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Bernard Aral

Affiliation : CHU Dijon Bourgogne

• 3Publications (affiliation in France)
• 89Total publications
• 2059Citations
• 27h-index

OpenAlex

Research profile

Bernard Aral has 3 indexed publications (2014–2025). Their work appears mainly in “Nature Genetics”, “European Journal of Human Genetics” and “Clinical Genetics”. Their most cited article, “Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption” (2025), has been cited 57 times. Their work is co-authored with at least 12 researchers, including institutions in Lebanon.

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Research areas

• Genomics and Rare Diseases
• Metabolism and Genetic Disorders
• Myeloproliferative Neoplasms: Diagnosis and Treatment
• Genomic variations and chromosomal abnormalities
• Genetics and Neurodevelopmental Disorders

Publications (3)

• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
  2025 · Nature Genetics · cited 57 times
• Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
  2014 · European Journal of Human Genetics · cited 53 times
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
  2014 · Clinical Genetics · cited 26 times

Publication venues

• Nature Genetics × 1
• European Journal of Human Genetics × 1
• Clinical Genetics × 1

Publications per year

• 20251
• 20142

Collaborations

Partner institutions : Inserm · Université de Bourgogne · Assistance Publique – Hôpitaux de Paris · Centre National de la Recherche Scientifique · Sorbonne Université

Co-authors’ countries : Lebanon

Co-authors

• Laurence Olivier Faivre
• Odile Boute
• Yannis Duffourd
• Nadège Gigot
• Pierre Vabres
• Jean‐Benoît Courcet
• Julien Thévenon
• Alice Goldenberg
• Christel Thauvin‐Robinet
• Jean‐Baptiste Rivière
• Amandine Santini
• Victoria Granier

Bibliographic data from OpenAlex (open database).