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Mohammad Shboul

Affiliation : King Faisal Specialist Hospital & Research Centre · Agency for Science, Technology and Research

• 2Publications (affiliation in Singapore)
• 84Total publications
• 2053Citations
• 25h-index

ORCIDOpenAlex

Research profile

Mohammad Shboul has 2 indexed publications (2012–2023). Their work appears mainly in “Nature Communications” and “Nature Genetics”. Their most cited article, “Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma” (2012), has been cited 87 times. Their work is co-authored with at least 3 researchers, including institutions in Saudi Arabia, Tunisia, Egypt, Canada.

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Research areas

• Genomics and Rare Diseases
• Connective tissue disorders research
• Congenital limb and hand anomalies
• Developmental Biology and Gene Regulation
• Genetic and Kidney Cyst Diseases

Publications (2)

• Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
  2023 · Nature Communications · cited 43 times
• Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
  2012 · Nature Genetics · cited 87 times

Publication venues

• Nature Communications × 1
• Nature Genetics × 1

Publications per year

• 20231
• 20121

Collaborations

Partner institutions : Riyadh Armed Forces Hospital · King Saud University · Alfaisal University · King Abdulaziz Medical City · National Guard Health Affairs

Co-authors’ countries : Saudi Arabia · Tunisia · Egypt · Canada

Co-authors

• Bruno Reversade
• Sébastien Teissier
• Ons Mamaï

Bibliographic data from OpenAlex (open database).