European Journal of Human Genetics

(The median citation count of European Journal of Human Genetics is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)
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 pandemic615
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population171
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes162
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics72
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics67
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort62
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome62
Estimation of the number of people with Down syndrome in Europe61
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria56
Barriers and facilitators for cascade testing in genetic conditions: a systematic review55
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)54
The LOVD3 platform: efficient genome-wide sharing of genetic variants52
Sex-specific genetic effects across biomarkers49
Reflections on dynamic consent in biomedical research: the story so far48
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency48
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases46
Recommendations for whole genome sequencing in diagnostics for rare diseases45
A comparison of genotyping arrays41
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases40
Understanding the assumptions underlying Mendelian randomization40
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation39
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents39
Stepwise ABC system for classification of any type of genetic variant38
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice37
Rapid genomic testing for critically ill children: time to become standard of care?37
EMQN best practice guidelines for genetic testing in dystrophinopathies35
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data35
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs35
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data34
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis33
MobiDetails: online DNA variants interpretation33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research33
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer32
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots32
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research31
Atrial fibrillation—a complex polygenetic disease30
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection30
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges28
Analysis of large-language model versus human performance for genetics questions28
Willingness to donate genomic and other medical data: results from Germany27
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability27
Long-read trio sequencing of individuals with unsolved intellectual disability27
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany26
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group26
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders26
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy26
Speech and language deficits are central to SETBP1 haploinsufficiency disorder25
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre25
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide25
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics24
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 dyskinesia23
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome23
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family23
Polygenic risk modeling for prediction of epithelial ovarian cancer risk22
Future-proofing biobanks’ governance22
Differences in local population history at the finest level: the case of the Estonian population22
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis22
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 disorders21
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process21
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England21
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation21
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies21
An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults20
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features20
Inflammasome genetics and complex diseases: a comprehensive review20
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning20
Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand20
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON19
The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review19
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories19
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions19
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers19
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms19
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing19
A tool for translating polygenic scores onto the absolute scale using summary statistics18
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease18
The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure18
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants18
Combining callers improves the detection of copy number variants from whole-genome sequencing18
Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands18
Connecting data, tools and people across Europe: ELIXIR’s response to the COVID-19 pandemic18
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)18
Genetic analysis of ALS cases in the isolated island population of Malta18
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications17
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy17
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study17
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes17
BBMRI-ERIC’s contributions to research and knowledge exchange on COVID-1917
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder17
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing17
Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third16
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility16
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients16
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency16
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes16
Recommendations for reporting results of diagnostic genomic testing16
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype16
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines15
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes15
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development15
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes15
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome15
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives15
The stepwise process of integrating a genetic counsellor into primary care15
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals15
Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank14
Clinical delineation of SETBP1 haploinsufficiency disorder14
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME114
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research14
High-resolution population-specific recombination rates and their effect on phasing and genotype imputation14
Parents’ experiences of decision making for rapid genomic sequencing in intensive care14
Quality of life drives patients’ preferences for secondary findings from genomic sequencing14
The effect of sample size on polygenic hazard models for prostate cancer14
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission13
Homozygous variants in PANX1 cause human oocyte death and female infertility13
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome13
Assessing the stability of biobank donor preferences regarding sample use: evidence supporting the value of dynamic consent13
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments13
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients13
The VODAN IN: support of a FAIR-based infrastructure for COVID-1913
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience13
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study13
Polygenic risk modeling with latent trait-related genetic components13
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia13
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease13
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes12
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis12
The 2019 and 2021 International Workshops on Alport Syndrome12
Host genetic basis of COVID-19: from methodologies to genes12
AAV-mediated FOXG1 gene editing in human Rett primary cells12
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns12
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome12
Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins12
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update12
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome12
The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting12
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment12
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP112
Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer12
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis12
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours12
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card12
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar12
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data12
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis11
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS11
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes11
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease11
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland11
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes11
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency11
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network11
Measuring clinical utility in the context of genetic testing: a scoping review11
The genetic landscape of polycystic kidney disease in Ireland11
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring11
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants10
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research10
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach10
International transfers of personal data for health research following Schrems II: a problem in need of a solution10
Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet10
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients10
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren10
Host genomics of SARS-CoV-2 infection10
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis10
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning10
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment10
Wilms tumor in patients with osteopathia striata with cranial sclerosis10
The ethics of genomic medicine: redefining values and norms in the UK and France10
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum10
Gene-lifestyle interactions in the genomics of human complex traits10
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions10
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy10
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility10
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome10
Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities10
COVID-19 and Down’s syndrome: are we heading for a disaster?10
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate10
A human case of GIMAP6 deficiency: a novel primary immune deficiency10
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study10
Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project10
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders10
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome10
Regulatory landscape of providing information on newborn screening to parents across Europe10
Allelic imbalance of HLA-B expression in human lung cells infected with coronavirus and other respiratory viruses10
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A210
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant10
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras9
Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study9
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma9
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study9
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy9
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings9
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene9
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA9
The genetic structure of Norway9
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study9
Genetic modifiers in rare disorders: the case of fragile X syndrome9
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation9
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 review9
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield9
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians9
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy9
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly9
Genetic discrimination still casts a large shadow in 20229
Development and use of the Australian reproductive genetic carrier screening decision aid9
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project9
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 context9
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan9
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain9
Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives9
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores8
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare8
Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services8
Genetics of diaphragmatic hernia8
Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review8
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review8
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility8
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features8
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 view8
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene8
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes8
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot8
Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary8
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 18
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival8
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature8
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer8
Solving the unsolved rare diseases in Europe8
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study8
What people really change after genetic testing (GT) performed in private labs: results from an Italian study8
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe8
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies8
Judging in the genomic era: judges’ genetic knowledge, confidence and need for training8
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing8
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy8
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome8
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection8
Is HSPG2 a modifier gene for Marfan syndrome?8
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)7
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity7
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group7
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency7
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland7
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members7
The question of WGS’s clinical utility remains unanswered7