A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.

Yalcin Z, Liang M, Abdelrazek IM, Friedrich C, Bareke E, Nabil A, Tüttelmann F, Majewski J, Abdalla E, Tan SL, Slim R
Journal of Assisted Reproduction and Genetics, 26. Januar 2024
Link zur Publikation.

Analysis of copy number variation in men with non-obstructive azoospermia.

Wyrwoll MJ, Wabschke R, Röpke A, Wöste M, Ruckert C, Perrey S, Rotte N, Hardy J, Astica L, Lupiáñez DG, Wistuba J, Westernströer B, Schlatt S, Berman AJ, Müller AM, Kliesch S, Yatsenko AN, Tüttelmann F, Friedrich C
Andrology, 30. August 2022
Link zur Publikation.

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.

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé, Aston KI, Baarends WM, Tüttelmann F
Genetics in Medicine, 3. August 2020
Link zur Publikation.

Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility.

Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, GEMINI Consortium, Aston KI, Conrad DF, Vetlman JA, Friedrich C, Tüttelmann F
American Journal of Human Genetics, 15. Juli 2020
Preprint - bioRxiv, 15. Oktober 2019
Link zur Publikation und zum Preprint.

SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility.

Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC
American Journal of Human Genetics, 19. Dezember 2019
Link zur Publikation.

Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.

van der Bijl N, Röpke A, Biswas U, Wöste M, Jessberger R, Kliesch S, Friedrich C, Tüttelmann F
Human Reproduction, 4. November 2019
Link zur Publikation.