European Journal of Human Genetics

Article	Citations
Hitting the heights with CiteScore	144
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	119
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	114
Metaplastic breast cancer and BRCA1: first strong evidence of a link	105
Ethics in editorship: lessons from a major retraction incident	82
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature	68
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	67
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	66
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	60
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	60
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	56
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models	53
Abstracts of the 8th International Workshop on the History of Human Genetics: The History of Eugenics, Evolution of Techniques in Human Genetics and Women in the History of Human Genetics	51
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	51
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome	50
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	46
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	43
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	42
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	40
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	39
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	39
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	38
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	37
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	33
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	32

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	32
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	31
Clinical implementation of polygenic risk scores	30
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries	30
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	29
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	28
BRCA1 and BRCA2 population screening in Latvia: feasibility, engagement, and early lessons from a pilot study	28
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis	28
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	28
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	27
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	27
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	26
Johann Gregor Mendel: the victory of statistics over human imagination	26
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients	26
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	26
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	25
Correction: A framework for evaluating long-term impact of newborn screening	25
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	25
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy	24
From clinical genetics to genomic-based public health screening programmes: duty-based ethics as a guide for responsible implementation	24
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	23
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families	23
Hereditary cancer: Germline testing practices across ERN GENTURIS member countries	23
Opportunistic genomic screening of healthy controls in an Australian biobank	23
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	23
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	23
Guidelines for genetic counselling supervision in Europe: a roadmap for ethical, effective, and reflective practice	23
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	23
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	22
Solving medical mysteries with genomics	22
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis	22
Importance of critical thinking to understand ChatGPT	22
‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain	22
To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence	22
Drawing lines: how the public defines “Serious” genetic conditions for reproductive testing	22
Editorial Déjà Vu: This time, it’s actually ‘what’s new in EJHG in May 2025?’	22
Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts	22
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	22
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population	21
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	21
Validation structures for sequence variants of uncertain significance in hereditary cancer	21
Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome	21
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?	21
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort	20
Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study	20
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant	20
Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants	20
Correction: Genetic discrimination still casts a large shadow in 2022	20
Advances in genomic medicine: from diagnosis to patient perspectives	19
When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project	19

Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	19
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR	19
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	19
Episignature analysis of moderate effects and mosaics	19
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	19
Childhood motor speech disorders: who to prioritise for genetic testing	19
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review	18
Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening	18
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	18
Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	18
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	18
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	18
Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1	17
Correction: “There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians	17
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references	17
Spring in EJHG	16
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses	16
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer	16
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals	16
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts	16
A second hotspot for pathogenic exon-skipping variants in CDC45	16
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	16
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case	16
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	16
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser 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
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	16
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements	15
Consanguinity and willingness to perform premarital genetic screening in Sudan	15
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia	15
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial	15
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms	15
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	15
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family	15
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	15
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	15
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	15
To sign or not to sign: Is this still the question?	15
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	15
Assessing the digenic model in rare disorders using population sequencing data	15
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder	15
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models	14
Negotiating severity behind the scenes: prenatal testing in Germany	14
Analysis of large-language model versus human performance for genetics questions	14
An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease	14
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration	14
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	14
Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report	14
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	14
What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study	14
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis	14
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	14
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	14
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection	13
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	13
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells	13
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	13
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	13
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	13
What is health and what do we mean when we say an intervention improves health?	13
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	13
The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review	13
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	13
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	13
Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria	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
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing	12
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	12
“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care	12
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres	12
Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes	12
Genomic newborn screening: data retention for research and clinical reuse	12
Access alone does not define equity in reproductive genetics	12
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation–contraction coupling disorders	12
Global trends and themes in genetic counseling research	12
“There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians	12
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	12
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	12

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance	12
Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics	12
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	12
Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11
Societal implications of expanded universal carrier screening: a scoping review	11
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	11
Developing genetic literacy in high school students with intellectual disability: Teachers’ experiences and perspectives	11
“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education	11
Machine learning predicts distinct biotypes of amyotrophic lateral sclerosis	11
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions	11
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	11
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	11
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	11
Estimating the use of biological samples in Finnish biobanks and hospital collections	11
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX	11
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	11
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia	11
Early illustrations of the importance of systematic phenotyping	11
Negotiating ‘severity’ in plain sight	11
Phenotypic compatibility and specificity in genomic variant classification	11
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	10
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions	10
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	10
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing	10
The utility of population level genomic research	10
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders	10
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	10
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	10
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients	10
Uncertainty, ethics, and progress in genomic medicine	10
Loss of function of ADNP by an intragenic inversion	10
Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	10
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome	10
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	10
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	10
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing	10
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	10
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	10
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing	10
Scientific refutation of ESHG statement on embryo selection	10
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases	10
Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review	10
“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition	10
Beyond the sequence	10
GLA insufficiency should not be called Fabry disease	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
Perspectives on phenotype in genetic testing for early-onset atrial fibrillation	9
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	9
Genomic technologies identify milder presentations of Mendelian disease	9
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models	9
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria	9
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders	9
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	9
Opportunities and challenges for paediatricians requesting funded genomic tests for children	9
Genomic medicine in neonatal care: progress and challenges	9
Summer reading 2025 in EJHG	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	9
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome	9
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	9
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	9
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	9
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	9
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	9
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles	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
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	9
Rare-variant association analysis reveals known and new age-related hearing loss genes	9
Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population	9
Missing … presumed well? Legal and ethical aspects of ‘missed cases’ in genomic newborn screening	8
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	8
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism	8
Systematic mapping of rare genetic disease studies using UK primary care electronic health records	8
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up	8
A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	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
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations	8
Autistic perspectives on the moral and ethical considerations of genetic testing for autism	8
Surveillance of multiple congenital anomalies; searching for new associations	8
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development	8
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications	8
Reevaluating ‘seriousness’ in genetic conditions: balancing clinical criteria and lived experiences	8
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement	8
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency	8
Research participants: critical friends, agents for change	8