European journal of human genetics : EJHG

01 19 October 2026

DOI 10.1038/s41431-026-02259-8

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis

Open DOI

Sophie Rondeau, Céline Huber, Jennifer Kerkhof et al.

02 16 October 2026

DOI 10.1038/s41431-026-02258-9

Maternal perspectives on sharing newborn genomic data

Open DOI

Bernarda Prosenc, Mojca Cizek Sajko, Gorazd Kavsek et al.

Sharing clinical and genomic data is essential for accurate variant interpretation, the advancement of genomic research, and supporting couples planning to conceive. This cross-sectional study examined attitudes toward newborn genomic da...

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03 16 October 2026

DOI 10.1038/s41431-026-02255-y

Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications

Open DOI

Reda Hessi, Ethan Bendayan, Lorena Alexandra Mija et al.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer predisposition syndrome in which uterine leiomyomas (ULs) are common, morbid, and often precede renal cancer diagnosis. We synthetized evidence on the clinical pres...

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04 16 October 2026

DOI 10.1038/s41431-026-02243-2

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia

Open DOI

Carolina Jaramillo Oquendo, Janice Coles, Lee Baker et al.

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ~1:7500 individuals characterised by recurrent chronic respiratory infections, bronchiectasis, laterality defects, and infertility. While at least 60 PCD-causing genes...

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05 12 October 2026

DOI 10.1038/s41431-026-02256-x

Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization

Open DOI

Lucile Riera-Navarro, Eléonore Birgy, Samira Ait-El-Mkadem Saadi et al.

Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients rema...

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06 9 October 2026

DOI 10.1038/s41431-026-02248-x

Characterisation of a Portuguese origin founder missense variant in MSH6

Open DOI

Kenzie Melvill, Leora Witkowski, Céline Domecq et al.

07 8 October 2026

DOI 10.1038/s41431-026-02246-z

Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study

Open DOI

Maari Kytöharju, Jukka S. Moilanen, Mika H. Martikainen

Amyotrophic lateral sclerosis (ALS) is a common neurodegenerative disease. Its aetiology is complex, but a subset is caused by single-gene pathogenic variants (monogenic ALS). The most common ALS-associated genes are SOD1 and C9orf72 . W...

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08 8 October 2026

DOI 10.1038/s41431-026-02253-0

Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment

Open DOI

Elena Sophia Doll, Julia Mahal, Karla Alex et al.

Parental perspectives are central in ongoing debates about genomic newborn screening (gNBS). This study examined (expecting) parents’ interest in gNBS in Germany. We hypothesized that condition characteristics (actionability, genetic pen...

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09 6 October 2026

DOI 10.1038/s41431-026-02225-4

Health inequalities in precision medicine: A systematic review

Open DOI

Zeinab M. Hassanein, Manpreet Bains, Rupinder Kaur Bajwa et al.

Precision medicine aims to revolutionise healthcare by providing personalised treatments based on individual genetic variations. A systematic review was conducted to explore ethnic inequalities in precision medicine, focusing on represen...

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10 6 October 2026

DOI 10.1038/s41431-026-02227-2

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy

Open DOI

Athanasios Bakalakos, Rebeca Lorca, Alexandros Protonotarios et al.

Genetic variant interpretation in hypertrophic cardiomyopathy (HCM) evolves as population reference datasets expand, gene–disease validity assessments examine new candidate genes and additional functional and segregation evidence accumul...

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