communication |
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Benjamin M. Nash
- , Christopher J. G. Watson
- & Robyn V. Jamieson
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Correspondence
| Open AccessReply letter to Battke et al.
- Aida M. Bertoli-Avella
- , Christian Beetz
- & Peter Bauer
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Article |
Polygenic risk modeling with latent trait-related genetic components
- Matthew Aguirre
- , Yosuke Tanigawa
- & Manuel A. Rivas
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Article
| Open AccessBi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
- Johann Kaspar Lieberwirth
- , Pascal Joset
- & Rami Abou Jamra
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Article
| Open AccessThe ethics of genomic medicine: redefining values and norms in the UK and France
- Marie Gaille
- , Ruth Horn
- & Carine Vassy