Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

Overview of attention for article published in The Application of Clinical Genetics, November 2018

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Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion

Article in Intractable & Rare Diseases Research (August 2023)

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

Article in Current Issues in Molecular Biology (February 2023)

Chapter 6 The emergence of genotypic divergence and future precision medicine applications

Book chapter (January 2023)