European Journal of Human Genetics

Article	Citations
The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic	615
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population	171
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes	162
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics	72
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics	67
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort	62
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome	62
Estimation of the number of people with Down syndrome in Europe	61
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	56
Barriers and facilitators for cascade testing in genetic conditions: a systematic review	55
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)	54
The LOVD3 platform: efficient genome-wide sharing of genetic variants	52
Sex-specific genetic effects across biomarkers	49
Reflections on dynamic consent in biomedical research: the story so far	48
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency	48
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	46
Recommendations for whole genome sequencing in diagnostics for rare diseases	45
A comparison of genotyping arrays	41
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases	40
Understanding the assumptions underlying Mendelian randomization	40
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation	39
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents	39
Stepwise ABC system for classification of any type of genetic variant	38
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	37
Rapid genomic testing for critically ill children: time to become standard of care?	37

EMQN best practice guidelines for genetic testing in dystrophinopathies	35
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data	35
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs	35
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	34
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	33
MobiDetails: online DNA variants interpretation	33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research	33
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	32
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots	32
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research	31
Atrial fibrillation—a complex polygenetic disease	30
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection	30
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges	28
Analysis of large-language model versus human performance for genetics questions	28
Long-read trio sequencing of individuals with unsolved intellectual disability	27
Willingness to donate genomic and other medical data: results from Germany	27
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability	27
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy	26
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany	26
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group	26
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	26
Speech and language deficits are central to SETBP1 haploinsufficiency disorder	25
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre	25
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide	25
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	24
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?	24
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia	23
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome	23
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family	23
Polygenic risk modeling for prediction of epithelial ovarian cancer risk	22
Future-proofing biobanks’ governance	22
Differences in local population history at the finest level: the case of the Estonian population	22
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis	22
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?	21
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders	21
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	21
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England	21
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation	21
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies	21
An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults	20
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features	20
Inflammasome genetics and complex diseases: a comprehensive review	20
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning	20
Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand	20
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing	19
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	19
The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review	19
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories	19
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	19
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers	19

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms	19
Genetic analysis of ALS cases in the isolated island population of Malta	18
A tool for translating polygenic scores onto the absolute scale using summary statistics	18
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease	18
The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure	18
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants	18
Combining callers improves the detection of copy number variants from whole-genome sequencing	18
Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands	18
Connecting data, tools and people across Europe: ELIXIR’s response to the COVID-19 pandemic	18
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)	18
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study	17
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy	17
BBMRI-ERIC’s contributions to research and knowledge exchange on COVID-19	17
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder	17
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	17
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications	17
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing	17
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients	16
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency	16
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes	16
Recommendations for reporting results of diagnostic genomic testing	16
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype	16
Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third	16
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility	16
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development	15
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes	15
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome	15
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives	15
The stepwise process of integrating a genetic counsellor into primary care	15
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals	15
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines	15
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes	15
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research	14
High-resolution population-specific recombination rates and their effect on phasing and genotype imputation	14
Parents’ experiences of decision making for rapid genomic sequencing in intensive care	14
Quality of life drives patients’ preferences for secondary findings from genomic sequencing	14
The effect of sample size on polygenic hazard models for prostate cancer	14
Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank	14
Clinical delineation of SETBP1 haploinsufficiency disorder	14
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1	14
Assessing the stability of biobank donor preferences regarding sample use: evidence supporting the value of dynamic consent	13
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments	13
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	13
The VODAN IN: support of a FAIR-based infrastructure for COVID-19	13
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience	13
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study	13
Polygenic risk modeling with latent trait-related genetic components	13
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia	13
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease	13
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission	13
Homozygous variants in PANX1 cause human oocyte death and female infertility	13
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome	13
Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins	12
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	12
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome	12
The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting	12
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	12
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1	12
Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer	12
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis	12
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours	12
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card	12
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar	12
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data	12
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes	12
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis	12
The 2019 and 2021 International Workshops on Alport Syndrome	12
Host genetic basis of COVID-19: from methodologies to genes	12
AAV-mediated FOXG1 gene editing in human Rett primary cells	12
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	12
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome	12
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease	11
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland	11
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes	11
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency	11
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network	11
Measuring clinical utility in the context of genetic testing: a scoping review	11
The genetic landscape of polycystic kidney disease in Ireland	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
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis	11

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS	11
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes	11
Wilms tumor in patients with osteopathia striata with cranial sclerosis	10
The ethics of genomic medicine: redefining values and norms in the UK and France	10
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum	10
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome	10
Gene-lifestyle interactions in the genomics of human complex traits	10
Allelic imbalance of HLA-B expression in human lung cells infected with coronavirus and other respiratory viruses	10
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy	10
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant	10
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	10
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants	10
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate	10
A human case of GIMAP6 deficiency: a novel primary immune deficiency	10
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study	10
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients	10
Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project	10
Host genomics of SARS-CoV-2 infection	10
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders	10
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	10
Regulatory landscape of providing information on newborn screening to parents across Europe	10
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment	10
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	10
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research	10
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach	10
International transfers of personal data for health research following Schrems II: a problem in need of a solution	10
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions	10
Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet	10
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility	10
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren	10
Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities	10
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis	10
COVID-19 and Down’s syndrome: are we heading for a disaster?	10
Genetic discrimination still casts a large shadow in 2022	9
Development and use of the Australian reproductive genetic carrier screening decision aid	9
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project	9
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?	9
Informing relatives of their genetic risk: an examination of the Belgian legal context	9
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	9
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain	9
Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives	9
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras	9
Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study	9
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma	9
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study	9
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy	9
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings	9
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene	9
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA	9
The genetic structure of Norway	9
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study	9
Genetic modifiers in rare disorders: the case of fragile X syndrome	9
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation	9
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?	9
The genetics of rod-cone dystrophy in Arab countries: a systematic review	9
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	9
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians	9
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy	9
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	9
What people really change after genetic testing (GT) performed in private labs: results from an Italian study	8
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe	8
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies	8
Judging in the genomic era: judges’ genetic knowledge, confidence and need for training	8
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing	8
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy	8
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome	8
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection	8
Is HSPG2 a modifier gene for Marfan syndrome?	8
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores	8
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	8
Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services	8
Genetics of diaphragmatic hernia	8
Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review	8
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review	8
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility	8
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features	8
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?	8
Genomic health data generation in the UK: a 360 view	8
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene	8
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes	8
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	8
Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary	8
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1	8
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival	8
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature	8
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer	8
Solving the unsolved rare diseases in Europe	8
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study	8