European Journal of Human Genetics

Article	Citations
Hitting the heights with CiteScore	106
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	102
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	90
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	84
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	84
Metaplastic breast cancer and BRCA1: first strong evidence of a link	79
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	75
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	64
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	61
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	55
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	48
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	44
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	44
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	42
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	41
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	40
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	39
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	38
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	37
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	36
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	35
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	34
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	33
Ethics in editorship: lessons from a major retraction incident	33
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	32

Correction: A framework for evaluating long-term impact of newborn screening	31
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	31
Johann Gregor Mendel: the victory of statistics over human imagination	31
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	31
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	29
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	28
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	28
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants	28
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	27
A polygenic risk score for multiple myeloma risk prediction	27
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	27
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	27
Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus	26
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	26
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	26
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	25
Fond farewell to clinical utility gene cards	24
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	24
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor	24
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	24
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	24
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	23
What’s new in genetics in June 2022?	23
Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	22
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis	22
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant	22
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review	22
Episignature analysis of moderate effects and mosaics	21
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability	21
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	20
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	20
Solving medical mysteries with genomics	20
Recommendations for whole genome sequencing in diagnostics for rare diseases	20
Demolishing the silo: towards team-based genomics in primary care	20
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	20
Correction: Genetic discrimination still casts a large shadow in 2022	19
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	19
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population	19
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort	19
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?	18
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	17
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	17
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study	17
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	17
Importance of critical thinking to understand ChatGPT	17
Comment on Informing relatives of their genetic risk: an examination of the Belgian context	17
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	17
Editorial Déjà Vu: This time, it’s actually ‘what’s new in EJHG in May 2025?’	17
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	17

Spring in EJHG	16
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	16
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses	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: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	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 rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts	15
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	15
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	15
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome	15
A second hotspot for pathogenic exon-skipping variants in CDC45	15
Assessing the contribution of genetic nurture to refractive error	14
Assessing the digenic model in rare disorders using population sequencing data	14
What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study	14
Consanguinity and willingness to perform premarital genetic screening in Sudan	14
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	14
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer	14
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint	14
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements	14
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration	14
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case	14
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias	14
Genetics of diaphragmatic hernia	14
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	14
Negotiating severity behind the scenes: prenatal testing in Germany	14
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia	14
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	14
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients	13
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	13
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	13
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience	13
What is health and what do we mean when we say an intervention improves health?	13
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	13
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	13
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	13
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	13
Analysis of large-language model versus human performance for genetics questions	13
New year, new issue	13
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	13
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	13
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models	13
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	13
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition	13
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance	13
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	12
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	12
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	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
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	12
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability	12
Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly	12
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	12
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	12
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	12
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	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
A tool for translating polygenic scores onto the absolute scale using summary statistics	11
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	11
Cascade screening for beta-thalassaemia in Pakistan: relatives’ experiences of a decision support intervention in routine practice	11
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	11
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	11
Societal implications of expanded universal carrier screening: a scoping review	11
Estimating the use of biological samples in Finnish biobanks and hospital collections	11
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	11
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials	11
Negotiating ‘severity’ in plain sight	11
Global trends and themes in genetic counseling research	11
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	11
Returning individual research results in international direct-to-participant genomic research: results from a 31-country study	10
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	10
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
Comment on Future trends in clinical genetic and genomic services by Borle et al.	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
Microsatellite instability in gastrointestinal cancers	10
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10

Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	10
Genomics elucidates both common and rare disease aetiology	10
Early illustrations of the importance of systematic phenotyping	10
Clinical genomics testing: mainstreaming and globalising	10
GLA insufficiency should not be called Fabry disease	10
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	10
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	10
Loss of function of ADNP by an intragenic inversion	10
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	10
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	10
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
Opportunities and challenges for paediatricians requesting funded genomic tests for children	9
The utility of population level genomic research	9
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles	9
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	9
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	9
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	9
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	9
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria	9
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	9
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	9
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	9
An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes	9
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
Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents	9
Scientific refutation of ESHG statement on embryo selection	9
Consent for genomic sequencing: a conversation, not just a form	9
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	9
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	9
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	9
Genomic technologies identify milder presentations of Mendelian disease	9
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	9
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	8
Incorporating biobanking into the future of healthcare: exploring patient and healthcare worker perspectives at a Canadian tertiary academic hospital	8
Predictive genetic testing for Motor neuron disease: time for a guideline?	8
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	8
Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first	8
Taking seriousness seriously in genomic health	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
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications	8
What’s new in EJHG in June 2024?	8
Genomic medicine in neonatal care: progress and challenges	8
The stepwise process of integrating a genetic counsellor into primary care	8
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	8
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome	8
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	8
Research participants: critical friends, agents for change	8
Reevaluating ‘seriousness’ in genetic conditions: balancing clinical criteria and lived experiences	8
A new impact factor for EJHG in 2022	8
KiT-GENIE, the French genetic biobank of kidney transplantation	8
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report	8
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes	8
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	8
Summer reading 2025 in EJHG	8
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models	8
Host genetic basis of COVID-19: from methodologies to genes	8
Rare-variant association analysis reveals known and new age-related hearing loss genes	8
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	8
Correction to: The stepwise process of integrating a genetic counsellor into primary care	8
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations	8
Autistic perspectives on the moral and ethical considerations of genetic testing for autism	8
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes	8
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	8
Australian human research ethics committee members’ confidence in reviewing genomic research applications	8
Polygenic risk modeling for prediction of epithelial ovarian cancer risk	7
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort	7
Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review	7
Invited Commentary on “My Research Results: a program to facilitate return of clinically actionable genomic research findings” by Willis et al.	7
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches	7
Expanding the phenotype associated with biallelic SLC20A2 variants	7
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta	7
Genomic testing for rare disease diagnosis—where are we now, and where should we be heading? The reflections of a behavioural scientist	7
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease	7
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study	7
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy	7
Genotyping arrays, population genetic studies and clinical implications	7
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023	7
Old and new challenges regarding comparable and viable data sharing in population-scale genomic research	7
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish	7
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss	7
The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations	7
Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review	7
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients	7
Why don’t we all use genomic testing?	7
Good quality practices for artificial intelligence in genetics	7
Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review	7
Tools used to appraise the quality of studies included in systematic reviews and meta-analyses in human genetics: a systematic review	7
A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria	7
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients	7