| Genetic analysis of ALS cases in the isolated island population of Malta |
|
|
|
|
|
|
|
|
south of Europe |
| Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders |
|
|
|
|
|
|
|
|
|
| ‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research |
|
|
|
|
|
|
|
|
|
| A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| The impact of needs-based education on the change of knowledge and attitudes towards medical genetics in medical students |
|
|
|
|
|
|
|
|
|
| Correction to: Origins, admixture and founder lineages in European Roma |
|
|
|
|
✓ |
|
|
|
European Roma |
| A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes |
|
|
|
|
|
|
|
|
|
| The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice |
|
|
|
|
|
|
|
|
|
| Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health |
|
|
|
|
|
|
|
|
|
| Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study |
|
|
|
|
|
|
|
|
|
| 30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes |
|
|
|
|
|
|
|
|
|
| Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss |
|
|
|
|
|
|
|
|
|
| A polygenic risk score for multiple myeloma risk prediction |
|
|
|
|
|
|
|
|
|
| New year, new issue |
|
|
|
|
|
|
|
|
|
| Genomics elucidates both common and rare disease aetiology |
|
|
|
|
|
|
|
|
|
| Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making |
|
|
|
|
|
|
|
|
|
| Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON |
|
|
|
|
|
|
|
|
|
| Deafness—family matters |
|
|
|
|
|
|
|
|
|
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria |
|
|
|
|
|
|
✓ |
✓ |
Yoruba ethno-lingual ancestry; Sub-Saharan regions of Africa; Yoruba samples; cohort; population |
| A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial |
|
|
|
|
|
|
|
|
|
| Motives for withdrawal of participation in biobanking and participants’ willingness to allow linkages of their data |
|
|
|
|
|
|
|
|
|
| Invited Commentary on “My Research Results: a program to facilitate return of clinically actionable genomic research findings” by Willis et al. |
|
|
|
|
|
|
|
|
|
| Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt |
|
|
|
|
|
|
|
|
|
| Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus |
|
|
|
|
|
|
|
|
|
| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs |
|
|
|
|
|
|
|
|
|
| Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network |
|
|
|
|
|
|
|
|
|
| Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health |
|
|
|
|
|
|
|
|
|
| DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients |
|
|
|
|
|
|
|
|
|
| Taking seriousness seriously in genomic health |
|
|
|
|
|
|
|
|
|
| Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency |
|
|
|
|
|
|
|
|
|
| Rapid genomic testing for critically ill children: time to become standard of care? |
|
|
|
|
|
|
|
|
|
| Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability |
|
|
|
|
|
|
|
|
|
| Combining callers improves the detection of copy number variants from whole-genome sequencing |
|
|
|
|
|
|
|
|
|
| Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis |
|
|
|
|
|
|
|
|
|
| Development and use of the Australian reproductive genetic carrier screening decision aid |
|
|
|
|
|
|
|
|
|
| An all-encompassing variant classification system proposed |
|
|
|
|
|
|
|
|
|
| Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes |
|
|
|
|
|
|
|
|
|
| ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum |
|
|
|
|
|
|
|
|
|
| Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study |
|
|
|
|
|
|
|
|
|
| Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals |
|
|
|
|
|
|
|
|
|
| Exploiting family history in aggregation unit-based genetic association tests |
|
|
|
|
|
|
|
|
|
| Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain |
|
|
|
|
|
|
|
|
|
| Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders |
|
|
|
|
|
|
✓ |
✓ |
German cohort |
| Genomic health data generation in the UK: a 360 view |
|
|
|
|
|
|
|
|
|
| Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature |
|
|
|
|
|
|
|
|
|
| Familial cleft tongue caused by a unique translation initiation codon variant in TP63 |
|
|
|
|
|
|
|
|
|
| Genetics of diaphragmatic hernia |
|
|
|
|
|
|
|
|
|
| SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo |
|
|
|
|
|
|
✓ |
✓ |
southern Europe; Europe; Mediterranean countries; Maltese population; North-South gradient |
| Genotyping arrays, population genetic studies and clinical implications |
|
|
|
|
|
|
|
|
|
| The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review |
|
|
|
|
|
|
|
|
|
| My Research Results: a program to facilitate return of clinically actionable genomic research findings |
|
|
|
|
|
|
|
|
|
| Cascade screening for beta-thalassaemia in Pakistan: relatives’ experiences of a decision support intervention in routine practice |
|
|
|
|
|
|
|
|
|
| Correction: Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany |
|
|
|
|
|
|
|
|
|
| Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone) |
|
|
|
|
|
|
|
|
|
