Publications by authors named "Christian Schaaf"

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Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based Study.
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P Schaaf

Am J Med Genet A· December 2025

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Stress induces oxytocin-Gαi-dependent remodeling of astrocytes to shape neuronal response in the amygdala.
Angel Baudon, Valentin Grelot, Kai-Yi Wang, Ferdinand Althammer, Clémence Denis, Christian P Schaaf

Nat Commun· December 2025

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Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without Mutation.
Sigrun Lang, Peter B Marschik, Zuzanna Laudańska, Bernd Wilken, Christian P Schaaf

J Genet Psychol· November 2025

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Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P Schaaf

Am J Med Genet A· November 2025

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Franziska Degenhardt, Eva Wohlleber, Ingo Spitczok von Brisinski, Benedikt Godo, Franziska Radtke, Christian P Schaaf

Z Kinder Jugendpsychiatr Psychother· November 2025

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Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
Johann G Maass, Dominik Kamionek, Annabelle Mantilleri, Susanne Theiss, Laura Dötsch, Christian P Schaaf

Dis Model Mech· October 2025

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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
David Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, Angeliki Spathopoulou, Marta Suarez-Cubero, Christian P Schaaf

Am J Hum Genet· October 2025

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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Sebastian Burkart, Tarik Guzeloglu, Ana R Soares, Irene Valenzuela, Eduardo F Tizzano, Christian P Schaaf

Clin Genet· October 2025

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In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.
Felix Franke, Semih Ertürk, Johann G Maass, Dominik Kamionek, Tim Schubert, Christian P Schaaf

Sci Rep· October 2025

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Taylor Swift versus Mozart: music preferences of C57BL/6J mice.
Dominik Kamionek, Johann G Maass, Claudia Pitzer, Christian P Schaaf

Front Behav Neurosci· October 2025

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Inhibition of Phosphodiesterase 10A by MP-10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome.
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Christian P Schaaf

Adv Sci (Weinh)· September 2025

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Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulation.
Emilie J Korchak, Mona Sharafi, Isabella Jaen Maisonet, Andres Salazar-Chaparro, Irina V Semenova, Christian P Schaaf

Proc Natl Acad Sci U S A· September 2025

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A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Christian P Schaaf

Am J Med Genet A· August 2025

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Atypical Prader-Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability.
Jannis Buecking, Christian P Schaaf

Mol Genet Genomic Med· August 2025

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Hidden Patterns and Limitations in Carotid Paraganglioma Genetics: Insights from the VASCUNET Multicentre Study.
Philipp Erhart, Dittmar Böckler, Christian P Schaaf

Eur J Vasc Endovasc Surg· August 2025

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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.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Christian P Schaaf

Nat Genet· July 2025

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Professionals and individuals with lived experience of childhood-onset disabilities: Developing networks to improve care.
Rainer Blank, Roslyn Boyd, Christian Schaaf, Sebastian Schroeder

Dev Med Child Neurol· June 2025

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Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany.
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P Schaaf

J Genet Couns· June 2025

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Case Report: A heterozygous loss-of-function variant of the gene in a family with vascular pathologies.
Philipp Erhart, Nicola Dikow, Eva M C Schwaibold, Susanne Dihlmann, Caspar Grond-Ginsbach, Christian P Schaaf

Front Cardiovasc Med· June 2025

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Educational videos in genetic counseling: Meeting patients where they are?
Julia Mahal, Carlotta J Mayer, Sebastian Sailer, Melanie Wittenberg-Marangione, Johanna Tecklenburg, Christian P Schaaf

Genet Med Open· May 2025

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Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.
Michele Bertacchi, Susanne Theiß, Ayat Ahmed, Michael Eibl, Agnès Loubat, Christian Patrick Schaaf

Commun Biol· April 2025

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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 10.
Steffen Hirsch, Ramin Rahmanzade, Kerstin Grund, Christian Sutter, Kathrin Schramm, Christian P Schaaf

Acta Neuropathol· March 2025

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Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme's Activity, Stability, and Allosteric Modulation.
Emilie J Korchak, Mona Sharafi, Isabella Jaen Maisonet, Pilar Caro, Christian P Schaaf

bioRxiv· March 2025

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