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European Journal of Human Genetics - 2015

285 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability
Estimating time to the most recent common ancestor (TMRCA): comparison and application of eight methods
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
ADHD and Its Many Associated Problems
Autonomic Neurology
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases ✓ French Canadian
Genome-wide gene–environment interactions on quantitative traits using family data
Lessons learned from gene identification studies in Mendelian epilepsy disorders
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Lessons from a pair of siblings with BPAN
Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases
Clinical utility gene card for: Biotinidase deficiency—update 2015
Genomic control process: development and evolution
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
Erratum: Partial USH2A deletions contribute to Usher syndrome in Denmark
Erratum: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Big Data in medical research and EU data protection law: challenges to the consent or anonymise approach
The Italian genome reflects the history of Europe and the Mediterranean basin
Development of a registration system for genetic counsellors and nurses in health-care services in Europe
De novo variants in sporadic cases of childhood onset schizophrenia
Erratum: Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project
Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
A general approach for combining diverse rare variant association tests provides improved robustness across a wider range of genetic architectures
Guidelines for diagnostic next-generation sequencing
Prediction of male-pattern baldness from genotypes
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
Identification of candidate genes for familial early-onset essential tremor
New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing
Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations ✓ ✓ ✓ Neolithic Europeans; higher genetic affinity to Neolithic Europeans; Europe; Armenians; present-day Near Easterners; the Caucasus
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
Genome-wide association studies identify genetic loci for low von Willebrand factor levels
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Neurogenetics ‘What do I do now?’ series
Genetic Counseling Research—A Practical Guide
Erratum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Erratum: Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice
Clinical utility gene card for: acrodermatitis enteropathica – update 2015
CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling
Effect of six type II diabetes susceptibility loci and an FTO variant on obesity in Pakistani subjects
A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status
Differential effects of the APOE e4 allele on different domains of cognitive ability across the life-course
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Erratum: The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
Erratum: Genome-wide inbreeding estimation within Lebanese communities using SNP arrays
Evaluation and Treatment of Myopathies
Origins, admixture and founder lineages in European Roma ✓ European Roma
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2
Novel genetic causes for cerebral visual impairment
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases
Phenotypic extremes in rare variant study designs
Why do we pay for information that we won’t use? A cognitive-based explanation for genetic information seeking
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study
Health professionals’ opinions on supporting a cancer biobank: identification of barriers to combat biobanking pitfalls
On the use of Chinese population as a proxy of Amerindian ancestors in genetic admixture studies with Latin American populations
Reply to Moura et al
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
Refined phylogenetic structure of an abundant East Asian Y-chromosomal haplogroup O*-M134
Defining the role of the CGGBP1 protein in FMR1 gene expression
Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy
Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research
Children with sex chromosome trisomies: parental disclosure of genetic status
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
FAPI: Fast and accurate P-value Imputation for genome-wide association study
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)
The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population
Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations
Erratum: Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population
How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry ✓ Mongolian ancestry
No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
Increased genetic risk for obesity in premature coronary artery disease
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy
Erratum: Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
Erratum: A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects
Genome-wide gene–gene interaction analysis for next-generation sequencing
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily
The need to develop an evidence base for genetic counselling in Europe
Can whole-exome sequencing data be used for linkage analysis?
Impact of presymptomatic genetic testing on young adults: a systematic review
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication
Embryonic stem cell patents at European top court
Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations
New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia ✓ European paternal lineage M269; Atlantic Europe and Iberia
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function
STAG3 truncating variant as the cause of primary ovarian insufficiency
The use of whole-exome sequencing to disentangle complex phenotypes
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies
Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project
High acceptance of an early dyslexia screening test involving genetic analyses in Germany
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction
Towards a European consensus for reporting incidental findings during clinical NGS testing
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
Reanalysis of mGWAS results and in vitro validation show that lactate dehydrogenase interacts with branched-chain amino acid metabolism
Genetic counsellors in Sweden: their role and added value in the clinical setting
A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome
Myelination-related genes are associated with decreased white matter integrity in schizophrenia
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015
Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes
Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests
Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
Genetics of GNE myopathy in the non-Jewish Persian population ✓ non-Jewish Persian population
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice
Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array
Joubert syndrome: genotyping a Northern European patient cohort
LRP5 variants may contribute to ADPKD
Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism
A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis
Rare missense variants within a single gene form yin yang haplotypes
Telemedicine uptake among Genetics Professionals in Europe: room for expansion
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Genomics and metabolomics of muscular mass in a community-based sample of UK females
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
The relationship between surname frequency and Y chromosome variation in Spain
Regulating biobanking with children’s tissue: a legal analysis and the experts’ view
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
Association of mutations in FLNA with craniosynostosis
Collapsed haplotype pattern method for linkage analysis of next-generation sequence data
Erratum: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
Genetics and Genomics in Medicine
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
Deciphering associations for lung cancer risk through imputation and analysis of 12 316 cases and 16 831 controls
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy
Guidelines for cytogenetic investigations in tumours
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
Exposing participants? Population biobanks go geo
Partial USH2A deletions contribute to Usher syndrome in Denmark
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
Genetic Heterogeneity and Human Disease
Erratum: European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Erratum: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome
A gene-based information gain method for detecting gene–gene interactions in case–control studies
Genome-wide genetic investigation of serological measures of common infections
Redefining the MED13L syndrome
A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking
No evidence for increased mortality in SDHD variant carriers compared with the general population
Kullback–Leibler divergence for detection of rare haplotype common disease association
Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis
Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent ✓ population of European descent
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait
GWAS with longitudinal phenotypes: performance of approximate procedures
Clinical utility gene card for: Nemaline myopathy – update 2015
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
Clinical utility gene card for: CHARGE syndrome - update 2015
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study
CHARGE syndrome: a review of the immunological aspects
Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency
Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability
KLLN epigenotype–phenotype associations in Cowden syndrome
EIF3G is associated with narcolepsy across ethnicities
Truncated prelamin A expression in HGPS-like patients: a transcriptional study
A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Next-generation sequencing in X-linked intellectual disability
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
Resequencing of LPL in African Blacks and associations with lipoprotein–lipid levels
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Interleukin-37 gene variants segregated anciently coexist during hominid evolution
Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy
Clinical utility gene card for: Arterial tortuosity syndrome
Extensive genome-wide autozygosity in the population isolates of Daghestan
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Research participants in NGS studies want to know about incidental findings
Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease
All you ever needed to explain genetics to non-geneticists
A classic textbook which will earn its space on your bookshelf
‘Epistatic interactions between autoimmunity and genetic thrombophilia’
Reply to Sajantila and Budowle
Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations
Reply to Stoimenis et al
Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
Where is the causal variant? On the advantage of the family design over the case–control design in genetic association studies
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
Genome-wide analysis identifies a role for common copy number variants in specific language impairment
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure
Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America
Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to know