| What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions |
|
|
|
|
|
|
|
|
|
| Crosstalk between BH4, pain, and dystonia |
|
|
|
|
|
|
|
|
|
| Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study |
|
|
|
|
|
|
|
|
|
| A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy |
|
|
|
|
|
|
|
|
|
| The LOVD3 platform: efficient genome-wide sharing of genetic variants |
|
|
|
|
|
|
|
|
|
| Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON |
|
|
|
|
|
|
|
|
|
| Alkaptonuria in Russia |
|
|
|
|
|
|
|
|
|
| Fond farewell to clinical utility gene cards |
|
|
|
|
|
|
|
|
|
| Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2 |
|
|
|
|
|
|
|
|
|
| A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency |
|
|
|
|
|
|
|
|
|
| TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility |
|
|
|
|
|
|
|
|
|
| Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database |
|
|
|
|
|
|
✓ |
✓ |
Icelandic; Icelanders |
| Australian human research ethics committee members’ confidence in reviewing genomic research applications |
|
|
|
|
|
|
|
|
|
| Cascade health service use in family members following genetic testing in children: a scoping literature review |
|
|
|
|
|
|
|
|
|
| A new impact factor for European Journal of Human Genetics |
|
|
|
|
|
|
|
|
|
| Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint |
|
|
|
|
|
|
|
|
|
| Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency |
|
|
|
|
|
|
|
|
|
| Parents’ experiences of decision making for rapid genomic sequencing in intensive care |
|
|
|
|
|
|
|
|
|
| Speech, language and communication phenotyping in rare genetic syndromes: Commentary on Speech and language deficits are central to SETBP1 haploinsufficiency disorder |
|
|
|
|
|
|
|
|
|
| Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability |
|
|
|
|
|
|
|
|
|
| Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility |
|
|
|
|
|
|
|
|
|
| Correction to: Towards a fine-scale picture of European genetic diversity |
|
|
|
|
|
|
|
|
|
| Non-invasive prenatal testing (NIPT) and pregnant women’s views on good motherhood: a qualitative study |
|
|
|
|
|
|
|
|
|
| Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data |
|
|
|
|
|
|
|
|
|
| Physicians’ perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative study |
|
|
|
|
|
|
|
|
|
| Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases |
|
|
|
|
|
|
|
|
|
| Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives |
|
|
|
|
|
|
|
|
|
| The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability |
|
|
|
|
|
|
|
|
|
| IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder |
|
|
|
|
|
|
✓ |
✓ |
Finnish family |
| Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk |
|
|
|
|
|
|
|
|
|
| Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency |
|
|
|
|
|
|
|
|
|
| Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases |
|
|
|
|
|
|
|
|
|
| Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants |
|
|
|
|
|
|
|
|
|
| Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning |
|
|
|
|
|
|
|
|
|
| Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling |
|
|
|
|
|
|
|
|
|
| Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results? |
|
|
|
|
|
|
|
|
|
| Clinical genetics—it’s polygenic |
|
|
|
|
|
|
|
|
|
| A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours |
|
|
|
|
|
|
|
|
|
| Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis |
|
|
|
|
|
|
|
|
|
| Allele frequency differentiation at height-associated SNPs among continental human populations |
|
|
|
|
|
|
|
|
|
| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone) |
|
|
|
|
|
|
|
|
|
| Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2 |
|
|
|
|
|
|
|
|
|
| Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features |
|
|
|
|
|
|
|
|
|
| Parent clinical trial priorities for fragile X syndrome: a best–worst scaling |
|
|
|
|
|
|
|
|
|
| Solving the unsolved rare diseases in Europe |
|
|
|
|
|
|
|
|
|
| Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most? |
|
|
|
|
|
|
|
|
|
| A comparison of genotyping arrays |
|
|
|
|
|
✓ |
|
|
European and African populations |
| Mapping pleiotropic loci using a fast-sequential testing algorithm |
|
|
|
✓ |
|
✓ |
|
|
white European participants |
| ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment |
|
|
|
|
|
|
|
|
|
| Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer |
|
|
|
|
|
|
|
|
|
| Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives |
|
|
|
|
|
|
|
|
|
| Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation |
|
|
|
|
|
|
|
|
|
| PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders |
|
|
|
|
|
|
|
|
|
| Contribution of common risk variants to multiple sclerosis in Orkney and Shetland |
|
|
|
|
|
|
|
|
|
| A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis |
|
|
|
|
|
|
|
|
|
| Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) |
|
|
|
|
|
|
|
|
|
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data |
|
|
|
|
|
|
|
|
|
