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A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

Annelore Van Der KelenÖzlem OkutmanElodie JaveyMünevver SerdarogullariCharlotte JanssensManjusha S GhoshBart J H DequekerFlorence PeroldClaire KastnerEmmanuelle KiefferIngrid SegersAlexander GheldofFrederik J HesKaren D SermonWillem VerpoestStéphane Viville
Published in: Human reproduction update (2022)
We have comprehensively reviewed the existing research on the genetics of female infertility and DSD, which will enable the development of diagnostic panels using validated genes. Whole genome analysis is shifting from predominantly research to clinical application, increasing its diagnostic potential. These new diagnostic possibilities will not only decrease the number of idiopathic cases but will also render genetic counselling more effective for infertile patients and their families.
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