European Journal of Human Genetics

Article	Citations
Hitting the heights with CiteScore	126
Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study fr	110
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	103
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	100
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	88
Clinical implementation of polygenic risk scores	76
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	69
Metaplastic breast cancer and BRCA1: first strong evidence of a link	60
Ethics in editorship: lessons from a major retraction incident	58
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature	53
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	53
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	52
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	49
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	47
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	46
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	45
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome	41
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	39
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	38
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models	37
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	36
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	36
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries	35
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	32
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	31

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	30
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	29
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	29
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	29
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	29
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	29
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis	28
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	27
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	26
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	26
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	25
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	25
Johann Gregor Mendel: the victory of statistics over human imagination	25
Opportunistic genomic screening of healthy controls in an Australian biobank	25
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	24
Guidelines for genetic counselling supervision in Europe: a roadmap for ethical, effective, and reflective practice	24
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy	24
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families	24
Correction: A framework for evaluating long-term impact of newborn screening	23
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	23
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	22
Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts	22
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	22
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients	22
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	22
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	21
What’s new in genetics in June 2022?	21
Solving medical mysteries with genomics	21
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	21
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis	21
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	21
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	20
Editorial Déjà Vu: This time, it’s actually ‘what’s new in EJHG in May 2025?’	20
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population	20
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	20
Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome	20
Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	19
Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	19
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?	19
Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants	19
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant	19
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort	19
Correction: Genetic discrimination still casts a large shadow in 2022	19
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	18
Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study	18
Validation structures for sequence variants of uncertain significance in hereditary cancer	18
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	18
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	18
Recommendations for whole genome sequencing in diagnostics for rare diseases	18
Childhood motor speech disorders: who to prioritise for genetic testing	18

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR	18
Importance of critical thinking to understand ChatGPT	18
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review	18
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	18
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Episignature analysis of moderate effects and mosaics	18
Advances in genomic medicine: from diagnosis to patient perspectives	18
Spring in EJHG	17
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	17
A second hotspot for pathogenic exon-skipping variants in CDC45	17
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis	17
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts	17
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia	17
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses	17
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome	17
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	16
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	16
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	16
What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study	16
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family	16
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias	16
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	16
Negotiating severity behind the scenes: prenatal testing in Germany	16
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case	16
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial	16
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	15
To sign or not to sign: Is this still the question?	15
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration	15
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	15
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	15
Assessing the digenic model in rare disorders using population sequencing data	15
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models	15
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	15
Consanguinity and willingness to perform premarital genetic screening in Sudan	15
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis	15
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals	15
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	14
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements	14
What is health and what do we mean when we say an intervention improves health?	14
Analysis of large-language model versus human performance for genetics questions	14
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer	14
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms	14
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	14
An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease	14
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	14
Assessing the contribution of genetic nurture to refractive error	14
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder	14
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	14
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	14
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	13
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	13
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	13
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance	13
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability	13
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients	13
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells	13
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	13
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	13
“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care	13
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	13
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	12
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	12
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	12
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX	12
Phenotypic compatibility and specificity in genomic variant classification	12
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection	12
Access alone does not define equity in reproductive genetics	12
Estimating the use of biological samples in Finnish biobanks and hospital collections	12
Negotiating ‘severity’ in plain sight	12
Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria	12
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	12
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation–contraction coupling disorders	12
Machine learning predicts distinct biotypes of amyotrophic lateral sclerosis	12
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome	11
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	11
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	11
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	11
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	11
Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes	11
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	11

Early illustrations of the importance of systematic phenotyping	11
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	11
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	11
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	11
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions	11
Developing genetic literacy in high school students with intellectual disability: Teachers’ experiences and perspectives	11
Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome	11
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres	11
Societal implications of expanded universal carrier screening: a scoping review	11
Loss of function of ADNP by an intragenic inversion	11
Microsatellite instability in gastrointestinal cancers	11
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	11
Global trends and themes in genetic counseling research	11
“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education	11
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11
Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	11
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions	10
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing	10
Clinical genomics testing: mainstreaming and globalising	10
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	10
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	10
Scientific refutation of ESHG statement on embryo selection	10
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders	10
Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review	10
Uncertainty, ethics, and progress in genomic medicine	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing	10
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	10
GLA insufficiency should not be called Fabry disease	10
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	10
The utility of population level genomic research	10
Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	10
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	10
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	10
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10
“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition	10
Genomic technologies identify milder presentations of Mendelian disease	10
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	10
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	9
Opportunities and challenges for paediatricians requesting funded genomic tests for children	9
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	9
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria	9
Genomic medicine in neonatal care: progress and challenges	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	9
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes	9
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	9
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	9
Rare-variant association analysis reveals known and new age-related hearing loss genes	9
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	9
Incorporating biobanking into the future of healthcare: exploring patient and healthcare worker perspectives at a Canadian tertiary academic hospital	9
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	9
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models	9
What’s new in EJHG in June 2024?	9
Consent for genomic sequencing: a conversation, not just a form	9
Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study	9
Host genetic basis of COVID-19: from methodologies to genes	9
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)	9
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders	9
Summer reading 2025 in EJHG	9
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	9
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	9
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles	9
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome	9
Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population	9
Autistic perspectives on the moral and ethical considerations of genetic testing for autism	8
Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing	8
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature	8
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective	8
Reevaluating ‘seriousness’ in genetic conditions: balancing clinical criteria and lived experiences	8
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases	8
A new impact factor for EJHG in 2022	8
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report	8
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications	8
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype	8
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	8
Surveillance of multiple congenital anomalies; searching for new associations	8
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations	8
Two for the heart: Dutch Pharmacogenetic Working Group prescribing guidance on statins and sulfonylureas to reduce cardiometabolic risk	8
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	8
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up	8
Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review	8
Research participants: critical friends, agents for change	8
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development	8
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism	8
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy	8
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)	8
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders	8