European Journal of Human Genetics - 2014

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

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Consent procedures in pediatric biobanks
Clinical utility gene card for: Cornelia de Lange syndrome
ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis
It is time to take timing seriously in clinical genetics
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis’
G is for Genes: The Impact of Genetics on Education and Achievement.
Erratum: Is the novel SCKL3 at 14q23 the predominant Seckel locus?
Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
A human laterality disorder associated with a homozygous WDR16 deletion
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))					✓				Northern European population
Postmortem medicolegal genetic diagnostics also require reporting guidance
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Heritability of liver enzyme levels estimated from genome-wide SNP data
Further delineation of the KAT6B molecular and phenotypic spectrum
Duplicated copy of CHRNA7 increases risk and worsens prognosis of COPD and lung cancer
Clinical utility gene card for: Zellweger syndrome spectrum
Isolation and prominent aboriginal maternal legacy in the present-day population of La Gomera (Canary Islands)
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome
BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity
Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)
Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia
Charles Buys (1942–2014)
Exploring Personal Genomics
Clinical utility gene card for: Alport syndrome – update 2014
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease
Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants
Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck
Novel genomic signals of recent selection in an Ethiopian population
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients
Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice
On two Jewish clades in mitochondrial DNA
Reply to letter from Felice L. Bedford and Doron Yacobi
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing
An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders
Expanding the mutational spectrum of LZTR1 in schwannomatosis
Clinical utility gene card for: Abetalipoproteinaemia – Update 2014
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
Clinical utility gene card for: Trimethylaminuria – update 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
Reply to Mendez et al: the ‘extremely ancient’ chromosome that still isn’t
Reply to ‘The ‘extremely ancient’ chromosome that isn’t’ by Elhaik et al
Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Teeth anomalies and genetics, including genetic syndromes
A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case–control study
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
Do early paternal exposures to lifestyle factors such as smoking increase the risk of chronic diseases in the offspring?
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs
The correlation between ancestry and color in two cities of Northeast Brazil with contrasting ethnic compositions							✓		ancestry; color; ethnic compositions
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes
Homogeneous case subgroups increase power in genetic association studies
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure
Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Genomic cloud computing: legal and ethical points to consider
Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia
A clinical and genetic analysis of multiple primary cancer referrals to genetics services
The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014
Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs)
International Charter of principles for sharing bio-specimens and data
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care
Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015
Identification of possible pathogenic pathways in Behçet’s disease using genome-wide association study data from two different populations
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
The dystrophin gene and cognitive function in the general population
Heritability estimates on Hodgkin’s lymphoma: a genomic- versus population-based approach
Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
A systematic review of factors that act as barriers to patient referral to genetic services
Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)
Fine mapping of eight psoriasis susceptibility loci
Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
Clinical utility gene card for: Dyskeratosis congenita – update 2015
Clinical utility gene card for: Werner Syndrome - Update 2014
Fine-scale human genetic structure in Western France
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement
Clinical utility gene card for: Lowe syndrome
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine
Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
Tectonic gene mutations in patients with Joubert syndrome
VPS35 and DNAJC13 disease-causing variants in essential tremor
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
Identification of previously unrecognized FAP in children with Gardner fibroma
A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy
Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants
Phenome-wide association studies (PheWASs) for functional variants
Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents
Scientists’ perspectives on consent in the context of biobanking research
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy
Evaluation of European coeliac disease risk variants in a north Indian population					✓				European coeliac disease risk variants
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Functional correction by antisense therapy of a splicing mutation in the GALT gene
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening
Pathway analysis with next-generation sequencing data
A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Using whole-exome sequencing to identify variants inherited from mosaic parents
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
A new mutation in GFAP widens the spectrum of Alexander disease
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis
Improving accuracy of rare variant imputation with a two-step imputation approach
Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese							✓		Japanese
Willingness to pay for genetic testing for inherited retinal disease
To disclose, or not to disclose? Context matters
Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families
Sandwich corrected standard errors in family-based genome-wide association studies
Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome
The role of the genetic counsellor: a systematic review of research evidence
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach
Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia
The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length
Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA
Clinical utility gene card for: Angelman Syndrome
Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’					✓				European samples
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Measuring informed choice in population-based reproductive genetic screening: a systematic review
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population
Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)
Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome
6q22.1 microdeletion and susceptibility to pediatric epilepsy
Clinical utility gene card for: 15q13.3 microdeletion syndrome
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
Improving power for robust trans-ethnic meta-analysis of rare and low-frequency variants with a partitioning approach
The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers
Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
Genome-wide UPD screening in patients with intellectual disability
Dynamic consent: a patient interface for twenty-first century research networks
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Further confirmation of the MED13L haploinsufficiency syndrome
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors
Parental expression is overvalued in the interpretation of rare inherited variants
Possible technical and biological explanations for the ‘parental telomere length inheritance discrepancy’ enigma
Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
Brain tumor risk according to germ-line variation in the MLLT10 locus
Erratum: Offering prenatal diagnostic tests: European guidelines for clinical practice
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands
Clinical utility gene card for: Prader-Willi Syndrome
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
New insights into genotype–phenotype correlation for GLI3 mutations
Predictive testing for inherited prion disease: report of 22 years experience
Toward a common language for biobanking
Human active X-specific DNA methylation events showing stability across time and tissues
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements
Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease
Prepubertal start of father’s smoking and increased body fat in his sons: further characterisation of paternal transgenerational responses
Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism
Test of rare variant association based on affected sib-pairs
Brugada syndrome risk loci seem protective against atrial fibrillation
Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure
Unravelling the distinct strains of Tharu ancestry
Functional characterization of BRCA1 gene variants by mini-gene splicing assay
Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease
Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts
Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
The phylogenetic and geographic structure of Y-chromosome haplogroup R1a
Genetic analysis, in silico prediction, and family segregation in long QT syndrome
Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening
Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population							✓		Han Chinese population
A national perspective on prenatal testing for mitochondrial disease
Human genetics of the Kula Ring: Y-chromosome and mitochondrial DNA variation in the Massim of Papua New Guinea
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias
Clinical utility gene card for: Williams–Beuren Syndrome [7q11.23]
Clinical utility gene card for: Phosphomannose isomerase deficiency
Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer
Public views on participating in newborn screening using genome sequencing
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome
Using ancestry-informative markers to identify fine structure across 15 populations of European origin					✓				European origin
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels
Clinical utility gene card for: Oculocutaneous albinism
Redundant enhancers and causal variants in the TCF7L2 gene
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
Clinical utility gene card for: Maturity-onset diabetes of the young
Biallelic MUTYH mutations can mimic Lynch syndrome
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia
Human longevity and variation in DNA damage response and repair: study of the contribution of sub-processes using competitive gene-set analysis
Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R
Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations
Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia
Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings
ERIC: a new governance tool for Biobanking
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data
Systematic large-scale study of the inheritance mode of Mendelian disorders provides new insight into human diseasome
Trends in genetic patent applications: the commercialization of academic intellectual property
Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome
Coverage and efficiency in current SNP chips
DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix
Fragile X syndrome due to a missense mutation
Erratum: The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Managing clinically significant findings in research: the UK10K example
Erratum: BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
Clinical utility gene card for: Phosphomannomutase 2 deficiency
Face shape differs in phylogenetically related populations
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe
Population-level expression variability of mitochondrial DNA-encoded genes in humans
Structural and numerical changes of chromosome X in patients with esophageal atresia
Variability in dentofacial phenotypes in four families with WNT10A mutations
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)
Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease
Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany
Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests					✓				Europeans