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

Wyrwoll, Margot J; Temel, Şehime G; Nagirnaja, Liina; Oud, Manon S; Lopes, Alexandra M; van der Heijden, Godfried W; Heald, James S; Rotte, Nadja; Wistuba, Joachim; Wöste, Marius; Ledig, Susanne; Krenz, Henrike; Smits, Roos M; Carvalho, Filipa; Gonçalves, João; Fietz, Daniela; Türkgenç, Burcu; Ergören, Mahmut C; Çetinkaya, Murat; Başar, Murad; Kahraman, Semra; McEleny, Kevin; Xavier, Miguel J; Turner, Helen; Pilatz, Adrian; Röpke, Albrecht; Dugas, Martin; Kliesch, Sabine; Neuhaus, Nina; GEMINI Consortium; Aston, Kenneth I; Conrad, Donald F; Veltman, Joris A; Friedrich, Corinna; Tüttelmann, Frank (2020)
In: American Journal of Human Genetics, 107(2)
Type of Publication: Research article (journal)

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria

Andonova S., Robeva R., Vazharova R., Ledig S., Grozdanova L., Stefanova E., Bradinova I., Todorov T., Hadjidekov G., Sirakov M., Wieacker P., Kumanov P., Savov A. (2017)
In: Sexual Development, 11(1)
Type of Publication: Research article (journal)

Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A (2011)
In: PloS one, 6(4)
Type of Publication: Research article (journal)

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P (2010)
In: Sexual Development, 4(3)
Type of Publication: Research article (journal)

Copy number variants in premature ovarian failure and ovarian dysgenesis.

Ledig S, Röpke A, Wieacker P (2010)
In: Sexual Development, 4(4-5)
Type of Publication: Research article (journal)

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Genetic Architecture of Azoospermia-Time to Advance the Standard of Care. Wyrwoll, Margot J; Köckerling, Nils; Vockel, Matthias; Dicke, Ann-Kristin; Rotte, Nadja; Pohl, Eva; Emich, Jana; Wöste, Marius; Ruckert, Christian; Wabschke, Rebecca; Seggewiss, Jochen; Ledig, Susanne; Tewes, Ann-Christin; Stratis, Yvonne; Cremers, Jann-Frederik; Krallmann, Claudia; Wistuba, Joachim; Röpke, Albrecht; Kliesch, Sabine; Friedrich, Corinna; Stallmeyer, Birgit; Tüttelmann, Frank (2022) In: European Urology, 83(5) Type of Publication: Research article (journal)
Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility. Wyrwoll, Margot J; Temel, Şehime G; Nagirnaja, Liina; Oud, Manon S; Lopes, Alexandra M; van der Heijden, Godfried W; Heald, James S; Rotte, Nadja; Wistuba, Joachim; Wöste, Marius; Ledig, Susanne; Krenz, Henrike; Smits, Roos M; Carvalho, Filipa; Gonçalves, João; Fietz, Daniela; Türkgenç, Burcu; Ergören, Mahmut C; Çetinkaya, Murat; Başar, Murad; Kahraman, Semra; McEleny, Kevin; Xavier, Miguel J; Turner, Helen; Pilatz, Adrian; Röpke, Albrecht; Dugas, Martin; Kliesch, Sabine; Neuhaus, Nina; GEMINI Consortium; Aston, Kenneth I; Conrad, Donald F; Veltman, Joris A; Friedrich, Corinna; Tüttelmann, Frank (2020) In: American Journal of Human Genetics, 107(2) Type of Publication: Research article (journal)
Four novel NR5A1 mutations in 46,XY gonadal dysgenesis patients including frameshift mutations with altered subcellular SF-1 localization Rehkämper J., Tewes A., Horvath J., Scherer G., Wieacker P., Ledig S. (2018) In: Sexual Development, 11(null) Type of Publication: Research article (journal)
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria Andonova S., Robeva R., Vazharova R., Ledig S., Grozdanova L., Stefanova E., Bradinova I., Todorov T., Hadjidekov G., Sirakov M., Wieacker P., Kumanov P., Savov A. (2017) In: Sexual Development, 11(1) Type of Publication: Research article (journal)
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P (2011) In: Fertility and Sterility, 95(5) Type of Publication: Research article (journal)
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A (2011) In: PloS one, 6(4) Type of Publication: Research article (journal)
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P (2010) In: Human Reproduction, 25(10) Type of Publication: Research article (journal)
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P (2010) In: Sexual Development, 4(3) Type of Publication: Research article (journal)
New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Bashamboo A, Ledig S, Wieacker P, Achermann JC, Achermann J, McElreavey K (2010) In: Sexual Development, 4(4-5) Type of Publication: Research article (journal)
Copy number variants in premature ovarian failure and ovarian dysgenesis. Ledig S, Röpke A, Wieacker P (2010) In: Sexual Development, 4(4-5) Type of Publication: Research article (journal)