| From Mendel to Medical Genetics |
|
|
|
|
|
|
|
|
|
| Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992–2017) |
|
|
|
|
|
|
|
|
|
| Those wonderful school days in Sestri Levante! |
|
|
|
|
|
|
|
|
|
| Secretary Generals on recent ESHG presidents (2003–2015) |
|
|
|
|
|
|
|
|
|
| Read's Recall: Shuffling abstracts - and foundations |
|
|
|
|
|
|
|
|
|
| The annual meeting 1988–2017 |
|
|
|
|
|
|
|
|
|
| Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016 |
|
|
|
|
|
|
|
|
|
| Involving the European National Human Genetics Societies |
|
|
|
|
✓ |
|
|
|
European National Human Genetics Societies |
| The European Board of Medical Genetics: development of a professional registration system in Europe |
|
|
|
|
|
|
|
|
|
| The creation of the International Federation of Human Genetics Societies in 1995–1996 |
|
|
|
|
|
|
|
|
|
| The growth of the IFHGS after 2000 |
|
|
|
|
|
|
|
|
|
| Recognition of clinical genetics in Europe |
|
|
|
|
|
|
|
|
|
| The development of the public and professional policy committee |
|
|
|
|
|
|
|
|
|
| The ESHG’s second quarter century: consolidation and growth—the period covering 1992–2017 |
|
|
|
|
|
|
|
|
|
| The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school |
|
|
|
|
|
|
|
|
|
| The inner life and structure of ESHG |
|
|
|
|
|
|
|
|
|
| The development and growth of EJHG 1995–2017 |
|
|
|
|
|
|
|
|
|
| EuroGentest NoE, the ESHG, and genetic services |
|
|
|
|
|
|
|
|
|
| Dysmorphology and the ESHG |
|
|
|
|
|
|
|
|
|
| Regulatory variants of FOXG1 in the context of its topological domain organisation |
|
|
|
|
|
|
|
|
|
| CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays |
|
|
|
|
|
|
|
|
|
| Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations |
|
|
|
|
|
|
|
|
|
| A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency |
|
|
|
|
|
|
|
|
|
| Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome |
|
|
|
|
|
|
|
|
|
| Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci |
|
|
|
|
|
|
|
|
|
| NMNAT1 variants cause cone and cone-rod dystrophy |
|
|
|
|
|
|
|
|
|
| Mucopolysaccharidosis at play? |
|
|
|
|
|
|
|
|
|
| 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference |
|
|
|
|
|
|
|
|
|
| Points to consider for laboratories reporting results from diagnostic genomic sequencing |
|
|
|
|
|
|
|
|
|
| Recent developments in genetics and medically assisted reproduction: from research to clinical applications |
|
|
|
|
|
|
|
|
|
| Mitochondrial genomes uncover the maternal history of the Pamir populations |
|
|
|
|
|
|
|
|
|
| The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability |
|
|
|
|
|
|
|
|
|
| Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation |
|
|
|
|
|
|
|
|
|
| HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
|
|
|
|
|
|
|
|
|
| One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans |
|
|
|
|
|
|
|
|
|
| Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation |
|
|
|
|
|
|
|
|
|
| Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families |
|
|
|
|
|
|
✓ |
|
Finnish |
| The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact |
|
|
|
|
|
|
|
|
|
| Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray |
|
|
|
|
|
|
|
|
|
| Exome Pool-Seq in neurodevelopmental disorders |
|
|
|
|
|
|
|
|
|
| Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study |
|
|
|
|
|
|
|
|
|
| The many “I” inside of “Me” |
|
|
|
|
|
|
|
|
|
| Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 |
|
|
|
|
|
✓ |
|
|
European population |
| A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity |
|
|
|
|
|
|
|
|
|
| Next-generation sequencing of patients with congenital anosmia |
|
|
|
|
|
|
|
|
|
| Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities |
|
|
|
|
|
|
|
|
|
| WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data |
|
|
|
|
|
|
|
|
|
| Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers |
|
|
|
|
|
|
|
|
|
| Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin–utrophin double knockout mice |
|
|
|
|
|
|
|
|
|
| Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Erratum: Responsible implementation of expanded carrier screening |
|
|
|
|
|
|
|
|
|
| The TAD-pathway for GWAS signals |
|
|
|
|
|
|
|
|
|
| Erratum: 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium |
|
|
|
|
|
|
|
|
|
| Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants |
|
|
|
|
|
|
|
|
|
| Erratum: Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond |
