Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Margot Julia WyrwollE S van WalreeGeert HamerN RotteM M MotazackerH Meijers-HeijboerM AldersA MeißnerE KaminskyMarius WösteC KrallmannS KlieschT J HuntA T ClarkS SilberB StallmeyerC FriedrichA M M van PeltI B MathijssenFrank Tüttelmann

Published in: Human reproduction (Oxford, England) (2021)

This study was carried out within the frame of the German Research Foundation sponsored Clinical Research Unit 'Male Germ Cells: from Genes to Function' (DFG, CRU326), and supported by institutional funding of the Research Institute Amsterdam Reproduction and Development and funds from the LucaBella Foundation. The authors declare no conflict of interest.

Keyphrases

circulating tumor
genome wide
single molecule
copy number
nucleic acid
circulating tumor cells