European Journal of Human Genetics

Article	Citations
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population	175
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics	86
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort	69
Estimation of the number of people with Down syndrome in Europe	68
Barriers and facilitators for cascade testing in genetic conditions: a systematic review	64
The LOVD3 platform: efficient genome-wide sharing of genetic variants	60
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	60
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)	60
Reflections on dynamic consent in biomedical research: the story so far	58
Recommendations for whole genome sequencing in diagnostics for rare diseases	53
Sex-specific genetic effects across biomarkers	53
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency	53
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	52
Understanding the assumptions underlying Mendelian randomization	52
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs	49
A comparison of genotyping arrays	46
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases	45
Stepwise ABC system for classification of any type of genetic variant	43
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	43
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents	41
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation	41
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	40
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	39
Analysis of large-language model versus human performance for genetics questions	39
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data	39

‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research	38
Rapid genomic testing for critically ill children: time to become standard of care?	37
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	36
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection	36
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research	36
MobiDetails: online DNA variants interpretation	35
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots	35
Atrial fibrillation—a complex polygenetic disease	34
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	34
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	34
Long-read trio sequencing of individuals with unsolved intellectual disability	31
Speech and language deficits are central to SETBP1 haploinsufficiency disorder	30
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany	30
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy	28
Differences in local population history at the finest level: the case of the Estonian population	27
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre	27
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?	27
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	26
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers	25
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family	25
A tool for translating polygenic scores onto the absolute scale using summary statistics	25
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	25
Polygenic risk modeling for prediction of epithelial ovarian cancer risk	24
Recommendations for reporting results of diagnostic genomic testing	24
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders	24
An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults	24
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?	22
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies	22
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England	22
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis	22
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning	21
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories	21
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)	21
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing	21
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	21
Combining callers improves the detection of copy number variants from whole-genome sequencing	20
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	20
The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review	20
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines	20
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes	20
Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand	20
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes	19
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants	19
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms	19
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study	19
Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands	19
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease	19
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype	18
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications	18
Genetic analysis of ALS cases in the isolated island population of Malta	18

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder	18
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing	18
Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third	17
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients	17
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome	17
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	17
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research	17
Clinical delineation of SETBP1 haploinsufficiency disorder	17
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	17
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes	17
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives	17
Gene-lifestyle interactions in the genomics of human complex traits	17
The stepwise process of integrating a genetic counsellor into primary care	17
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility	16
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia	16
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development	16
The 2019 and 2021 International Workshops on Alport Syndrome	16
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	16
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency	16
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals	16
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease	16
Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer	15
Genetic discrimination still casts a large shadow in 2022	15
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis	15
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease	15
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study	15
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome	15
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience	15
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes	15
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients	14
High-resolution population-specific recombination rates and their effect on phasing and genotype imputation	14
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments	14
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1	14
Parents’ experiences of decision making for rapid genomic sequencing in intensive care	14
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	14
Polygenic risk modeling with latent trait-related genetic components	14
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	14
Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins	14
Host genetic basis of COVID-19: from methodologies to genes	14
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data	14
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1	14
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras	13
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	13
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours	13
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores	13
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study	13
Homozygous variants in PANX1 cause human oocyte death and female infertility	13
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis	13
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis	13
The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting	13
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	12
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis	12
Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study	12
International transfers of personal data for health research following Schrems II: a problem in need of a solution	12
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum	12
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility	12
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome	12
Host genomics of SARS-CoV-2 infection	12
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study	12
The genetics of rod-cone dystrophy in Arab countries: a systematic review	12
The genetic landscape of polycystic kidney disease in Ireland	12
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes	12
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren	12
Regulatory landscape of providing information on newborn screening to parents across Europe	12
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	12
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant	12
The ethics of genomic medicine: redefining values and norms in the UK and France	12
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes	12
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders	12
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	12
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network	11
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity	11
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	11
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland	11
Allelic imbalance of HLA-B expression in human lung cells infected with coronavirus and other respiratory viruses	11
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation	11
Measuring clinical utility in the context of genetic testing: a scoping review	11
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS	11
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features	11
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency	11

Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions	11
Development and use of the Australian reproductive genetic carrier screening decision aid	11
Wilms tumor in patients with osteopathia striata with cranial sclerosis	11
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?	11
Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project	11
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring	11
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility	11
Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities	11
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations	10
Genetic prediction of male pattern baldness based on large independent datasets	10
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants	10
A human case of GIMAP6 deficiency: a novel primary immune deficiency	10
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss	10
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	10
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians	10
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene	10
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA	10
COVID-19 and Down’s syndrome: are we heading for a disaster?	10
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome	10
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach	10
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy	10
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy	10
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	10
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy	10
The genetic structure of Norway	10
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment	10
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study	10
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research	10
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer	10
Solving the unsolved rare diseases in Europe	10
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene	9
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain	9
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development	9
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing	9
Genetic modifiers in rare disorders: the case of fragile X syndrome	9
The genetic and evolutionary determinants of COVID-19 susceptibility	9
Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review	9
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review	9
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%	9
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes	9
Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives	9
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma	9
Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services	9
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy	9
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711	9
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings	9
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection	9
Genomic health data generation in the UK: a 360 view	9
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study	9
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis	9
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project	9
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies	9
Informing relatives of their genetic risk: an examination of the Belgian legal context	9
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1	8
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia	8
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective	8
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature	8
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity	8
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia	8
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	8
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling	8
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations	8
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing	8
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder	8
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum	8
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants	8
Non-invasive prenatal testing in Germany: a unique ethical and policy landscape	8
What people really change after genetic testing (GT) performed in private labs: results from an Italian study	8
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism	8
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	8
Genetics of diaphragmatic hernia	8
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered	8
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival	8
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)	8
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?	8
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health	8
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe	8
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	8
Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy	8
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment	7
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability	7
Episignature analysis of moderate effects and mosaics	7
An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes	7
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	7
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency	7
Motives for withdrawal of participation in biobanking and participants’ willingness to allow linkages of their data	7
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome	7
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child	7
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group	7
The question of WGS’s clinical utility remains unanswered	7
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	7
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate	7
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	7
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome	7
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members	7