BetterScholar BetterScholar
9
Role
Title
Level Year L/R
๐Ÿœ A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
59 auth. S. Girirajan, J. Rosenfeld, G. Cooper, F. Antonacci, P. Siswara, A. Itsara, Laura Vives, T. Walsh, S. McCarthy, Carl A. Baker, H. Mefford, J. Kidd, S. Browning, B. Browning, D. Dickel, ... D. Levy, B. Ballif, Kathryn Platky, D. Farber, G. Gowans, J. J. Wetherbee, A. Asamoah, D. Weaver, P. Mark, Jennifer Dickerson, B. Garg, S. Ellingwood, Rosemarie Smith, V. Banks, Wendy E Smith, M. McDonald, J. Hoo, B. French, Cindy Hudson, John P. Johnson, J. Ozmore, J. Moeschler, U. Surti, Luis Fernando Gonzรกlez Escobar, Dima El-Kechen, J. Gorski, Jennifer Kussman, B. Salbert, Y. Lacassie, Alisha Biser, D. McDonald-McGinn, E. Zackai, M. Deardorff, T. Shaikh, E. Haan, K. Friend, M. Fichera, C. Romano, J. Gรฉcz, L. DeLisi, J. Sebat, M. King, L. Shaffer, E. Eichler
9 2010
9
๐Ÿœ
๐Ÿœ Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
31 auth. B. Ballif, A. Theisen, J. Rosenfeld, Ryan N. Traylor, J. Gastier-Foster, J. Gastier-Foster, D. Thrush, D. Thrush, Caroline Astbury, Caroline Astbury, Dennis Bartholomew, Dennis Bartholomew, Kim L McBride, Kim L McBride, R. Pyatt, ... R. Pyatt, Kate P. Shane, Kate P. Shane, Wendy E Smith, V. Banks, William B. Gallentine, P. Brock, M. K. Rudd, M. Adam, J. Keene, J. Phillips, Jean P. Pfotenhauer, G. Gowans, P. Stankiewicz, B. Bejjani, L. Shaffer
6 2010
6
๐Ÿœ
๐Ÿœ Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex lowโ€copy repeats
53 auth. P. Stankiewicz, S. