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	621
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population	172
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes	167
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics	75
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics	68
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome	64
Estimation of the number of people with Down syndrome in Europe	64
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort	62
Barriers and facilitators for cascade testing in genetic conditions: a systematic review	61
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	58
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)	56
The LOVD3 platform: efficient genome-wide sharing of genetic variants	54
Reflections on dynamic consent in biomedical research: the story so far	52
Sex-specific genetic effects across biomarkers	50
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency	49
Recommendations for whole genome sequencing in diagnostics for rare diseases	48
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	47
Understanding the assumptions underlying Mendelian randomization	44
A comparison of genotyping arrays	44
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases	41
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents	40
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs	40
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation	40
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	38

Rapid genomic testing for critically ill children: time to become standard of care?	37
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data	36
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	36
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	35
EMQN best practice guidelines for genetic testing in dystrophinopathies	35
MobiDetails: online DNA variants interpretation	34
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research	33
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research	33
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots	32
Analysis of large-language model versus human performance for genetics questions	32
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection	31
Atrial fibrillation—a complex polygenetic disease	31
Long-read trio sequencing of individuals with unsolved intellectual disability	28
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	28
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges	28
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	28
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy	27
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group	27
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany	27
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?	26
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide	25
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
Differences in local population history at the finest level: the case of the Estonian population	24
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome	24
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family	23
Polygenic risk modeling for prediction of epithelial ovarian cancer risk	23
Future-proofing biobanks’ governance	23
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia	23
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	22
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders	22
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis	22
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies	22
Inflammasome genetics and complex diseases: a comprehensive review	22
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation	21
A tool for translating polygenic scores onto the absolute scale using summary statistics	21
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?	21
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning	21
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England	21
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing	20
An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults	20
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	20
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers	20
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)	20
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	20
The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review	20
Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand	20
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features	20
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories	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
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy	19
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants	19
Combining callers improves the detection of copy number variants from whole-genome sequencing	19
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	19
Connecting data, tools and people across Europe: ELIXIR’s response to the COVID-19 pandemic	18
Genetic analysis of ALS cases in the isolated island population of Malta	18
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease	18
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing	18
Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands	18
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
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research	17
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes	17
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications	17
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines	17
Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third	16
Recommendations for reporting results of diagnostic genomic testing	16
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients	16
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes	16
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency	16
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives	16
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	16
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome	16
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility	16
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype	16
The stepwise process of integrating a genetic counsellor into primary care	16
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes	15
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development	15
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome	15
Quality of life drives patients’ preferences for secondary findings from genomic sequencing	15
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals	15
High-resolution population-specific recombination rates and their effect on phasing and genotype imputation	14
The effect of sample size on polygenic hazard models for prostate cancer	14
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	14
Parents’ experiences of decision making for rapid genomic sequencing in intensive care	14
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study	14
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments	14
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1	14
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience	14
Clinical delineation of SETBP1 haploinsufficiency disorder	14
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia	14
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1	14
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease	14
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease	13
Host genetic basis of COVID-19: from methodologies to genes	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
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes	13
Polygenic risk modeling with latent trait-related genetic components	13
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	13
Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer	13
Homozygous variants in PANX1 cause human oocyte death and female infertility	13
The VODAN IN: support of a FAIR-based infrastructure for COVID-19	13
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis	12
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	12
The genetic landscape of polycystic kidney disease in Ireland	12
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome	12
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card	12
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	12
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients	12
Genetic discrimination still casts a large shadow in 2022	12
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis	12
Gene-lifestyle interactions in the genomics of human complex traits	12
AAV-mediated FOXG1 gene editing in human Rett primary cells	12
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome	12
Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins	12
Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study	12
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland	12
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours	12
The 2019 and 2021 International Workshops on Alport Syndrome	12
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	12
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data	12
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	11
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis	11
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity	11
The ethics of genomic medicine: redefining values and norms in the UK and France	11
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders	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
Allelic imbalance of HLA-B expression in human lung cells infected with coronavirus and other respiratory viruses	11

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network	11
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS	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
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility	11
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome	11
The genetics of rod-cone dystrophy in Arab countries: a systematic review	11
Measuring clinical utility in the context of genetic testing: a scoping review	11
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes	11
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	11
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach	10
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study	10
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras	10
Host genomics of SARS-CoV-2 infection	10
Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet	10
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation	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
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?	10
International transfers of personal data for health research following Schrems II: a problem in need of a solution	10
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren	10
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions	10
Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities	10
Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project	10
COVID-19 and Down’s syndrome: are we heading for a disaster?	10
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis	10
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants	10
Wilms tumor in patients with osteopathia striata with cranial sclerosis	10
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum	10
The genetic structure of Norway	10
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	10
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant	10
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy	10
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate	10
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research	10
A human case of GIMAP6 deficiency: a novel primary immune deficiency	10
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility	9
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection	9
Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives	9
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome	9
Genetic modifiers in rare disorders: the case of fragile X syndrome	9
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma	9
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?	9
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings	9
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer	9
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain	9
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA	9
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	9
Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services	9
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project	9
The genetic and evolutionary determinants of COVID-19 susceptibility	9
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711	9
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features	9
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene	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
Development and use of the Australian reproductive genetic carrier screening decision aid	9
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study	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
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
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival	8
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome	8
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity	8
Is HSPG2 a modifier gene for Marfan syndrome?	8
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene	8
What people really change after genetic testing (GT) performed in private labs: results from an Italian study	8
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study	8
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores	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
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review	8
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy	8
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?	8
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes	8
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health	8
Genomic health data generation in the UK: a 360 view	8
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis	8
Genetics of diaphragmatic hernia	8
Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy	8
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	8
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature	8
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	8
Solving the unsolved rare diseases in Europe	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
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe	8
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling	8
Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review	8