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
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India33
Ethics in editorship: lessons from a major retraction incident33
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)32
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
Exploring the ethics of genetic prioritisation for COVID-19 vaccines31
Johann Gregor Mendel: the victory of statistics over human imagination31
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes29
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