European Journal of Human Genetics

Article	Citations
Hitting the heights with CiteScore	131
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	104
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	102
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	93
Clinical implementation of polygenic risk scores	78
Metaplastic breast cancer and BRCA1: first strong evidence of a link	62
Ethics in editorship: lessons from a major retraction incident	59
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature	57
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	54
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	54
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	49
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	49
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	49
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome	47
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	43
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models	41
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	39
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	39
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries	36
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	36
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	36
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	33
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	32
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	31
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	31

Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	30
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	30
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	30
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	30
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	29
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	28
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	26
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	26
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	26
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis	26
Opportunistic genomic screening of healthy controls in an Australian biobank	25
Johann Gregor Mendel: the victory of statistics over human imagination	24
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy	24
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	24
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families	24
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients	23
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	23
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	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	22
Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts	22
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	22
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	22
Correction: A framework for evaluating long-term impact of newborn screening	22
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	22
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis	21
From clinical genetics to genomic-based public health screening programmes: duty-based ethics as a guide for responsible implementation	21
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	21
What’s new in genetics in June 2022?	21
Solving medical mysteries with genomics	21
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	21
Advances in genomic medicine: from diagnosis to patient perspectives	20
Editorial Déjà Vu: This time, it’s actually ‘what’s new in EJHG in May 2025?’	20
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	20
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant	19
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population	19
Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome	19
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	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
Correction: Genetic discrimination still casts a large shadow in 2022	19
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	19
Validation structures for sequence variants of uncertain significance in hereditary cancer	19
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1	18
‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain	18
Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants	18
Importance of critical thinking to understand ChatGPT	18
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	18
Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	18

Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study	18
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	18
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review	18
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	18
When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project	18
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort	18
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	18
Episignature analysis of moderate effects and mosaics	17
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references	17
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR	17
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	17
Childhood motor speech disorders: who to prioritise for genetic testing	17
Spring in EJHG	17
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome	16
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	16
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case	16
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses	16
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias	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
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	16
Negotiating severity behind the scenes: prenatal testing in Germany	15
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	15
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration	15
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	15
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer	15
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial	15
To sign or not to sign: Is this still the question?	15
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals	15
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	15
Consanguinity and willingness to perform premarital genetic screening in Sudan	15
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family	15
What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study	15
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	15
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis	15
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	14
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms	14
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia	14
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements	14
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder	14
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	14
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	14
Assessing the digenic model in rare disorders using population sequencing data	14
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models	14
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	14
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	14
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	13
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability	13
Analysis of large-language model versus human performance for genetics questions	13
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	13
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	13
What is health and what do we mean when we say an intervention improves health?	13
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	13
An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease	13
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	12
Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria	12
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection	12
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	12
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients	12
Access alone does not define equity in reproductive genetics	12
“There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians	12
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX	12
Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes	12
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	12
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	12
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	12
“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care	12
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation–contraction coupling disorders	12
The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review	12
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	12
Negotiating ‘severity’ in plain sight	12
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	12
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance	12
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	12
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells	12
Genomic newborn screening: data retention for research and clinical reuse	12
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	12
Phenotypic compatibility and specificity in genomic variant classification	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

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	11
Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome	11
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	11
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11
“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education	11
Early illustrations of the importance of systematic phenotyping	11
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	11
Estimating the use of biological samples in Finnish biobanks and hospital collections	11
Global trends and themes in genetic counseling research	11
Societal implications of expanded universal carrier screening: a scoping review	11
Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	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
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
Genomic technologies identify milder presentations of Mendelian disease	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing	10
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders	10
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	10
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	10
Clinical genomics testing: mainstreaming and globalising	10
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome	10
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	10
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing	10
“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition	10
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
The utility of population level genomic research	10
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	10
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	10
Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review	10
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10
Loss of function of ADNP by an intragenic inversion	10
GLA insufficiency should not be called Fabry disease	10
Microsatellite instability in gastrointestinal cancers	10
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	10
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions	10
Scientific refutation of ESHG statement on embryo selection	10
Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review	10
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	10
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	10
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	10
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	10
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	10
Uncertainty, ethics, and progress in genomic medicine	10
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	10
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)	9
Summer reading 2025 in EJHG	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
Incorporating biobanking into the future of healthcare: exploring patient and healthcare worker perspectives at a Canadian tertiary academic hospital	9
Genomic medicine in neonatal care: progress and challenges	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population	9
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	9
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	9
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models	9
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders	9
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	9
Consent for genomic sequencing: a conversation, not just a form	9
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	9
Opportunities and challenges for paediatricians requesting funded genomic tests for children	9
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	9
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles	9
Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study	9
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	9
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy	8
What’s new in EJHG in June 2024?	8
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	8
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)	8
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases	8
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype	8
Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing	8
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers	8
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement	8
A new impact factor for EJHG in 2022	8
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes	8
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	8
Rare-variant association analysis reveals known and new age-related hearing loss genes	8
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development	8
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	8
Autistic perspectives on the moral and ethical considerations of genetic testing for autism	8
KiT-GENIE, the French genetic biobank of kidney transplantation	8
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	8
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	8
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome	8
Two for the heart: Dutch Pharmacogenetic Working Group prescribing guidance on statins and sulfonylureas to reduce cardiometabolic risk	8
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders	8
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report	8
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss	8
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective	8
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort	7