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Institute of Human Genetics

Show 1 to 10 of 320 results

Genetics of infertility and "assisted fertilization" in the Bible: The case of Abraham and his family. Simoni, Manuela; Tüttelmann, Frank; Casarini, Livio (2026) In: Andrology, 14(3), 641-650. doi:10.1111/andr.70103 Review article (journal) \| Peer reviewed \| Published
NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis Dicke, Ann-Kristin; Ahmedani, Ammar; Ma, Lin; Herrmann, Leonie; van der Heijden, Godfried W.; Koser, Sophie A.; Krallmann, Claudia; Kalyon, Oguzhan; Xavier, Miguel J.; Veltman, Joris A.; Kliesch, Sabine; Neuhaus, Nina; Kotaja, Noora; Tüttelmann, Frank; Stallmeyer, Birgit (2025) In: Nature Communications, 16(6254). doi:10.1038/s41467-025-61463-0 Research article (journal) \| Peer reviewed \| Published
Genotype-specific differences in infertile men due to loss-of-function variants in <i>M1AP</i> or ZZS genes Rotte, Nadja; Dunleavy, Jessica E. M.; Runkel, Michelle D.; Bosse, Lina; Fietz, Daniela; Pilatz, Adrian; Kuss, Johanna; Dicke, Ann-Kristin; Winge, Sofia B.; Di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira K.; Tuettelmann, Frank; Friedrich, Corinna (2025) In: EMBO Molecular Medicine, 17(6). doi:10.1038/s44321-025-00244-0 Research article (journal) \| Peer reviewed \| Published
M1AP in meiotic recombination: genotype-specific differences in meiotic arrest Rotte, Nadja; Dunleavy, Jessica; Runkel, Michelle Diane; Fietz, D.; Pilatz, Adrian; Kuss, Johanna; Ann-Kristin, Dicke; Winge, Sofia Boeg; di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira; Tuettelmann, Frank; Friedrich, Corinna (2025) In: European Journal of Human Genetics, 32. Research article (journal) \| Peer reviewed \| Published
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility Gaikwad, Avinash S; Wyrwoll, Margot J; Koser, Sophie A; Emich, Jana; Kuß, Johanna; Aravina, Mariya; Krallmann, Claudia; Gromoll, Jörg; Kliesch, Sabine; Laurentino, Sandra; Stallmeyer, Birgit; Friedrich, Corinna; Tüttelmann, Frank (2025) In: EBioMedicine, 119. doi:10.1016/j.ebiom.2025.105899 Research article (journal) \| Peer reviewed \| Published
TREK1 Channels Shape Spindle-Like Oscillations, Neuronal Activity, and Short-Term Synaptic Plasticity in Thalamocortical Circuits. In: . \| Peer reviewed
Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation In: . \| Peer reviewed
Deep learning predicts therapy-relevant genetics in acute myeloid leukemia from Pappenheim-stained bone marrow smears In: , -. \| Peer reviewed
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. In: , -. \| Peer reviewed
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. In: , -. \| Peer reviewed

Labbaf A; Krauth V; Rychlik N; Narayanan Naik V; Vinnenberg L; Karabatak E; Teasley A; Perissinotti PP; White JA; Meuth SG; van Luijtelaar G; Urbano FJ; Budde T; Zobeiri M

(2025)

Journal of Neuroscience

, 45

(45)

doi:10.1523/JNEUROSCI.0432-24.2025

Research article (journal)

| accepted / in press (not yet published)

Young S; Schiffer C; Wagner A; Patz J; Potapenko A; Herrmann L; Nordhoff V; Pock T; Krallmann C; Stallmeyer B; Röpke A; Kierzek M; Biagioni C; Wang T; Haalck L; Deuster D; Hansen JN; Wachten D; Risse B; Behre HM; Schlatt S; Kliesch S; Tüttelmann F; Brenker C; Strünker T

(2024)

