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5. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. Issue 10 (11th March 2020)

7. Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles. Issue 8 (11th December 2012)

8. Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. (December 2018)

10. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019)