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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
- Raymond Belanger Deloge
- , Xiaonan Zhao
- & Daryl A. Scott
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Brief Communication
| Open AccessARHGAP35 is a novel factor disrupted in human developmental eye phenotypes
- Linda M. Reis
- , Nicolas Chassaing
- & Elena V. Semina
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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 |
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
| 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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Article |
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
- Marta Codina-Solà
- , Laura Trujillano
- & Eduardo Fidel Tizzano
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Brief Communication |
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard
- Iseult Jackson
- , Valeria Mattiangeli
- & Daniel G. Bradley
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Review Article |
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan
- Emma C. Hulshof
- , Maarten J. Deenen
- & Jesse J. Swen
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Article |
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
- Emanuela Leonardi
- , Maria Cristina Aspromonte
- & Alessandra Murgia
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Article |
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
- Bertrand Chesneau
- , Véronique Ivashchenko
- & Julie Plaisancié
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Article
| Open AccessFarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
- Ólavur Mortensen
- , Elisabet Thomsen
- & Noomi O. Gregersen
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Article |
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors
- Yann C. Klimentidis
- , Zhao Chen
- & Karen L. Herbst
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Article |
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy
- Francesco Mazzarotto
- , Alessia Argirò
- & Francesco Cappelli
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Article |
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
- Weiqian Dai
- , Yu Sun
- & Na Xu
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Article
| Open AccessGenetic prediction of male pattern baldness based on large independent datasets
- Yan Chen
- , Pirro Hysi
- & Manfred Kayser
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Policy
| Open AccessScope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom
- Anna Middleton
- , Nicola Taverner
- & Frances Elmslie
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Policy
| Open AccessThe genetic counsellor role in the United Kingdom
- Anna Middleton
- , Nicola Taverner
- & Elaine Jenkins
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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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Brief Communication |
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population
- Victoria Smuk
- , Javier A. López-Rivera
- & Dennis Lal
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Article
| Open AccessBiallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
- Tamara T. Koopmann
- , Yalda Jamshidi
- & Reza Maroofian
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Brief Communication
| Open AccessAnalysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
- Fabiola Ceroni
- , Daniel Osborne
- & Nicola K. Ragge
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Article |
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
- Ananthapadmanabha Kotambail
- , Pavalan Selvam
- & Gautham Arunachal
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Article
| Open AccessWhole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
- Bernhard O. Boehm
- , Wolfgang Kratzer
- & Vikas Bansal
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Comment |
The European Journal of Human Genetics is turning 30: a selection of major cancer genetics papers published by the Journal
- Patrick R. Benusiglio
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Comment |
Commentary: Von Hippel–Lindau disease: A clinical and scientific review
- Malak Abedalthagafi
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Comment
| Open AccessEarly illustrations of the importance of systematic phenotyping
- Reuben J. Pengelly
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Brief Communication
| Open AccessAssessing the digenic model in rare disorders using population sequencing data
- Nerea Moreno-Ruiz
- , J. C. Ambrose
- & Ferran Casals
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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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Comment
| Open AccessGenetic discrimination still casts a large shadow in 2022
- Yann Joly
- & Gratien Dalpe
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Article |
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
- Kaveh Rayani
- , Brianna Davies
- & Zachary W. M. Laksman
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Article
| Open AccessThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders
- Bart P. G. H. van der Sanden
- , Gaby Schobers
- & Lisenka E. L. M. Vissers
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Brief Communication |
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
- Paula Robles-Bolivar
- , David Bächinger
- & Jose A. Lopez-Escamez
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Brief Communication |
Developmental implications of genetic testing for physical indications
- Danielle A. Baribeau
- , Ny Hoang
- & Jacob Vorstman
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Viewpoint |
Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
- Saskia N. van der Crabben
- , Stellan Mörner
- & Arthur A. M. Wilde
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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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Article
| Open AccessKBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
- Lily Guo
- , Jiyeon Park
- & Gholson J. Lyon
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Article
| Open AccessIdentification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study
- Stefan Konigorski
- , Jürgen Janke
- & Tobias Pischon
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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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Article |
Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence
- Roseline Vibert
- , Khadija Lahlou-Laforêt
- & Anne-Paule Gimenez-Roqueplo
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Article |
The experiences of UK-based genetic counsellors working in mainstream settings
- Ellie Quinn
- & Katherine Mazur
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Brief Communication |
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
- Esra Yıldız Bölükbaşı
- , Justyna A. Karolak
- & Paweł Stankiewicz
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Article
| Open AccessHealth professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study
- Grace Dowling
- , Jane Tiller
- & Paul Lacaze
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Review Article |
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
- Lore Lannoo
- , Khaila van Straaten
- & Koenraad Devriendt
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Article |
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
- Viola Alesi
- , Francesca Romana Lepri
- & Maria Cristina Digilio
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