Journal of Clinical Investigation

, 134

(1)

doi:10.1172/JCI173564

Research article (journal)

| Published

Kockwelp, Jacqueline; Thiele, Sebastian; Bartsch, Jannis; Haalck, Lars; Gromoll, Jörg; Schlatt, Stefan; Exeler, Rita; Bleckmann, Annalen; Lenz, Georg; Wolf, Sebastian; Steffen, Björn; Berdel, Wolfgang Eduard; Schliemann, Christoph; Risse, Benjamin; Angenendt, Linus

(2024)

Blood Advances

, 8

(1)

doi:10.1182/bloodadvances.2023011076

Research article (journal)

| Published

Yalcin Z; Liang M; Abdelrazek IM; Friedrich C; Bareke E; Nabil A; Tüttelmann F; Majewski J; Abdalla E; Tan SL; Slim R

(2024)

Journal of Assisted Reproduction and Genetics

, 41

(3)

751

756

doi:10.1007/s10815-024-03031-x

Research article (journal)

| Published

Houston BJ; Nguyen J; Merriner DJ; O'Connor AE; Lopes AM; Nagirnaja L; Friedrich C; Kliesch S; Tüttelmann F; Aston KI; Conrad DF; Hobbs RM; Dunleavy JEM; O'Bryan MK

(2024)

Cell Death and Disease

, 15

(7)

499

doi:10.1038/s41419-024-06874-5

Research article (journal)

| Published

Genetics of infertility and "assisted fertilization" in the Bible: The case of Abraham and his family. Simoni, Manuela; Tüttelmann, Frank; Casarini, Livio (2026) In: Andrology, 14(3), 641-650. doi:10.1111/andr.70103 Review article (journal) \| Peer reviewed \| Published
NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis Dicke, Ann-Kristin; Ahmedani, Ammar; Ma, Lin; Herrmann, Leonie; van der Heijden, Godfried W.; Koser, Sophie A.; Krallmann, Claudia; Kalyon, Oguzhan; Xavier, Miguel J.; Veltman, Joris A.; Kliesch, Sabine; Neuhaus, Nina; Kotaja, Noora; Tüttelmann, Frank; Stallmeyer, Birgit (2025) In: Nature Communications, 16(6254). doi:10.1038/s41467-025-61463-0 Research article (journal) \| Peer reviewed \| Published
Genotype-specific differences in infertile men due to loss-of-function variants in <i>M1AP</i> or ZZS genes Rotte, Nadja; Dunleavy, Jessica E. M.; Runkel, Michelle D.; Bosse, Lina; Fietz, Daniela; Pilatz, Adrian; Kuss, Johanna; Dicke, Ann-Kristin; Winge, Sofia B.; Di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira K.; Tuettelmann, Frank; Friedrich, Corinna (2025) In: EMBO Molecular Medicine, 17(6). doi:10.1038/s44321-025-00244-0 Research article (journal) \| Peer reviewed \| Published
M1AP in meiotic recombination: genotype-specific differences in meiotic arrest Rotte, Nadja; Dunleavy, Jessica; Runkel, Michelle Diane; Fietz, D.; Pilatz, Adrian; Kuss, Johanna; Ann-Kristin, Dicke; Winge, Sofia Boeg; di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira; Tuettelmann, Frank; Friedrich, Corinna (2025) In: European Journal of Human Genetics, 32. Research article (journal) \| Peer reviewed \| Published
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility Gaikwad, Avinash S; Wyrwoll, Margot J; Koser, Sophie A; Emich, Jana; Kuß, Johanna; Aravina, Mariya; Krallmann, Claudia; Gromoll, Jörg; Kliesch, Sabine; Laurentino, Sandra; Stallmeyer, Birgit; Friedrich, Corinna; Tüttelmann, Frank (2025) In: EBioMedicine, 119. doi:10.1016/j.ebiom.2025.105899 Research article (journal) \| Peer reviewed \| Published
TREK1 Channels Shape Spindle-Like Oscillations, Neuronal Activity, and Short-Term Synaptic Plasticity in Thalamocortical Circuits. In: . \| Peer reviewed
Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation In: . \| Peer reviewed
Deep learning predicts therapy-relevant genetics in acute myeloid leukemia from Pappenheim-stained bone marrow smears In: , -. \| Peer reviewed
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. In: , -. \| Peer reviewed
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. In: , -. \| Peer reviewed