European Journal of Human Genetics - 2016

210 articles | Last updated: 2025-12-03 14:12:56

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Article Title	T	A	T	A	T	A	T	A	Phrases Used
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers
Clinical utility gene card for: Sitosterolaemia
Investigating mitochondrial DNA relationships in Neolithic Western Europe through serial coalescent simulations
The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America					✓		✓		European origins in Latin America; Amerindian origins
A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits
Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy
Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models
Access policies in biobank research: what criteria do they include and how publicly available are they? A cross-sectional study
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Different kinds of genetic markers permit inference of Paleolithic and Neolithic expansions in humans
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs
Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
Prevalence, birth incidence, and penetrance of von Hippel–Lindau disease (vHL) in Denmark
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology
25 years of the EJHG!
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning
Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3
The Dutch legal approach regarding health care decisions involving minors in the NGS days
Reply to Kranendonk et al
Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease
Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles
A method to customize population-specific arrays for genome-wide association testing
A framework for the detection of de novo mutations in family-based sequencing data
Guidance for the utility of linear models in meta-analysis of genetic association studies of binary phenotypes
International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents
Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Clinical utility gene card for: 16p12.2 microdeletion
Economic evaluation in Genomic Medicine
New Clinical Genetics - 3rd edition
Erratum: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy
Joint association analysis of a binary and a quantitative trait in family samples
‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Whole-exome sequencing of Finnish hereditary breast cancer families							✓		Finnish
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression
A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility
A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice and implications for service provision
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Hereditary Hearing Loss and Its Syndromes Third Edition
Biobank attributes associated with higher patient participation: a randomized study
Improving the in silico assessment of pathogenicity for compensated variants
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing
Registered access: a ‘Triple-A’ approach
Differential expression of parental alleles of BRCA1 in human preimplantation embryos
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
Advantages of expanded universal carrier screening: what is at stake?
SORL1 variants across Alzheimer’s disease European American cohorts					✓				European American
Genomics and society—Ethical, Legal, Cultural and Socioeconomic Implication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting
Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease
The association between WNT10A variants and dental development in patients with isolated oligodontia
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy
Erratum: Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2
Erratum: Guidelines for diagnostic next-generation sequencing
Erratum: 22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium
Erratum: The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial
A brighter future for the implementation of pharmacogenomic testing
A pathway-centric approach to rare variant association analysis
Role of pharmacogenetics in public health and clinical health care: a SWOT analysis
Who should have access to genomic data and how should they be held accountable? Perspectives of Data Access Committee members and experts
Across-cohort QC analyses of GWAS summary statistics from complex traits
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
Reduced blood pressure after smooth muscle EFNB2 deletion and the potential association of EFNB2 mutation with human hypertension risk
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects
BRCA to the future: towards best testing practice in the era of personalised healthcare
The biological effects and clinical implications of BRCA mutations: where do we go from here?
New challenges for BRCA testing: a view from the diagnostic laboratory
Erratum: Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Finding all BRCA pathogenic mutation carriers: best practice models
Clinical Utility Gene Card for: Familial partial lipodystrophy
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
Lack of gene–language correlation due to reciprocal female but directional male admixture in Austronesians and non-Austronesians of East Timor
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their child
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients					✓				European patients
Detection of gene–environment interaction in pedigree data using genome-wide genotypes
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
On the reconciliation of missing heritability for genome-wide association studies
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Genotype and brain pathology phenotype in children with tuberous sclerosis complex
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Gene control
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
Challenges raised by cross-border testing of rare diseases in the European union
Clinical utility gene card for: Aniridia
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder
When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer
Return of individual genomic research results: what do consent forms tell participants?
Rare variants in dementia genes and Parkinson’s disease
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1
Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
Supporting genetics in primary care: investigating how theory can inform professional education
Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice
Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing
Prenatal testing in Huntington disease: after the test, choices recommence
Multi-layered population structure in Island Southeast Asians
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code
Erratum: International Charter of principles for sharing bio-specimens and data
Erratum: Lessons from a pair of siblings with BPAN
Erratum: Genome-wide association studies identify genetic loci for low von Willebrand factor levels
IRDiRC-recommended
Erratum: Big Data in medical research and EU data protection law: challenges to the consent or anonymise approach
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing
Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
The risk of re-identification versus the need to identify individuals in rare disease research
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Clinical utility gene card for: Wolfram syndrome
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy
A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria
The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial
Introducing Genetics – 2nd Edition
22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
Genetic variants in RBFOX3 are associated with sleep latency
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland
Genetic discovery in multi-ethnic populations
Clinical utility gene card for: Meckel syndrome – update 2016
Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins
Erratum: Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Nucleoporin genes in human diseases
Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families
Clinical utility gene card for: Peters plus syndrome
A novel kinase mutation in VEGFR-1 predisposes its αC-helix/activation loop towards allosteric activation: Atomic insights from protein simulation
Whole-exome sequencing in an isolated population from the Dalmatian island of Vis
‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Expansion of phenotype and genotypic data in CRB2-related syndrome
Responsible implementation of expanded carrier screening
CAG repeat size in Huntingtin alleles is associated with cancer prognosis
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Mayans: a Y chromosome perspective
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways
Beyond Loss: Dementia, Identity, Personhood
Comparative transcriptome analysis of muscular dystrophy models Largemyd, Dmdmdx/Largemyd and Dmdmdx: what makes them different?
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome							✓		Chinese
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
A family-based, genome-wide association study of young-onset breast cancer: inherited variants and maternally mediated effects
Heritability of non-speech auditory processing skills
An update of a classical textbook
Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effects
Association of the IGF1 gene with fasting insulin levels
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
Trans-ethnic study design approaches for fine-mapping
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
Against all odds: blended phenotypes of three single-gene defects
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn’s disease
Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies
A decision tool to guide the ethics review of a challenging breed of emerging genomic projects
Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis
Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
Erratum: A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project					✓		✓		European-American; African-American
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north–south gradient among Europeans					✓				Europeans
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration
The effect of phenotypic outliers and non-normality on rare-variant association testing