Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns by Sarah Catrin Titgemeyer, Christian P Schaaf

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Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene by Michael D. Fountain, Christian P. Schaaf

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Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome by Michele Bertacchi, Chiara Tocco, Christian P. Schaaf, Michèle Studer

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Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies by Ferdinand Althammer, Francoise Muscatelli, Valery Grinevich, Christian P. Schaaf

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Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome by Laura Dötsch, Lisa Matesevac, Theresa V. Strong, Christian P. Schaaf

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Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome by Tehila Stern, Emeline H. Crutcher, Emeline H. Crutcher, John M. McCarthy, John M. McCarthy, May A. Ali, May A. Ali, Gil Issachar, Amir B. Geva, Ziv Peremen, Christian P. Schaaf, Christian P. Schaaf, Christian P. Schaaf

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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel by Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister, Christian P. Schaaf

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Genetic Variation in <i>LRP1</i> Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome by Philipp Erhart, Daniel Körfer, Caspar Grond-Ginsbach, Jia-Lu Qiao, Moritz S. Bischoff, Maja Hempel, Christian P. Schaaf, Armin Grau, Dittmar Böckler

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Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena 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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Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome by Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco

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The adult phenotype of Schaaf-Yang syndrome by Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler

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aRgus: Multilevel visualization of non-synonymous single nucleotide variants &amp; advanced pathogenicity score modeling for genetic vulnerability assessment by Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl

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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits by Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu

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Correction: Corrigendum: Quantitative real-time imaging of glutathione by Xiqian Jiang, Jianwei Chen, Aleksandar Bajić, Chengwei Zhang, Xianzhou Song, Shaina L. Carroll, Zhao-Lin Cai, Meiling Tang, Mingshan Xue, Ninghui Cheng, Christian P. Schaaf, Feng Li, Kevin R. MacKenzie, Allan Chris M. Ferreon, Fan Xia, Meng C. Wang, Mirjana Maletić-Savatić, Jin Wang

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Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study by Robin P. Goin-Kochel PhD, Fernando Scaglia MD, Christian P. Schaaf MD, PhD, Leandra N. Berry PhD, Dianne Dang, Kerri P. Nowel PhD, Anna L. Laakman, Lauren R. Dowell, Charles G. Minard PhD, Alvin Loh MD, Arthur L. Beaudet MD

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Quantitative real-time imaging of glutathione by Xiqian Jiang, Jianwei Chen, Aleksandar Bajić, Chengwei Zhang, Xianzhou Song, Shaina L. Carroll, Zhao-Lin Cai, Meiling Tang, Mingshan Xue, Ninghui Cheng, Christian P. Schaaf, Feng Li, Kevin R. MacKenzie, Allan Chris M. Ferreon, Fan Xia, Meng C. Wang, Mirjana Maletić-Savatić, Jin Wang

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation by Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A Gillentine, Jill A Rosenfeld, Sumit Parikh, James W Wheless, Elizabeth R Roeder, Dafne DG Horovitz, Erin K Roney, Janice L Smith, Sau W Cheung, Wei Li, Joel R Neilson, Christian P Schaaf, Huda Y Zoghbi

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An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats by Mai Iwasaki, Arthur Lefevre, Ferdinand Althammer, Etienne Clauss Creusot, Olga Łąpieś, Hugues Petitjean, Louis Hilfiger, Damien Kerspern, Meggane Melchior, Stephanie Küppers, Quirin Krabichler, Ryan Patwell, Alan Kania, Tim Gruber, Matthew K. Kirchner, Moritz Wimmer, Henning Fröhlich, Laura Dötsch, Jonas Schimmer, Sabine C. Herpertz, Beate Ditzen, Christian P. Schaaf, Kai Schönig, Dusan Bartsch, Anna Gugula, Aleksandra Trenk, Anna Blasiak, Javier E. Stern, Pascal Darbon, Valery Grinevich, Alexandre Charlet

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NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology by Andreas Mock, Maria-Veronica Teleanu, Simon Kreutzfeldt, Christoph E. Heilig, Jennifer Hüllein, Lino Möhrmann, Arne Jahn, Dorothea Hanf, Irina A. Kerle, Hans Martin Singh, Barbara Hutter, Sebastian Uhrig, Martina Fröhlich, Olaf Neumann, Andreas Hartig, Sascha Brückmann, Steffen Hirsch, Kerstin Grund, Nicola Dikow, Daniel B. Lipka, Marcus Renner, Irfan Ahmed Bhatti, Leonidas Apostolidis, Richard F. Schlenk, Christian P. Schaaf, Albrecht Stenzinger, Evelin Schröck, Daniel Hübschmann, Christoph Heining, Peter Horak, Hanno Glimm, Stefan Fröhling

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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. by Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler

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