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases |
|
|
|
|
✓ |
✓ |
|
|
pan-European; European Reference Networks; Europe; European |
| A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report |
|
|
|
|
|
|
|
|
|
| Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery |
|
|
|
|
|
|
|
|
|
| Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for: Long-QT syndrome |
|
|
|
|
|
|
|
|
|
| Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data |
|
|
|
|
|
|
|
|
|
| Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services |
|
|
|
|
|
|
|
|
|
| Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency |
|
|
|
|
|
|
|
|
|
| Clinical genomics—but faster |
|
|
|
|
|
|
|
|
|
| The genetic structure of Norway |
|
|
|
|
|
|
✓ |
✓ |
Uralic Sami ancestry; Norwegian population; Scandinavian; mainland Europe |
| Balancing scientific interests and the rights of participants in designing a recall by genotype study |
|
|
|
|
|
|
|
|
|
| Stepwise ABC system for classification of any type of genetic variant |
|
|
|
|
|
|
|
|
|
| Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia |
|
|
|
|
|
|
|
|
|
| Out now in May’s EJHG |
|
|
|
|
|
|
|
|
|
| Solving unsolved rare neurological diseases—a Solve-RD viewpoint |
|
|
|
|
|
|
|
|
|
| Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes |
|
|
|
|
|
|
|
|
northern and eastern Europe |
| Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss |
|
|
|
|
|
|
|
|
|
| Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C |
|
|
|
|
|
|
|
|
|
| Evidence of mosaicism in SPAST variant carriers in four French families |
|
|
|
|
|
|
|
|
|
| International transfers of personal data for health research following Schrems II: a problem in need of a solution |
|
|
|
|
|
|
|
|
|
| Correction to: Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) variant |
|
|
|
|
|
|
|
|
|
| Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia |
|
|
|
|
|
|
|
|
|
| Speech and language deficits are central to SETBP1 haploinsufficiency disorder |
|
|
|
|
|
|
|
|
|
| How do non-geneticist physicians deal with genetic tests? A qualitative analysis |
|
|
|
|
|
|
|
|
|
| Identifying challenges in neurofibromatosis: a modified Delphi procedure |
|
|
|
|
|
|
|
|
|
| Toward the diagnosis of rare childhood genetic diseases: what do parents value most? |
|
|
|
|
|
|
|
|
|
| A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract |
|
|
|
|
|
|
|
|
|
| Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms |
|
|
|
|
|
|
|
|
|
| Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members |
|
|
|
|
|
|
|
|
|
| Clinical delineation of SETBP1 haploinsufficiency disorder |
|
|
|
|
|
|
|
|
|
| Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe |
|
|
|
|
|
|
|
|
|
| Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection |
|
|
|
|
|
|
|
|
|
| Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria |
|
|
|
|
|
|
|
|
|
| Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2 |
|
|
|
|
|
|
|
|
|
| Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer |
|
|
|
|
|
|
|
|
|
| What people really change after genetic testing (GT) performed in private labs: results from an Italian study |
|
|
|
|
|
|
|
|
|
| Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis |
|
|
|
|
|
|
|
|
|
| Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications |
|
|
|
|
|
|
|
|
|
| What’s new in EJHG in April |
|
|
|
|
|
|
|
|
|
| Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data |
|
|
|
|
|
✓ |
|
|
European rural areas |
| Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations |
|
|
|
|
|
|
|
|
|
| Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population |
|
|
|
|
|
|
|
|
|
| Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras |
|
|
|
|
|
|
|
|
|
| Reply to Lao Q and Merke DP |
|
|
|
|
|
|
|
|
|
| Evaluating the monogenic contribution and genotype–phenotype correlation in patients with isolated thoracic aortic aneurysm |
|
|
|
|
|
|
|
|
|
| Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders |
|
|
|
|
|
|
|
|
|
| Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia |
|
|
|
|
|
|
|
|
|
| Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment |
|
|
|
|
|
|
|
|
|
| Stakeholders’ views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology |
|
|
|
|
|
|
|
|
|
| Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant |
|
|
|
|
|
|
|
|
|
| Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation |
|
|
|
|
|
|
|
|
|
| Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings |
|
|
|
|
|
|
|
|
|
| Peter Harper |
|
|
|
|
|
|
|
|
|
| Reviewer recognition |
|
|
|
|
|
|
|
|
|
| Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
|
|
|
|
|
|
|
|
|
| Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease |
|
|
|
|
|
✓ |
✓ |
✓ |
European descent; European GWAS; Europeans; East Asian; Japanese |
| Correction: Long-read trio sequencing of individuals with unsolved intellectual disability |
|
|
|
|
|
|
|
|
|
| Remembering GertJan van Ommen |
|
|
|
|
|
|
|
|
|
| Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Albert de la Chapelle (1933–2020) |
|
|
|
|
|
|
|
|
|
| The Ami and Yami aborigines of Taiwan and their genetic relationship to East Asian and Pacific populations |
|
|
|
|
|
|
|
|
|
| Unraveling a fine-scale high genetic heterogeneity and recent continental connections of an Arabian Peninsula population |
|
|
|
|
|
|
✓ |
✓ |
sub-Saharan/Western Africa; West Eurasia; Arabian Peninsula; Kuwait population; continental |
| Analysis of HLA gene polymorphisms in East Africans reveals evidence of gene flow in two Semitic populations from Sudan |
|
|
|
|
|
|
|
|
|
| Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot model based on hearing loss genes deletions |
|
|
|
|
|
|
|
|
|
| Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes |
|
|
|
|
|
|
|
|
|
| Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates |
|
|
|
|
|
|
|
|
|
| Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre |
|
|
|
|
|
|
|
|
|
| Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder |
|
|
|
|
|
|
|
|
|
| Correction: Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank |
|
|
|
|
|
|
|
|
|
| Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency |
|
|
|
|
|
✓ |
✓ |
✓ |
European population; Irish population; Japan; Iceland; Japanese |
| Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects |
|
|
|
|
|
|
|
|
|
| The limits of normal approximation for adult height |
|
|
|
|
|
|
|
|
|
| Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins |
|
|
|
|
|
✓ |
✓ |
✓ |
European ancestry; European descent; Han Chinese |
| Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives |
|
|
|
|
|
|
|
|
|
| MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency |
|
|
|
|
|
|
|
|
|
| Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development |
|
|
|
|
|
|
|
|
|
| Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes |
|
|
|
|
|
|
|
|
|
| Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants |
|
|
|
|
|
|
|
|
|
| Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for FRMD7-related infantile nystagmus |
|
|
|
|
|
|
|
|
|
| Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers |
|
|
|
|
|
|
✓ |
|
Eurasian Steppe |
| Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities |
|
|
|
|
|
|
|
|
|
| The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study |
|
|
|
|
|
|
|
|
|
| Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant |
|
|
|
|
|
|
|
|
|
| Stakeholder views on opportunistic genomic screening in the Netherlands: a qualitative study |
|
|
|
|
|
|
|
|
|
| Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants |
|
|
|
|
|
|
|
|
|
| Normalising life at risk of Huntington’s disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination |
|
|
|
|
|
|
|
|
|
| The question of WGS’s clinical utility remains unanswered |
|
|
|
|
|
|
|
|
|
| Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies |
|
|
|
|
|
|
|
|
|
| Correction: ESHG warns against misuses of genetic tests and biobanks for discrimination purposes |
|
|
|
|
|
|
|
|
|
| ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy |
|
|
|
|
|
|
|
|
|
| Reply letter to Battke et al. |
|
|
|
|
|
|
|
|
|
| The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting |
|
|
|
|
|
|
|
|
|
| Polygenic risk modeling with latent trait-related genetic components |
|
|
|
|
|
|
|
|
|
| Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Origins of human genetics. A personal perspective |
|
|
|
|
|
|
|
|
|
| Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update |
|
|
|
|
|
|
|
|
|
| Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions |
|
|
|
|
|
|
|
|
|
| Semi-parametric empirical Bayes factor for genome-wide association studies |
|
|
|
|
|
|
|
|
|
| Homozygous variants in PANX1 cause human oocyte death and female infertility |
|
|
|
|
|
|
|
|
|
| Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research |
|
|
|
|
|
|
|
|
|
| Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research |
|
|
|
|
|
|
|
|
|
| Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy |
|
|
|
|
|
|
|
|
|
| The ethics of genomic medicine: redefining values and norms in the UK and France |
|
|
|
|
|
|
|
|
|
| The genetic landscape of polycystic kidney disease in Ireland |
|
|
|
|
|
|
|
|
|
| In Memoriam: Gertjan van Ommen (1947–2020) |
|
|
|
|
|
|
|
|
|
| A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals |
|
|
|
|
|
|
|
|
|
| ESHG warns against misuses of genetic tests and biobanks for discrimination purposes |
|
|
|
|
|
|
|
|
|
| Reply to Veitia |
|
|
|
|
|
|
|
|
|
| A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes? |
|
|
|
|
|
|
|
|
|
| Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype |
|
|
|
|
|
|
|
|
|
| Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing |
|
|
|
|
|
|
|
|
|
| Extension of SKAT to multi-category phenotypes through a geometrical interpretation |
|
|
|
|
|
|
|
|
|
| Correction: Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third |
|
|
|
|
|
|
|
|
|