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21. A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. (30th September 2019)

25. A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome. (22nd April 2022)

27. A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing. (18th December 2019)

28. A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family. (2nd April 2013)

29. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017)