European Journal of Human Genetics

Article	Citations
GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks	85
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates	73
Microsatellite instability in gastrointestinal cancers	67
What’s new in EJHG in April	62
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease	61
Remembering GertJan van Ommen	61
Clinical genomics testing: mainstreaming and globalising	61
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity	56
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	54
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	51
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals	50
Is there a “pandemic effect” on individuals’ willingness to take genetic tests?	48
Identifying challenges in neurofibromatosis: a modified Delphi procedure	47
Estimation of the number of inherited prion disease mutation carriers in the UK	46
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members	44
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	40
Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison	39
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability	35
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	34
Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes	34
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.	33
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism	32
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	31
Loss of function of ADNP by an intragenic inversion	31
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders	31

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	30
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	28
Guidelines, guidelines everywhere—and still I’m not sure what to do	28
Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations	28
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience	25
Early illustrations of the importance of systematic phenotyping	25
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey	24
Unveiling the hidden: revisiting the potential of old genetic data for rare disease research	24
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	23
Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives	23
Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome	22
Genomics elucidates both common and rare disease aetiology	21
Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals	21
Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing	21
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing	21
Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making	20
A novel genomic mutation in ADNP leading to intellectual disability	20
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss	20
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54	20
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?	20
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes	20
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct	19
Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study	19
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	18
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement	18
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C	18
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	18
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile	17
Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa	17
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening	17
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	16
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India	16
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia	16
New year, new genes	16
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women	16
Hitting the heights with CiteScore	16
Evaluating the monogenic contribution and genotype–phenotype correlation in patients with isolated thoracic aortic aneurysm	16
Dopa-responsive dystonia in Bulgarian patients: report of three cases	16
Metaplastic breast cancer and BRCA1: first strong evidence of a link	16
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability	16
Comment on Future trends in clinical genetic and genomic services by Borle et al.	16
The question of WGS’s clinical utility remains unanswered	15
Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting	15
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	15
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders	15
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome	15
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1	15
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals	15
A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website	15
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders	15

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	14
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project	14
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum	14
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome	14
Speech and language deficits are central to SETBP1 haploinsufficiency disorder	14
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene	14
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	14
Should the scope of NIPT be limited by a ‘threshold of seriousness’?	14
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	14
Ambivalence and regret in genome sequencing	14
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome	14
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients	14
Research priorities in psychiatric genetic counselling: how to talk to children and adolescents about genetics and psychiatric disorders	14
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	13
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia	13
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	13
Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research	13
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications	13
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials	13
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation	13
Improving diagnosis of mitochondrial fatty-acid oxidation disorders	13
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants	13
Returning individual research results in international direct-to-participant genomic research: results from a 31-country study	12
CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum	12
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations	12
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes	12
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor	12
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection	12
Use of Estonian Biobank data and participant recall to improve Wilson’s disease management	12
Deciphering the genetic structure of the Quebec founder population using genealogies	12
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands	12
Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives	12
Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)	12
A comparison of genotyping arrays	12
Exome sequencing—one test to rule them all?	12
‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland	12
The human genome harbours widespread exclusive yin yang haplotypes	11
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	11
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	11
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays	11
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge	11
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci	11
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	11
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data	11
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia	11
Y chromosome sequencing data suggest dual paths of haplogroup N1a1 into Finland	10
Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)	10
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia	10
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia	10
NIPT and the concerns regarding ‘routinisation’	10
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	10
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members	10
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	10
Solving the unsolved rare diseases in Europe	10
Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families	10
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies	10
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery	10
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	10
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency	9
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	9
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing	9
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	9
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32	9
Correction: The 2019 and 2021 International workshops on Alport syndrome	9
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis	9
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment	9
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	9
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine	9
Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’	9
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework	9
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases	9
Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome	9
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	9
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome	9
GLA insufficiency should not be called Fabry disease	9
Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study	9
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing	9
Defining the complex needs of families with rare diseases—the example of telomere biology disorders	9
Correction: 2021 at European Journal of Human Genetics: the year in review	9
Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area	9

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases	9
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes	9
Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia	9
Australian human research ethics committee members’ confidence in reviewing genomic research applications	8
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals	8
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?	8
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals	8
Welcome to 2025 from EJHG	8
The utility of population level genomic research	8
Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study	8
Ambivalence in genomic healthcare provision, cure or symptom?	8
Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris	8
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	8
Somatic and germinal mosaicism in a Han Chinese family with laminopathies	8
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’	8
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility	8
Johann Gregor Mendel: the victory of statistics over human imagination	8
Rare-variant association analysis reveals known and new age-related hearing loss genes	8
Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions	8
Further delineation of the SCAF4-associated neurodevelopmental disorder	8
Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography	8
Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant	8
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome	8
Emerging cancer risks in BRCA2 pathogenic germline variant carriers	8
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants	8
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes	8
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)	8
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters	8
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature	8
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report	8
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	8
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant	8
Epigenomic and phenotypic characterization of DEGCAGS syndrome	8
Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation	8
Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population	8
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective	8
Exploiting family history in aggregation unit-based genetic association tests	7
A framework for the evaluation and reporting of incidental findings in clinical genomic testing	7
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant	7
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren	7
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis	7
April, again	7
The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis	7
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours	7
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN)	7
Summer reading in EJHG	7
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review	7
Scientific refutation of ESHG statement on embryo selection	7
Cascade health service use in family members following genetic testing in children: a scoping literature review	7
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies	7
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	7
Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.	7
Out now in May’s EJHG	7
Parent clinical trial priorities for fragile X syndrome: a best–worst scaling	7
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	7
Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review	7
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group	7
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis	7
Gene selection by incorporating genetic networks into case-control association studies	7
A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy	7
COVID-19: a challenge and an opportunity	7
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report	7
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2	7
Crosstalk between BH4, pain, and dystonia	7
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum	7
Stakeholder views on opportunistic genomic screening in the Netherlands: a qualitative study	7
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele	7
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway	6
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	6
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield	6
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia	6
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference	6
Fond farewell to clinical utility gene cards	6
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	6
Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON	6
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum	6
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland	6
Genomic medicine in neonatal care: progress and challenges	6
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications	6
Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer	6
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?	6
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population	6
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency	6
New insights into the molecular basis of spinal neurofibromatosis type 1	6
Artificial intelligence in clinical genetics	6
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions	6
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history	6
The reuse of genetic information in research and informed consent	6
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract	6
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference	6
Polygenic risk modeling with latent trait-related genetic components	6
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy	6
Mapping pleiotropic loci using a fast-sequential testing algorithm	6
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry	6
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders	6