Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.

Dicke AK, Albrethsen J, Hoare BL, Wyrwoll MJ, Busch AS, Fietz D, Pilatz A, Bühlmann C, Juul A, Kliesch S, Gromoll J, Bathgate RAD, Tüttelmann F, Stallmeyer B
Human Reproduction, 19. Mai 2023
Link zur Publikation.

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.

Dicke AK, Pilatz A, Wyrwoll MJ, Punab M, Ruckert C, Nagirnaja L, Aston KI, Conrad DF, Di Persio S, Neuhaus N, Fietz D, Laan M, Stallmeyer B, Tüttelmann F
Communications Biology, 31. März 2023
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Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.

Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E
Human Reproduction, 20. Februar 2023
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Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.

Emich J, Gaikwad AS, Stallmeyer B, Fietz D, Schuppe HC, Oud MS, Kliesch S, Gromoll J, Friedrich C, Tüttelmann F
Fertility and Sterility, 24. Dezember 2022
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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
American Journal of Human Genetics, 16. September 2022
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Genetic architecture of azoospermia-time to advance the standard of care.

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
European Urology, 8. Juni 2022
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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F
Human Reproduction, 10. November 2021
Link zur Publikation.