European Journal of Human Genetics

Article	Citations
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	130
Hitting the heights with CiteScore	101
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	100
Clinical implementation of polygenic risk scores	97
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	92
Metaplastic breast cancer and BRCA1: first strong evidence of a link	67
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	65
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	65
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	55
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	52
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	48
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	47
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	46
Ethics in editorship: lessons from a major retraction incident	45
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	43
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	43
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	42
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	42
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	41
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	41
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	37
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	37
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	36
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	35
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	34

Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	33
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	32
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	31
Correction: A framework for evaluating long-term impact of newborn screening	31
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	31
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants	30
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	30
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	29
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	27
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	27
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	26
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	26
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor	25
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	25
Johann Gregor Mendel: the victory of statistics over human imagination	25
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy	25
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	25
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families	24
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	23
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis	23
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	23
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	23
Guidelines for genetic counselling supervision in Europe: a roadmap for ethical, effective, and reflective practice	23
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	22
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant	22
What’s new in genetics in June 2022?	22
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	22
Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	22
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis	21
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	21
Solving medical mysteries with genomics	21
Editorial Déjà Vu: This time, it’s actually ‘what’s new in EJHG in May 2025?’	21
Importance of critical thinking to understand ChatGPT	20
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	20
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	20
Demolishing the silo: towards team-based genomics in primary care	20
Correction: Genetic discrimination still casts a large shadow in 2022	20
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	19
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	19
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	19
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population	18
Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	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
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?	18
Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome	18
Episignature analysis of moderate effects and mosaics	18
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review	18
Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants	17

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability	17
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome	17
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	17
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	17
Recommendations for whole genome sequencing in diagnostics for rare diseases	17
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	17
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	17
Spring in EJHG	17
Comment on Informing relatives of their genetic risk: an examination of the Belgian context	17
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts	17
A second hotspot for pathogenic exon-skipping variants in CDC45	16
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	16
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms	16
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder	16
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	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	15
Consanguinity and willingness to perform premarital genetic screening in Sudan	15
To sign or not to sign: Is this still the question?	15
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	15
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias	15
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial	15
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements	15
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	15
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case	15
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis	15
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience	15
Assessing the digenic model in rare disorders using population sequencing data	15
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia	15
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	15
Analysis of large-language model versus human performance for genetics questions	15
Assessing the contribution of genetic nurture to refractive error	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
What is health and what do we mean when we say an intervention improves health?	14
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration	14
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	14
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
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	14
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	14
What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study	14
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance	14
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition	14
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	13
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	13
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	13
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients	13
“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care	13
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	13
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	13
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability	13
Negotiating ‘severity’ in plain sight	12
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	12
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	12
Societal implications of expanded universal carrier screening: a scoping review	12
Estimating the use of biological samples in Finnish biobanks and hospital collections	12
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX	12
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	12
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	12
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation–contraction coupling disorders	12
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	12
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	12
Phenotypic compatibility and specificity in genomic variant classification	12
Global trends and themes in genetic counseling research	12
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	12
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	12
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	12
Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	12
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	12
Machine learning predicts distinct biotypes of amyotrophic lateral sclerosis	12
Developing genetic literacy in high school students with intellectual disability: Teachers’ experiences and perspectives	12
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres	12
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	12
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	11
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	11
Uncertainty, ethics, and progress in genomic medicine	11
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	11
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11

Early illustrations of the importance of systematic phenotyping	11
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions	11
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	11
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing	11
Returning individual research results in international direct-to-participant genomic research: results from a 31-country study	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
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	11
Comment on Future trends in clinical genetic and genomic services by Borle et al.	11
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	11
GLA insufficiency should not be called Fabry disease	11
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	11
A tool for translating polygenic scores onto the absolute scale using summary statistics	11
Microsatellite instability in gastrointestinal cancers	11
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	10
The utility of population level genomic research	10
Clinical genomics testing: mainstreaming and globalising	10
Genomic technologies identify milder presentations of Mendelian disease	10
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	10
Loss of function of ADNP by an intragenic inversion	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
Scientific refutation of ESHG statement on embryo selection	10
An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes	10
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	10
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	10
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	10
Incorporating biobanking into the future of healthcare: exploring patient and healthcare worker perspectives at a Canadian tertiary academic hospital	10
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	9
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	9
Consent for genomic sequencing: a conversation, not just a form	9
Genomic medicine in neonatal care: progress and challenges	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Rare-variant association analysis reveals known and new age-related hearing loss genes	9
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	9
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	9
The stepwise process of integrating a genetic counsellor into primary care	9
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria	9
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models	9
Host genetic basis of COVID-19: from methodologies to genes	9
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	9
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	9
Correction to: The stepwise process of integrating a genetic counsellor into primary care	9
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes	9
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	9
Summer reading 2025 in EJHG	9
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	9
Predictive genetic testing for Motor neuron disease: time for a guideline?	9
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome	9
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	9
Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents	9
What’s new in EJHG in June 2024?	9
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes	9
Opportunities and challenges for paediatricians requesting funded genomic tests for children	9
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	9
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles	9
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	9
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases	8
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications	8
Polygenic risk modeling for prediction of epithelial ovarian cancer risk	8
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)	8
A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria	8
Research participants: critical friends, agents for change	8
Autistic perspectives on the moral and ethical considerations of genetic testing for autism	8
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers	8
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy	8
Surveillance of multiple congenital anomalies; searching for new associations	8
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report	8
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations	8
A new impact factor for EJHG in 2022	8
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism	8
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development	8
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium	8
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease	8
Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review	8
KiT-GENIE, the French genetic biobank of kidney transplantation	8
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective	8
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency	8
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature	8
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	8
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss	8
Reevaluating ‘seriousness’ in genetic conditions: balancing clinical criteria and lived experiences	8
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss	8
ADNP in reverse gear	8
Molecular explanations for variability of clinical phenotypes	8
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	8
Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first	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
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement	8