European Journal of Human Genetics

Article	Citations
Hitting the heights with CiteScore	99
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	96
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	87
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	78
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	77
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	72
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	71
Metaplastic breast cancer and BRCA1: first strong evidence of a link	70
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	67
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	65
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	58
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	56
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	52
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	48
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	47
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	43
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	41
Ethics in editorship: lessons from a major retraction incident	40
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	39
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	37
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	37
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	37
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	35
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	34
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	33

Johann Gregor Mendel: the victory of statistics over human imagination	32
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	32
Correction: A framework for evaluating long-term impact of newborn screening	31
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	30
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	30
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland	29
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	29
Mapping pleiotropic loci using a fast-sequential testing algorithm	28
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	28
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	28
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	27
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	27
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	27
A polygenic risk score for multiple myeloma risk prediction	26
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours	26
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	25
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	25
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	24
Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus	24
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	24
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants	23
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor	23
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients	23
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	23
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	23
Fond farewell to clinical utility gene cards	23
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus	22
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy	22
Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	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
What’s new in genetics in June 2022?	22
Solving medical mysteries with genomics	22
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	21
Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most?	21
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia	20
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments	20
Demolishing the silo: towards team-based genomics in primary care	20
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study	20
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
Correction: Genetic discrimination still casts a large shadow in 2022	19
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	18
Recommendations for whole genome sequencing in diagnostics for rare diseases	18
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?	18
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder	18
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis	18
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability	17
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact	17
Episignature analysis of moderate effects and mosaics	17

Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan	17
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice	16
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories	16
Importance of critical thinking to understand ChatGPT	16
Spring in EJHG	16
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms	16
Comment on Informing relatives of their genetic risk: an examination of the Belgian context	16
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	16
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome	15
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	15
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses	15
A second hotspot for pathogenic exon-skipping variants in CDC45	15
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans	15
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder	15
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases	15
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts	15
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint	15
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells	15
Consanguinity and willingness to perform premarital genetic screening in Sudan	15
Assessing the contribution of genetic nurture to refractive error	14
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer	14
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone)	14
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males	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
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	14
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies	14
Genetics of diaphragmatic hernia	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
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models	14
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene	13
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients	13
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	13
Analysis of large-language model versus human performance for genetics questions	13
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations	13
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition	13
New year, new issue	13
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation	13
Negotiating severity behind the scenes: prenatal testing in Germany	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
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot	13
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG	13
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias	13
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care	13
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients	13
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning	12
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum	12
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature	12
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning	12
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy	12
Allele frequency differentiation at height-associated SNPs among continental human populations	12
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update	12
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres	12
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions	12
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review	12
The Spanish Polygenic Score reference distribution: a resource for personalized medicine	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
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome	12
Global trends and themes in genetic counseling research	11
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare	11
Cascade screening for beta-thalassaemia in Pakistan: relatives’ experiences of a decision support intervention in routine practice	11
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX	11
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia	11
Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed	11
Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives	11
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials	11
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint	11
Societal implications of expanded universal carrier screening: a scoping review	11
A tool for translating polygenic scores onto the absolute scale using summary statistics	11
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	11
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	11
Phenotypic compatibility and specificity in genomic variant classification	11
Negotiating ‘severity’ in plain sight	11
Loss of function of ADNP by an intragenic inversion	10
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
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	10

Comment on Future trends in clinical genetic and genomic services by Borle et al.	10
Clinical genomics testing: mainstreaming and globalising	10
Early illustrations of the importance of systematic phenotyping	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
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	10
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	10
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	10
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	10
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	10
Genomics elucidates both common and rare disease aetiology	10
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	10
An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes	9
Host genetic basis of COVID-19: from methodologies to genes	9
The utility of population level genomic research	9
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	9
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	9
Scientific refutation of ESHG statement on embryo selection	9
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis	9
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	9
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	9
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	9
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	9
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	9
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features	9
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	9
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	9
GLA insufficiency should not be called Fabry disease	9
Microsatellite instability in gastrointestinal cancers	9
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	9
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	8
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss	8
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	8
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	8
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	8
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	8
Genomic technologies identify milder presentations of Mendelian disease	8
Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents	8
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics	8
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection	8
What’s new in EJHG in June 2024?	8
Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first	8
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes	8
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria	8
Predictive genetic testing for Motor neuron disease: time for a guideline?	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
Genomic medicine in neonatal care: progress and challenges	8
Correction to: The stepwise process of integrating a genetic counsellor into primary care	8
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications	8
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes	8
Reevaluating ‘seriousness’ in genetic conditions: balancing clinical criteria and lived experiences	8
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment	8
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report	8
Opportunities and challenges for paediatricians requesting funded genomic tests for children	8
Australian human research ethics committee members’ confidence in reviewing genomic research applications	8
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021	8
Rare-variant association analysis reveals known and new age-related hearing loss genes	8
Consent for genomic sequencing: a conversation, not just a form	8
The stepwise process of integrating a genetic counsellor into primary care	8
KiT-GENIE, the French genetic biobank of kidney transplantation	8
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer	8
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta	7
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder	7
Taking seriousness seriously in genomic health	7
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)	7
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium	7
Beyond severity: utility as a criterion for setting the scope of RGCS	7
Tools used to appraise the quality of studies included in systematic reviews and meta-analyses in human genetics: a systematic review	7
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish	7
Good quality practices for artificial intelligence in genetics	7
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss	7
Genomic testing for rare disease diagnosis—where are we now, and where should we be heading? The reflections of a behavioural scientist	7
Old and new challenges regarding comparable and viable data sharing in population-scale genomic research	7
Two for the heart: Dutch Pharmacogenetic Working Group prescribing guidance on statins and sulfonylureas to reduce cardiometabolic risk	7
Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review	7
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI	7
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases	7
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023	7
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients	7
Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review	7
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients	7
Somatic genetic variation in healthy tissue and non-cancer diseases	7
The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations	7
A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria	7
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism	7
A new impact factor for EJHG in 2022	7
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations	7
ADNP in reverse gear	7
Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study	7
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease	7
Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review	7
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort	7