European Journal of Human Genetics

Papers
(The H4-Index of European Journal of Human Genetics is 29. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)
ArticleCitations
Hitting the heights with CiteScore106
Germline NPAT inactivating variants as cause of hereditary colorectal cancer102
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa90
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing84
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series84
Metaplastic breast cancer and BRCA1: first strong evidence of a link79
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening75
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening64
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service61
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 fr55
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome48
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci44
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review44
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children42
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective41
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells40
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns39
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua38
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations37
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community36
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters35
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder34
Ethics in editorship: lessons from a major retraction incident33
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India33
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)32
Exploring the ethics of genetic prioritisation for COVID-19 vaccines31
Johann Gregor Mendel: the victory of statistics over human imagination31
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families31
Correction: A framework for evaluating long-term impact of newborn screening31
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes29
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