European Journal of Human Genetics

Article	Citations
What’s new in EJHG in April	93
Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36	87
Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants	84
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	82
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	71
Clinical genomics testing: mainstreaming and globalising	67
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature	66
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals	65
GLA insufficiency should not be called Fabry disease	64
Speech and language deficits are central to SETBP1 haploinsufficiency disorder	61
Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison	61
Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations	57
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	51
Guidelines, guidelines everywhere—and still I’m not sure what to do	51
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	50
Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making	46
Genomics elucidates both common and rare disease aetiology	46
New year, new genes	44
Hitting the heights with CiteScore	42
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	38
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	36
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	36
Ambivalence and regret in genome sequencing	36
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	36
Welcome to 2025 from EJHG	34

Towards a patient-centred classification of genetic disease severity	32
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	31
Exome sequencing—one test to rule them all?	30
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	30
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’	29
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases	29
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience	28
Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study	28
A novel genomic mutation in ADNP leading to intellectual disability	27
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	27
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54	26
The human genome harbours widespread exclusive yin yang haplotypes	26
Dopa-responsive dystonia in Bulgarian patients: report of three cases	25
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders	25
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing	25
Metaplastic breast cancer and BRCA1: first strong evidence of a link	25
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine	24
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	23
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	23
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia	23
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	23
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing	22
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	22
Comment on: “Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype” by Ruiz de Sabando et al.	22
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	22
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders	21
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	21
Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa	21
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome	21
Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome	21
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome	21
Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation	20
Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area	20
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	20
Unveiling the hidden: revisiting the potential of old genetic data for rare disease research	20
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	20
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile	19
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	19
Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)	19
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications	19
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability	19
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members	19
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	19
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia	19
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	18
Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives	18
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C	18
Should the scope of NIPT be limited by a ‘threshold of seriousness’?	18
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals	18
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies	17

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data	17
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism	17
NIPT and the concerns regarding ‘routinisation’	17
Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study	17
A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website	16
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery	16
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes	16
Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals	16
Microsatellite instability in gastrointestinal cancers	16
Returning individual research results in international direct-to-participant genomic research: results from a 31-country study	16
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor	16
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	16
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation	16
Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting	15
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1	15
GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks	14
Early illustrations of the importance of systematic phenotyping	14
Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing	14
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	14
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity	14
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands	14
Research priorities in psychiatric genetic counselling: how to talk to children and adolescents about genetics and psychiatric disorders	14
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework	13
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	13
Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’	13
Loss of function of ADNP by an intragenic inversion	13
Deciphering the genetic structure of the Quebec founder population using genealogies	13
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes	13
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	13
Correction: The 2019 and 2021 International workshops on Alport syndrome	13
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?	13
Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia	13
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	13
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders	13
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection	13
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	13
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	13
Is there a “pandemic effect” on individuals’ willingness to take genetic tests?	13
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	13
Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study	12
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci	12
Epigenomic and phenotypic characterization of DEGCAGS syndrome	12
Use of Estonian Biobank data and participant recall to improve Wilson’s disease management	12
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases	12
Identifying challenges in neurofibromatosis: a modified Delphi procedure	12
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	12
Defining the complex needs of families with rare diseases—the example of telomere biology disorders	12
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	12
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	12
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening	12
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	12
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	12
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	12
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	12
Further delineation of the SCAF4-associated neurodevelopmental disorder	12
Y chromosome sequencing data suggest dual paths of haplogroup N1a1 into Finland	12
Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)	12
Comment on Future trends in clinical genetic and genomic services by Borle et al.	11
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	11
CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum	11
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability	11
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum	11
Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families	11
‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland	11
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia	11
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	11
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency	11
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia	11
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome	11
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	11
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals	11
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients	11
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials	11
Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives	11
Correction: 2021 at European Journal of Human Genetics: the year in review	11
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing	10
Evaluating the monogenic contribution and genotype–phenotype correlation in patients with isolated thoracic aortic aneurysm	10
Exploring the potential usefulness of the GCOS-16 for expanded applications	10
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment	10
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes	10

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants	10
Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris	10
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	10
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays	10
Estimation of the number of inherited prion disease mutation carriers in the UK	10
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	10
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome	10
Solving the unsolved rare diseases in Europe	10
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	9
Artificial intelligence in clinical genetics	9
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters	9
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	9
A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy	9
A comparison of genotyping arrays	9
Consent for genomic sequencing: a conversation, not just a form	9
Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research	9
Out now in May’s EJHG	9
April, again	9
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis	9
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease	9
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	9
The utility of population level genomic research	9
A polygenic risk score for multiple myeloma risk prediction	9
Crosstalk between BH4, pain, and dystonia	9
Summer reading in EJHG	9
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review	9
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model	9
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	9
The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe	9
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	9
Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations	9
Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	8
Genomic technologies identify milder presentations of Mendelian disease	8
New insights into the molecular basis of spinal neurofibromatosis type 1	8
Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting	8
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	8
Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions	8
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis	8
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants	8
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort	8
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	8
Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review	8
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program	8
Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography	8
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	8
Correction: A framework for evaluating long-term impact of newborn screening	8
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	8
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	8
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study	8
Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.	8
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2	8
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN)	8
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference	8
Response to correspondence regarding “Analysis of large-language model versus human performance for genetics questions”	8
The reuse of genetic information in research and informed consent	8
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)	8
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%	8
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report	8
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss	8
Ambivalence in genomic healthcare provision, cure or symptom?	8
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature	8
Looking back at 2024 in the European Journal of Human Genetics	8
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference	8
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	7
Novel variants in the SOX11 gene: clinical description of seven new patients	7
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing	7
Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer	7
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract	7
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	7
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy	7
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer	7
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	7
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway	7
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis	7
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry	7
Speech and language classification in the human phenotype ontology	7
Genomic testing in Low- and Middle-Income Countries (LMIC)	7
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa	7
Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening	7
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	7
Gene selection by incorporating genetic networks into case-control association studies	7
Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections	7
A framework for the evaluation and reporting of incidental findings in clinical genomic testing	7
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	7
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	7
The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis	7
Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda	7
Overcoming barriers to equitable genomic healthcare	7
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review	7
Equity implications of patient-initiated recontact and follow-up in clinical genetics	7
Johann Gregor Mendel: the victory of statistics over human imagination	7
Lynch syndrome: influence of additional susceptibility variants on cancer risk	7
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency	7
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023	7
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective	7