Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen

por Brennenstuhl, Heiko, Schaaf, Christian P.
Publicado 2023

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

por Fountain, Michael D., Schaaf, Christian P.
Publicado 2016

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

por Titgemeyer, Sarah Catrin, Schaaf, Christian P
Publicado 2022

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

por Bertacchi, Michele, Tocco, Chiara, Schaaf, Christian P., Studer, Michèle
Publicado 2022

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

por Althammer, Ferdinand, Muscatelli, Francoise, Grinevich, Valery, Schaaf, Christian P.
Publicado 2022

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes

por Yin, Jiani, Chen, Wu, Yang, Hongxing, Xue, Mingshan, Schaaf, Christian P.
Publicado 2017

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

por Ahmad, Olfat, Sutter, Christian, Hirsch, Steffen, Pfister, Stefan M., Schaaf, Christian P.
Publicado 2023

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome

por Crutcher, Emeline, Pal, Rituraj, Naini, Fatemeh, Zhang, Ping, Laugsch, Magdalena, Kim, Jean, Bajic, Aleksandar, Schaaf, Christian P.
Publicado 2019

Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome

por Erhart, Philipp, Körfer, Daniel, Grond-Ginsbach, Caspar, Qiao, Jia-Lu, Bischoff, Moritz S., Hempel, Maja, Schaaf, Christian P., Grau, Armin, Böckler, Dittmar
Publicado 2022

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

por El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Publicado 2015

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome

por Stern, Tehila, Crutcher, Emeline H., McCarthy, John M., Ali, May A., Issachar, Gil, Geva, Amir B., Peremen, Ziv, Schaaf, Christian P.
Publicado 2021

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex

por Ballinger, Elizabeth C., Schaaf, Christian P., Patel, Akash J., de Maio, Antonia, Tao, Huifang, Talmage, David A., Zoghbi, Huda Y., Role, Lorna W.
Publicado 2019

Multiple Arterial Dissections and Connective Tissue Abnormalities

por Erhart, Philipp, Körfer, Daniel, Dihlmann, Susanne, Qiao, Jia-Lu, Hausser, Ingrid, Ringleb, Peter, Männer, Jörg, Dikow, Nicola, Schaaf, Christian P., Grond-Ginsbach, Caspar, Böckler, Dittmar
Publicado 2022

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

por Schaaf, Christian P., Sabo, Aniko, Sakai, Yasunari, Crosby, Jacy, Muzny, Donna, Hawes, Alicia, Lewis, Lora, Akbar, Humeira, Varghese, Robin, Boerwinkle, Eric, Gibbs, Richard A., Zoghbi, Huda Y.
Publicado 2011

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

por Yin, Jiani, Chun, Chun-An, Zavadenko, Nikolay N., Pechatnikova, Natalia L., Naumova, Oxana Yu., Doddapaneni, Harsha V., Hu, Jianhong, Muzny, Donna M., Schaaf, Christian P., Grigorenko, Elena L.
Publicado 2020

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome

por Reznik, Derek L., Yang, Mingxiao V., Albelda de la Haza, Pedro, Jain, Antrix, Spanjaard, Melanie, Theiss, Susanne, Schaaf, Christian P., Malovannaya, Anna, Strong, Theresa V., Veeraragavan, Surabi, Samaco, Rodney C.
Publicado 2023

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study

por Goin-Kochel, Robin P., Scaglia, Fernando, Schaaf, Christian P., Berry, Leandra N., Dang, Dianne, Nowel, Kerri P., Laakman, Anna L., Dowell, Lauren R., Minard, Charles G., Loh, Alvin, Beaudet, Arthur L.
Publicado 2019

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

por Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
Publicado 2012

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

por Schaaf, Christian P., Gonzalez-Garay, Manuel L., Xia, Fan, Potocki, Lorraine, Gripp, Karen W., Zhang, Baili, Peters, Brock A., McElwain, Mark A., Drmanac, Radoje, Beaudet, Arthur L., Caskey, C. Thomas, Yang, Yaping
Publicado 2013

Schaaf‐Yang syndrome overview: Report of 78 individuals

por McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.
Publicado 2018