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R. Schroer

American Journal of Human Genetics, Neuroscience Letters, Nature Genetics, American journal of medical genetics, European Journal of Human Genetics, American Journal of Medical Genetics. Part A, The Lancet, Proceedings of the National Academy of Sciences of the United States of America Show more
11
Role
Title
Level Year L/R
🐜 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
34 auth. A. Sharp, H. Mefford, Kelly Li, Carl A. Baker, C. Skinner, R. Stevenson, R. Schroer, F. Novara, M. Gregori, R. Ciccone, A. Broomer, I. Casuga, Yu Wang, Chunling Xiao, Catalin C. Barbacioru, ... G. Gimelli, B. Bernardina, C. Torniero, R. Giorda, R. Regan, V. Murday, S. Mansour, M. Fichera, L. Castiglia, P. Failla, M. Ventura, Zhaoshi Jiang, G. Cooper, S. Knight, C. Romano, O. Zuffardi, Caifu Chen, C. Schwartz, E. Eichler 		9 2008
9
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🦁 Autism and maternally derived aberrations of chromosome 15q.
11 auth. R. Schroer, M. C. Phelan, R. Michaelis, E. Crawford, Steven A. Skinner, M. L. Cuccaro, ... R. Simensen, Janet Bishop, C. Skinner, D. Fender, R. Stevenson 		8 1998
8
🦁
🐜 High frequency of neurexin 1β signal peptide structural variants in patients with autism
10 auth. Jinong Feng, R. Schroer, Jin Yan, Wenjia Song, Chunmei Yang, A. Bockholt, ... E. Cook, C. Skinner, C. Schwartz, S. Sommer 		7 2006
7
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🐜 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
17 auth. L. Boccuto, M. Lauri, S. Sarasua, C. Skinner, D. Buccella, A. Dwivedi, Daniela Orteschi, J. S. Collins, M. Zollino, Paola Visconti, ... B. Dupont, D. Tiziano, R. Schroer, G. Neri, R. Stevenson, F. Gurrieri, C. Schwartz 		7 2012
7
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🐜 A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
13 auth. Yong-hui Jiang, T. Sahoo, R. Michaelis, D. Bercovich, J. Bressler, C. Kashork, Qian Liu, L. Shaffer, R. Schroer, D. Stockton, ... R. Spielman, R. Stevenson, A. Beaudet 		7 2004
7
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🐬 Autism and macrocephaly
R. Stevenson, R. Schroer, C. Skinner, D. Fender, R. Simensen 		7 1997
7
🐬
🐜 Neurexin 1α structural variants associated with autism
9 auth. Jin Yan, Katie Noltner, Jinong Feng, Wenyan Li, R. Schroer, C. Skinner, ... Wenqi Zeng, C. Schwartz, S. Sommer 		7 2008
7
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🐜 A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
36 auth. PatrΓ­cia B. S. Celestino-Soper, S. Violante, Emily L. Crawford, Rui Luo, A. C. Lionel, Elsa Delaby, Guiqing Cai, Bekim Sadikovic, Kwanghyuk Lee, Charlene Lo, Kun Gao, R. Person, T. Moss, J. German, N. Huang, ... M. Shinawi, D. Treadwell-Deering, P. Szatmari, W. Roberts, B. Fernandez, R. Schroer, R. Stevenson, J. Buxbaum, C. Betancur, S. Scherer, Stephan J Sanders, D. Geschwind, J. Sutcliffe, M. Hurles, R. Wanders, C. Shaw, S. Leal, E. Cook, R. Goin-Kochel, F. Vaz, A. Beaudet 		6 2012
6
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🐜 Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
12 auth. K. Bhalla, Yue Luo, T. Buchan, Michael A Beachem, G. Guzauskas, S. Ladd, ... Shelly J Bratcher, R. Schroer, J. Balsamo, B. Dupont, J. Lilien, A. Srivastava 		6 2008
6
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🐜 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
12 auth. Kimberly Hahn, G. Salomons, D. Tackels-Horne, T. Wood, H. Taylor, R. Schroer, ... H. Lubs, C. Jakobs, Rick L Olson, K. Holden, R. Stevenson, C. Schwartz 		6 2002
6
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🐜 Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
55 auth. I. Kapferer-Seebacher, M. Pepin, Roland Werner, T. Aitman, A. Nordgren, H. Stoiber, N. Thielens, C. Gaboriaud, A. Amberger, A. Schossig, R. Gruber, C. Giunta, M. Bamshad, E. BjΓΆrck, Christina Chen, ... D. Chitayat, M. Dorschner, Marcus Schmitt-Egenolf, Christopher J. Hale, D. Hanna, H. Hennies, Irene Heiss-Kisielewsky, A. Lindstrand, P. Lundberg, A. Mitchell, D. Nickerson, E. Reinstein, M. Rohrbach, N. Romani, M. Schmuth, R. Silver, F. Taylan, A. Vandersteen, J. Vandrovcova, R. Weerakkody, Margaret Yang, F. Pope, K. Aleck, Z. BΓ‘nki, J. Dudas, H. Dumfahrt, H. Haririan, J. Hartsfield, C. Kagen, Uschi Lindert, T. Meitinger, W. Posch, C. Pritz, D. Ross, R. Schroer, G. Wick, R. Wildin, D. Wilflingseder, P. Byers, J. Zschocke 		6 2016
6
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