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Christian P. Schaaf

Institute of Human Genetics

54H指数
347论文数
1.0W被引数
收录论文 126
发表时间
Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study多学科管理与儿科癌症易感综合征的遗传评估:一项回顾性队列研究
err2026-09-25
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errNicola Dikow; Anna Lisa Nitschke; Steffen Hirsch; Eva Roth; Laura Orec; Tom Fischer; Daniela Choukair; Kerstin Grund; Peggy Lüttich; Christian Sutter; Katrin Hinderhofer; Heiko Brennenstuhl; Cornelis M. van Tilburg; Olaf Witt; Markus Großmüller; Alexander Fichtner; Katrin Willig; David T. W. Jones; Maja Hempel; Andreas E. Kulozik; Ute Bartels; Till Milde; Christian P. Schaaf; Stefan M. Pfister; Joachim Kunz; Kristian W. Pajtler
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Molecular characterization of mismatch repair deficient tumors in young Jordanian patients年轻约旦患者中错配修复缺陷肿瘤的分子特征
err2026-08-17
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errOlfat Ahmad; Iyad Sultan; Maysa Hussaini; Osama Alsmadi; Christian Sutter; Steffen Hirsch; Robert J. Autry; Christopher Previti; Asta Försti; Benjamin Schwalm; Lama AbuJamous; Nisreen Amayiri; Mayada Abu Shanap; Rola Amareen; Salsabeel Aljawabrah; Lara Fryjat; Aya Al-Naimat; Areen Qaisi; Hala Alnaimat; David E. Reuss; Nicholas R. Fernandez; Anirban Das; Uri Tabori; Stefan M. Pfister; Christian P. Schaaf
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Perceptions of simulated artificial intelligence in medical consultations: associations with stress, memory, and perceived credibility模拟人工智能在医疗咨询中的感知:与压力、记忆和感知可信度的关联
err2026-07-29
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errCarlotta J. Mayer; Tristan L. Swysen; Tobias R. Kurz; Tobias I. Stephan; Daniela Geisel; Elena S. Doll; Nassim Mahal; Seraina P. Lerch; Sebastian Sailer; Christian P. Schaaf; Christian J. Merz; Torsten Wüstenberg; Johannes C. Ehrenthal; Steffen Walter; Julia Mahal; Beate Ditzen
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Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis双胞胎中的聚集单等位基因嵌合现象表明存在此前未被认识的致突变路径
err2026-06-23
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errJonas Böhnlein; Johann G. Maass; Julia Dennig; Sebastian Burkart; Lilian T. Kaufmann; Michelle Brehm; Kirsten Göbel; Annette Kopp-Schneider; Tim Holland-Letz; Laurine K. Sprehe; Katrin Hinderhofer; Maja Hempel; Christian P. Schaaf
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Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature纳米孔测序技术实现了USP7基因变异与已知的Hao-Fountain综合征表观签名的同时检测。
err2026-01-05
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errLiselot van der Laan; Martin A. Haagmans; Andrea Venema; Jennifer Kerkhof; Michael A. Levy; Silvana Briuglia; Pilar Caro; Sebastian Sailer; Christian P. Schaaf; Bekim Sadikovic; Mieke M. van Haelst; Mariëlle van Gijn; Mariëlle Alders; Peter Henneman
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Systemic Interleukin-4 Application Promotes Functional Recovery and Reprograms Neuroinflammatory and Molecular Responses after Spinal Cord Injury in RatsAlhalabi, O.T.; Heene, S.; Zheng, G.; Heller, R.; Schubert, T.; Luzarowski, M.; Zha, X.; Walter, J.; Hansen-Palmus, L.; Biglari, B.; 等. 系统性白介素-4应用促进大鼠脊髓损伤后的功能恢复并重编程神经炎症和分子反应。Theranostics 2026, 16, 4726–4744. [Google Scholar] [CrossRef]
err2026-01-01
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PREAI
errAlhalabi, Obada Taleb; Heene, Stefan; Zheng, Guoli; Heller, Raban; Schubert, Tim; Luzarowski, Marcin; Zha, Xiaowei; Walter, Johannes; Hansen-Palmus, Lea; Biglari, Bahram; Wang, Xing-Jin; Ruebenacker, Laura; Skutella, Thomas; Kiening, Karl; Schaaf, Christian Patrick; Krieg, Sandro Manuel; Unterberg, Andreas Wilhelm; Zweckberger, Klaus; Younsi, Alexander
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First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha-Heidelberg Collaboration卡塔尔首个全国性扩展基因组新生儿筛查计划;一项试点研究,多哈-海德堡合作
err2026-01-01
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PREAI
errAlsulaiman, Reem; Okashah, Sarah; Badji, Radja Messai; Abbaszadeh, Fatemeh; Alsarraj, Yaser; Abdulrahman, Rehab Ali; Shahbeck, Noora; Moideen, Thalib; El Hassan, Reema; Al-Hamaydeh, Fatima; Alkuwari, Einas; Ismail, Said; Rifai, Hilal Al-; Abdoh, Ghassan; Schaaf, Christian P.; Hoffmann, Georg; Al-Kaabi, Saad; Al-Muftah, Wadha; Ben-Omran, Tawfeg
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Stress induces oxytocin-Gαi-dependent remodeling of astrocytes to shape neuronal response in the amygdala应激诱导催产素-Gαi依赖性的星形胶质细胞重塑,以塑造杏仁核中的神经元反应。
err2025-12-29
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errAngel Baudon; Valentin Grelot; Kai-Yi Wang; Ferdinand Althammer; Clémence Denis; Pierre Riché-Piotaix; Azmal Syed Ali; Yudong Yan; Fernando Castillo Díaz; Francesca Piacentini; Etienne Clauss Creusot; Volodya Hovhannisyan; Tim Schubert; Annabel C. Kleinwaechter; Eva M. Eisemann; Jabir Aliyu Muhammad; Jemima Helen; Tom Lakomy; Quirin Krabichler; Rachel Breton; Virginie Andry; Maria-Angeles Carrillo-de Sauvage; Valérie Demais; Aurélia Cès; Felix Franke; Franziska Schommer; Mélanie Kremer; Barbara Di Benedetto; Yannick Goumon; Christian P. Schaaf; Valery Grinevich; Nathalie Rouach; Pascal Darbon; Inga D. Neumann; Antoine Adamantidis; Marta Busnelli; Lucile Benhaim; Jeroen Krijgsveld; Frank W. Pfrieger; Alexandre Charlet
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Genetische Diagnostik bei Kindern- und Jugendlichen mit psychischen Störungen儿童和青少年精神障碍的遗传学诊断
err2025-11-01
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PREAI
errDegenhardt, Franziska; Wohlleber, Eva; Spitczok Von Brisinski, Ingo; Godo, Benedikt; Radtke, Franziska; Freitag, Christine M.; Holtmann, Martin; Hinney, Anke; Siniatchkin, Michael; Schaaf, Christian P.; Hebebrand, Johannes; Nothen, Markus M.
