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2. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017)

4. Cost‐effectiveness of noninvasive fetal RhD blood group genotyping in nonalloimmunized and alloimmunized pregnancies. Issue 5 (16th February 2022)

5. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. Issue 5 (13th January 2016)

8. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. Issue 12 (18th September 2015)

10. TMEM231 Gene Conversion Associated with Joubert and Meckel–Gruber Syndromes in the Same Family. Issue 11 (21st August 2016)