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3. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016)

4. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Issue 12 (22nd September 2022)

5. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015)

6. Experience of targeted Usher exome sequencing as a clinical test. Issue 1 (10th July 2013)

7. Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder. Issue 5 (14th March 2021)

8. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome. (December 2018)