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case SeriesPRKAR1B相关Marbach–Schaaf神经发育综合征表型和基因型谱的扩展:一项病例系列研究
err2025-10-29
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errSebastian Burkart; Tarik Guzeloglu; Ana R. Soares; Irene Valenzuela; Eduardo F. Tizzano; David Gómez-Andres; Laurent Pasquier; Marine Legendre; Camille Berges; Julien Thevenon; Marjolaine Gauthier; Caleb Heid; Elly Ranum; Joseph Shen; Michelle Frees; Michael W. Schmidtke; Caro Pilar; Christian P. Schaaf
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Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior博世-博恩斯特-肖аф视神经萎缩综合征的模型揭示了基因型-表型相关性在脑结构和行为中的作用。
err2025-10-01
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errMaass, Johann G.; Kamionek, Dominik; Mantilleri, Annabelle; Theiss, Susanne; Dotsch, Laura; Franke, Felix; Schubert, Tim; Scheck, Jonas G.; Pitzer, Claudia; Piovani, Paolo; Bertacchi, Michele; Deschaux, Olivier; Singh, Anubhav; Chen, Chun-An; Frohlich, Henning; Studer, Michele; Schaaf, Christian P.
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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromesMAGEL2的截短变体参与了Schaaf-Yang综合征和Prader-Willi综合征的病因学。
err2025-09-12
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PREAI
errDavid Heimdörfer; Alexander Vorleuter; Alexander Eschlböck; Angeliki Spathopoulou; Marta Suarez-Cubero; Hesso Farhan; Veronika Reiterer; Melanie Spanjaard; Christian P. Schaaf; Lukas A. Huber; Leopold Kremser; Bettina Sarg; Frank Edenhofer; Stephan Geley; Mariana E.G. de Araujo; Alexander Huettenhofer
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Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?Wilson and Jungner Revisited: 21世纪筛查标准是否适用?
err2025-08-21
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PREAI
errElena Schnabel-Besson; Ulrike Mütze; Nicola Dikow; Friederike Hörster; Marina A. Morath; Karla Alex; Heiko Brennenstuhl; Sascha Settegast; Jürgen G. Okun; Christian P. Schaaf; Eva C. Winkler; Stefan Kölker
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings作者更正: 将下一代表型整合到超早期疾病患者的国家框架中,可改善遗传诊断并产生新的分子发现
err2025-06-24
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errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo使用基于抗体的体外和体内方法解析核仁NR2F1定位之谜
err2025-04-10
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errBertacchi, Michele; Theiss, Susanne; Ahmed, Ayat; Eibl, Michael; Loubat, Agnes; Maharaux, Gwendoline; Phromkrasae, Wanchana; Chakrabandhu, Krittalak; Camgoez, Aylin; Antonaci, Marco; Schaaf, Christian Patrick; Studer, Michele; Laugsch, Magdalena
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Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10PTEN基因的胚系变异:在伴有孤立性10号染色体丢失的松果体区乳头状肿瘤亚型B(PTPR-B)患者中是一种常见发现
err2025-03-14
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errHirsch, S; Rahmanzade, R; Grund, K; Sutter, C; Schramm, K; Selt, F; Ecker, J; Jones, BC; Schrimpf, D; Demmert, M; Stücklin, ASG; Driever, PH; Mezger, M; Brecht, I; Adib, SD; Brummel, B; Sturm, D; Dikow, N; Hempel, M; Milde, T; Pajtler, K; Jones, DTW; Pfister, SM; von Deimling, A; Sahm, F; Schaaf, CP
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The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome博施-邦斯特拉-肖夫视神经萎缩综合征的自然病程
err2025-02-19
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errIlia Valentin; Pilar Caro; Christine Fischer; Heiko Brennenstuhl; Christian P. Schaaf
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Comparative analysis of gene and disease selection in genomic newborn screening studies Response基因组新生儿筛查研究中基因与疾病选择比较分析的回复
err2025-01-14
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PREAI
errBetzler, Isabel R.; Hempel, Maja; Muetze, Ulrike; Koelker, Stefan; Winkler, Eva; Dikow, Nicola; Garbade, Sven F.; Schaaf, Christian P.
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