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2. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021)

3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

5. Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Issue 6 (11th May 2021)

6. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Issue 10 (15th September 2021)

7. El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Issue 5 (12th April 2022)

8. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Issue 7 (24th March 2022)

9. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Issue 3 (23rd November 2021)

10. Risk of sudden cardiac death in EXOSC5‐related disease. Issue 8 (4th June 2021)