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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Werren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L. 分享 收藏
Identification of novel genes including NAV2 associated with isolated tall stature Weiss, Birgit; Ott, Tim; Vick, Philipp; Lui, Julian C.; Roeth, Ralph; Vogel, Sebastian; Waldmueller, Stephan; Hoffmann, Sandra; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A. 分享 收藏
Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study 5-羟色胺3型受体亚单位基因多态性与肠易激综合征心身症状的相关性: 一项多中心回顾性研究 Berens, Sabrina; Dong, Yuanjun; Fritz, Nikola; Walstab, Jutta; D'Amato, Mauro; Zheng, Tenghao; Wahl, Verena; Boekstegers, Felix; Bermejo, Justo Lorenzo; Martinez, Cristina; Schmitteckert, Stefanie; Clevers, Egbert; Engel, Felicitas; Gauss, Annika; Herzog, Wolfgang; Spiller, Robin; Goebel-Stengel, Miriam; Moennikes, Hubert; Andresen, Viola; Thomas, Frieling; Keller, Jutta; Pehl, Christian; Stein-Thoeringer, Christoph; Clarke, Gerard; Dinan, Timothy G.; Quigley, Eamonn M.; Sayuk, Gregory; Simren, Magnus; Tesarz, Jonas; Rappold, Gudrun; van Oudenhove, Lukas; Schaefert, Rainer; Niesler, Beate 分享 收藏
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Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders (May, 10.1038/s41380-021-01140-y, 2021) Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A.; Oettl, Lars-Lennart; Rozov, Andrey; Pitzer, Claudia; Roth, Ralph; Berkel, Simone; Huser, Markus; Harten, Aliona; Kelsch, Wolfgang; Smit, August B.; Rappold, Gudrun A.; Sprengel, Rolf 分享 收藏
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C.; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A.; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A. 分享 收藏
Parkinson mice show functional and molecular changes in the gut long before motoric disease onset Gries, Manuela; Christmann, Anne; Schulte, Steven; Weyland, Maximilian; Rommel, Stephanie; Martin, Monika; Baller, Marko; Roeth, Ralph; Schmitteckert, Stefanie; Unger, Marcus; Liu, Yang; Sommer, Frederik; Muehlhaus, Timo; Schroda, Michael; Timmermans, Jean-Pierre; Pintelon, Isabel; Rappold, Gudrun A.; Britschgi, Markus; Lashuel, Hilal; Menger, Michael D.; Laschke, Matthias W.; Niesler, Beate; Schaefer, Karl-Herbert 分享 收藏
Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A.; Oettl, Lars-Lennart; Rozov, Andrey; Pitzer, Claudia; Roth, Ralph; Berkel, Simone; Huser, Markus; Harten, Aliona; Kelsch, Wolfgang; Smit, August B.; Rappold, Gudrun A.; Sprengel, Rolf 分享 收藏
Expression Profiling of Rectal Biopsies Suggests Altered Enteric Neuropathological Traits in Parkinson's Disease Patients Cossais, Francois; Schaeffer, Eva; Heinzel, Sebastian; Zimmermann, Jessica; Niesler, Beate; Roeth, Ralph; Rappold, Gudrun; Scharf, Amelie; Zorenkov, Dmitri; Lange, Christina; Barrenschee, Martina; Margraf, Nils G.; Ellrichmann, Mark; Berg, Daniela; Boettner, Martina; Wedel, Thilo 分享 收藏
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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease Mederer, Tanja; Schmitteckert, Stefanie; Volz, Julia; Martinez, Cristina; Roeth, Ralph; Thumberger, Thomas; Eckstein, Volker; Scheuerer, Jutta; Thoeni, Cornelia; Lasitschka, Felix; Carstensen, Leonie; Guenther, Patrick; Holland-Cunz, Stefan; Hofstra, Robert; Brosens, Erwin; Rosenfeld, Jill A.; Schaaf, Christian P.; Schriemer, Duco; Ceccherini, Isabella; Rusmini, Marta; Tilghman, Joseph; Luzon-Toro, Berta; Torroglosa, Ana; Borrego, Salud; Tang, Clara Sze-man; Garcia-Barcelo, Merce; Tam, Paul; Paramasivam, Nagarajan; Bewerunge-Hudler, Melanie; De La Torre, Carolina; Gretz, Norbert; Rappold, Gudrun A.; Romero, Philipp; Niesler, Beate 分享 收藏
Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib Selection Sumer, Simon Alexander; Hoffmann, Sandra; Laue, Svenja; Campbell, Birgit; Raedecke, Kristin; Frajs, Viktoria; Clauss, Sebastian; Kaab, Stefan; Janssen, Johannes W. G.; Jauch, Anna; Laugwitz, Karl-Ludwig; Dorn, Tatjana; Moretti, Alessandra; Rappold, Gudrun A. 分享 收藏
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Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disorders Martinez, Cristina; Lasitschka, Felix; Thoeni, Cornelia; Wohlfarth, Carolin; Braun, Alexander; Granzow, Martin; Roeth, Ralph; Dizdar, Vernesa; Rappold, Gudrun A.; Hausken, Trygve; Langeland, Nina; Hanevik, Kurt; Niesler, Beate 分享 收藏
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Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice Foxp1 /-小鼠的运动性和失弛缓症改变显示出自闭症的胃肠功能障碍 Froehlich, Henning; Kollmeyer, Marie Luise; Linz, Valerie Catherine; Stuhlinger, Manuel; Groneberg, Dieter; Reigl, Amelie; Zizer, Eugen; Friebe, Andreas; Niesler, Beate; Rappold, Gudrun 分享 收藏
Postnatal human enteric neurospheres show a remarkable molecular complexity Schmitteckert, Stefanie; Mederer, Tanja; Roeth, Ralph; Guenther, Patrick; Holland-Cunz, Stefan; Metzger, Marco; Samstag, Yvonne; Schroeder-Braunstein, Jutta; Wabnitz, Guido; Kurzhals, Stefan; Scheuerer, Jutta; Beretta, Carlo A.; Lasitschka, Felix; Rappold, Gudrun A.; Romero, Philipp; Niesler, Beate 分享 收藏
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency Simm, Franziska; Griesbeck, Anne; Choukair, Daniela; Weiss, Birgit; Paramasivam, Nagarajan; Klammt, Juergen; Schlesner, Matthias; Wiemann, Stefan; Martinez, Cristina; Hoffmann, Georg F.; Pfaeffle, Roland W.; Bettendorf, Markus; Rappold, Gudrun A. 分享 收藏
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