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

by Michael D. Fountain, Christian P. Schaaf
Published 2016-01-01

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
Published 2021-01-01

Solid-state dewetting of single- and bilayer Au-W thin films: Unraveling the role of individual layer thickness, stacking sequence and oxidation on morphology evolution

by A. Herz, A. Franz, F. Theska, M. Hentschel, Th. Kups, D. Wang, P. Schaaf
Published 2016-03-01

A hyperfine look at titanium dioxide

by J. Schell, D. Zyabkin, Doru C. Lupascu, Hans-Christian Hofsäss, M. O. Karabasov, A. Welker, P. Schaaf
Published 2019-08-01

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

by Jiani Yin, Chun-An Chun, Nikolay N. Zavadenko, Natalia L. Pechatnikova, Oxana Yu. Naumova, Harsha V. Doddapaneni, Jianhong Hu, Donna M. Muzny, Christian P. Schaaf, Elena L. Grigorenko
Published 2020-07-01

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
Published 2020-10-01

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
Published 2017-10-01

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
Published 2017-07-01

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
Published 2019-02-01

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
Published 2015-08-01

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
Published 2020-11-01

Identification of novel candidate disease genes from de novo exonic copy number variants

by Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Published 2017-09-01