|
|
|
|
|
|
|
|
|
| Population-specific genetic variation in large sequencing data sets: why more data is still better |
|
|
|
|
|
|
|
|
|
| Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease |
|
|
|
|
|
|
|
|
|
| Lysenko and Russian genetics: Reply to Wang & Liu |
|
|
|
|
|
|
|
|
|
| Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia |
|
|
|
|
|
|
|
|
|
| Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer |
|
|
|
|
|
|
|
|
|
| Lysenko and Russian genetics: an alternative view |
|
|
|
|
|
|
|
|
|
| Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users |
|
|
|
|
|
|
|
|
|
| Identification of ASAH1 as a susceptibility gene for familial keloids |
|
|
|
|
|
|
|
|
|
| Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing |
|
|
|
|
|
|
|
|
|
| Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes |
|
|
|
|
|
|
|
|
|
| Propionic acidemia as a cause of adult-onset dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis |
|
|
|
|
|
|
|
|
|
| NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect |
|
|
|
|
|
|
|
|
|
| The wide spectrum of POT1 gene variants correlates with multiple cancer types |
|
|
|
|
|
|
|
|
|
| The Y chromosome: a blueprint for men’s health? |
|
|
|
|
|
|
|
|
|
| Viewing the male-specific chromosome Y in a new light |
|
|
|
|
|
|
|
|
|
| Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome |
|
|
|
|
|
|
|
|
|
| Participation in interdisciplinary meetings on genetic diagnostics (NGS) |
|
|
|
|
|
|
|
|
|
| Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations |
|
|
|
|
|
|
|
|
|
| A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data |
|
|
|
|
|
|
|
|
|
| Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias |
|
|
|
|
|
|
|
|
|
| SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population |
|
|
|
|
|
|
|
|
|
| Haplotype-based stratification of Huntington's disease |
|
|
|
|
|
|
|
|
|
| Third party interpretation of raw genetic data: an ethical exploration |
|
|
|
|
|
|
|
|
|
| Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells |
|
|
|
|
|
|
|
|
|
| Decreased male reproductive success in association with mitochondrial dysfunction |
|
|
|
|
|
|
|
|
|
| Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene |
|
|
|
|
|
|
|
|
|
| Implicating candidate genes at GWAS signals by leveraging topologically associating domains |
|
|
|
|
|
|
|
|
|
| Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia |
|
|
|
|
|
|
|
|
|
| Recontacting in clinical practice: the views and expectations of patients in the United Kingdom |
|
|
|
|
|
|
|
|
|
| Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor |
|
|
|
|
|
|
|
|
|
| Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines |
|
|
|
|
|
|
|
|
|
| Transparency of genetic testing services for ‘health, wellness and lifestyle’: analysis of online prepurchase information for UK consumers |
|
|
|
|
|
|
|
|
|
| Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey |
|
|
|
|
|
|
|
|
|
| Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1) |
|
|
|
|
|
|
|
|
|
| Sexual dimorphism in the genetic influence on human childlessness |
|
|
|
|
|
|
|
|
|
| Genetically predicted high body mass index is associated with increased gastric cancer risk |
|
|
|
|
|
|
|
|
|
| New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome |
|
|
|
|
|
|
|
|
|
| Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis |
|
|
|
|
|
|
|
|
|
| Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features |
|
|
|
|
|
|
|
|
|
| Yunis-Varón syndrome caused by biallelic VAC14 mutations |
|
|
|
|
|
|
|
|
|
| Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians |
✓ |
|
|
|
|
|
|
|
|
| A novel de novo mutation in MYT1, the unique OAVS gene identified so far |
|
|
|
|
|
|
|
|
|
| Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? |
|
|
|
|
|
|
|
|
|
| Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities |
|
|
|
|
|
|
|
|
|
| Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction |
|
|
|
|
|
|
|
|
|
| ‘Absolute clarity’ and how to achieve it |
|
|
|
|
|
|
|
|
|
| Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Thorough discussion of cancer research—thoughts against the main stream |
|
|
|
|
|
|
|
|
|
| Be prepared for prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information? |
|
|
|
|
|
|
|
|
|
| A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design |
|
|
|
|
|
|
|
|
|
| Genotype and phenotype spectrum of NRAS germline variants |
|
|
|
|
|
|
|
|
|
| Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder |
|
|
|
|
|
|
|
|
|
| Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring |
|
|
|
|
|
|
|
|
|
| England uses a competency-based approach to consent for health interventions |
|
|
|
|
|
|
|
|
|
| Reply to C Harling |
|
|
|
|
|
|
|
|
|
| A rare-variant test for high-dimensional data |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for: Tangier disease |
|
|
|
|
|
|
|
|
|
| Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy |
|
|
|
|
|
|
|
|
|
| The last sea nomads of the Indonesian archipelago: genomic origins and dispersal |
|
|
|
|
|
|
|
|
|
| Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree |
|
|
|
|
|
|
|
|
|
| The perceived impact of the European registration system for genetic counsellors and nurses |
|
|
|
|
|
|
|
|
|
| Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants |
|
|
|
|
|
|
|
|
|
| Insertion of Alu elements at a PTEN hotspot in Cowden syndrome |
|
|
|
|
|
|
|
|
|
| Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data |
|
|
|
|
|
|
|
|
|
| Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development |
|
|
|
|
|
|
|
|
|
| Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe |
|
|
|
|
|
|
|
|
|
| Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
|
|
|
|
|
|
|
|
|
| ‘Inherited Metabolic Disease in Adults: A Clinical Guide’ |
|
|
|
|
|
|
|
|
|
| A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers |
|
|
|
|
|
|
|
|
|
| Progressive hereditary spastic paraplegia caused by a homozygous KY mutation |
|
|
|
|
|
|
|
|
|
| Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb |
|
|
|
|
|
|
|
|
|
| The European Society of Human Genetics: beginnings, early history and development over its first 25 years |
|
|
|
|
|
|
|
|
|
| Uninformed consent in nutrigenomic research |
|
|
|
|
|
|
|
|
|
| Some pioneers of European human genetics |
|
|
|
|
|
|
|
|
|
| Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality |
|
|
|
|
|
|
|
|
|
| Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey |
|
|
|
|
|
|
|
|
|
| Introduction to the first ESHG/EJHG Anniversary issue |
|
|
|
|
|
|
|
|
|
| UK National Screening Committee Criteria: clarification of two misunderstandings |
|
|
|
|
|
|
|
|
|
| Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype |
|
|
|
|
|
|
|
|
|
| Reply to A Mackie |
|
|
|
|
|
|
|
|
|
| The RUDY study: using digital technologies to enable a research partnership |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases |
|
|
|
|
|
|
|
|
|
| Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID |
|
|
|
|
|
|
|
|
|
| Gene-set analysis shows association between FMRP targets and autism spectrum disorder |
|
|
|
|
|
|
|
|
|
| Erratum: Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing |
|
|
|
|
|
|
|
|
|
| Selected advances in genetics—cream of the crop |
|
|
|
|
|
|
|
|
|
| How to manage large-scale collaborative genomics research projects? |
|
|
|
|
|
|
|
|
|
| A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics |
|
|
|
|
|
|
|
|
|
| Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study |
|
|
|
|
|
|
|
|
|
| An efficient and flexible test for rare variant effects |
|
|
|
|
|
|
|
|
|
| Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel |
|
|
|
|
|
|
|
|
|
| Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing |
|
|
|
|
|
|
|
|
|
| Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms |
|
|
|
|
|
|
|
|
|
| Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB |
|
|
|
|
|
|
|
|
|
| Validation of copy number variation analysis for next-generation sequencing diagnostics |
|
|
|
|
|
|
|
|
|
| Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for: Fabry disease – update 2016 |
|
|
|
|
|
|
|
|
|
| Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders |
|
|
|
|
|
|
|
|
|
| From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy |
|
|
|
|
|
|
|
|
|
| Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent |
|
|
|
|
|
|
|
|
|
| PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features |
|
|
|
|
|
|
|
|
|
| Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study |
|
|
|
|
|
|
|
|
|
| The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors |
|
|
|
|
|
|
|
|
|
| Personal utility in genomic testing: a systematic literature review |
|
|
|
|
|
|
|
|
|
| A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations |
|
|
|
|
|
|
|
|
|
| Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype |
|
|
|
|
|
|
|
|
|
| Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death |
|
|
|
|
|
|
|
|
|
| Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy |
|
|
|
|
|
|
|
|
|
| A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population |
|
|
|
|
|
|
|
|
|
| Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy |
|
|
|
|
|
|
|
|
|
| Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula |
|
|
|
|
|
|
|
|
|
| European registration process for Clinical Laboratory Geneticists in genetic healthcare |
|
|
|
|
|
|
|
|
|
| Paternity testing under the cloak of recreational genetics |
|
|
|
|
|
|
|
|
|
| Prediction of years of life after diagnosis of breast cancer using omics and omic-by-treatment interactions |
|
|
|
|
|
|
|
|
|
| Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease |
|
|
|
|
|
|
|
|
|
| Genetics of the peloponnesean populations and the theory of extinction of the medieval peloponnesean Greeks |
|
|
|
|
|
|
|
|
|
| Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population |
|
|
|
|
|
|
✓ |
|
Sardinian population |
| Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract |
|
|
|
|
|
|
|
|
|
| tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy |
|
|
|
|
|
|
|
|
|
| Diagnostic exome sequencing in 266 Dutch patients with visual impairment |
|
|
|
|
|
|
|
|
|
| Prevalence of congenital amusia |
|
|
|
|
|
|
|
|
|
| MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome |
|
|
|
|
|
|
|
|
|
| Coffee consumption is associated with DNA methylation levels of human blood |
|
|
|
|
|
|
|
|
|
| Erratum: Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion |
|
|
|
|
|
|
|
|
|
| Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders |
|
|
|
|
|
|
|
|
|
| A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data |
|
|
|
|
|
|
|
|
|
| Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome |
|
|
|
|
|
|
|
|
|
| Recontacting in clinical genetics and genomic medicine? We need to talk about it |
|
|
|
|
|
|
|
|
|
| Securing the use of existing sample collections for future human genetic research |
|
|
|
|
|
|
|
|
|
| Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavum |
|
|
|
|
|
|
|
|
|
| Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom |
|
|
|
|
|
|
|
|
|
| Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas |
|
|
|
|
|
|
|
|
|
| Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals |
|
|
|
|
|
|
|
|
|
| Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond |
|
|
|
|
|
|
|
|
|
| Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers |
|
|
|
|
|
|
|
|
|
| Loss of Function of KCNC1 is associated with intellectual disability without seizures |
|
|
|
|
|
|
|
|
|
| Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage |
|
|
|
|
|
|
|
|
|
| Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes |
|
|
|
|
|
|
|
|
|
| From exomes to genomes: challenges and solutions in population-based genetic association studies |
|
|
|
|
|
|
|
|
|
| Signatures of human European Palaeolithic expansion shown by resequencing of non-recombining X-chromosome segments |
|
|
|
|
✓ |
|
|
|
human European Palaeolithic expansion |
| Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children |
|
|
|
|
|
|
|
|
|
| Characterising private and shared signatures of positive selection in 37 Asian populations |
|
|
|
|
|
|
|
|
|
| A survey of sub-Saharan gene flow into the Mediterranean at risk loci for coronary artery disease |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches |
|
|
|
|
|
|
|
|
|
| Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome |
|
|
|
|
|
|
|
|
|
| Of dogs and men |
|
|
|
|
|
|
|
|
|
| Association analysis of dyslexia candidate genes in a Dutch longitudinal sample |
|
|
|
|
|
|
|
|
|
| Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for: Cantú syndrome |
|
|
|
|
|
|
|
|
|
| Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom |
|
|
|
|
|
|
|
|
|
| Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy |
|
|
|
|
|
|
|
|
|
| Reply to Walsh et al |
|
|
|
|
|
|
|
|
|
| FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study |
|
|
|
|
✓ |
|
|
|
central European |
| Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene |
|
|
|
|
|
|
|
|
|
| Update on a previously reported male with a FLNA missense mutation |
|
|
|
|
|
|
|
|
|
| Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy |
|
|
|
|
|
|
|
|
|
| Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project |
|
|
|
|
|
|
|
|
|
| Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A |
|
|
|
|
|
|
|
|
|