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, January 26, 2024
Link to the publication.

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, August 30, 2022
Link to the publication.

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, November 10, 2021
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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, August 3, 2020
Link to the publication.

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, July 15, 2020
Preprint - bioRxiv, October 15, 2019
Link to the publication and 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, December 19, 2020
Link to the publication.

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, November 4, 2019
Link to the publication.