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  7. Stöbe, Petra; Stein, Sokrates M. A.; Habring-Müller, Anette; Bezdan, Daniela; Fuchs, Aurelia L.; Hueber, Stefanie D.; Wu, Haijia; Lohmann, Ingrid

    Multifactorial Regulation of a Hox Target Gene

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    Public Library of Science (PLoS), 2009

    Published in: PLoS Genetics, 5 (2009) 3, Seite e1000412

  8. Park, Joohyun; Reilaender, Annemarie; Petry-Schmelzer, Jan N.; Stöbe, Petra; Cordts, Isabell; Harmuth, Florian; Rautenberg, Maren; Woerz, Sarah E.; Demidov, German; Sturm, Marc; Ossowski, Stephan; Schwaibold, Eva M.C.; Wunderlich, Gilbert; Paus, Sebastian; Saft, Carsten; Haack, Tobias B.

    Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

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    Ovid Technologies (Wolters Kluwer Health), 2022

    Published in: Neurology Genetics, 8 (2022) 1

  9. Tropitzsch, Anke; Schade-Mann, Thore; Gamerdinger, Philipp; Dofek, Saskia; Schulte, Björn; Schulze, Martin; Fehr, Sarah; Biskup, Saskia; Haack, Tobias B.; Stöbe, Petra; Heyd, Andreas; Harre, Jennifer; Lesinski-Schiedat, Anke; Büchner, Andreas; Lenarz, Thomas; Warnecke, Athanasia; Müller, Marcus; Vona, Barbara; Dahlhoff, Ernst; Löwenheim, Hubert; Holderried, Martin

    Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

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    Ovid Technologies (Wolters Kluwer Health), 2023

    Published in: Ear & Hearing, 44 (2023) 6, Seite 1464-1484

  10. Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Höhne, Wolfgang; Noegel, Angelika Anna; Al‐Owain, Mohammed; Hörtnagel, Konstanze; Stöbe, Petra; Baig, Shahid Mahmood; Nürnberg, Peter; Alkuraya, Fowzan Sami; [...]

    Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

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    Wiley, 2017

    Published in: Annals of Neurology, 82 (2017) 4, Seite 562-577

  11. Dufke, Andreas; Hoopmann, Markus; Waldmüller, Stephan; Prodan, Natalia Carmen; Beck‐Wödl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Müller, Amelie J.; Grimmel, Mona; Stöbe, Petra; Gauck, Darja; Buchert‐Lo, Rebecca; Baumann, Sarah; Schäferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; [...]

    A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

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    Wiley, 2022

    Published in: Prenatal Diagnosis, 42 (2022) 7, Seite 901-910

  12. Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L.; Allen, William; Angione, Kaitlin M.; Bonati, Maria T.; Brasington, Campbell; Cho, Megan T.; Demmer, Laurie A.; Falik-Zaccai, Tzipora; Gamble, Candace N.; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N.; Smith-Hicks, Constance; [...]

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

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    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics, 104 (2019) 2, Seite 203-212

  13. Falb, Ruth J; Müller, Amelie J; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stöbe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M C; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; [...]

    Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex

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    BMJ, 2023

    Published in: Journal of Medical Genetics, 60 (2023) 1, Seite 48-56

  14. Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, André; [...]

    De novo missense variants in FBXO11 alter its protein expression and subcellular localization

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    Oxford University Press (OUP), 2022

    Published in: Human Molecular Genetics, 31 (2022) 3, Seite 440-454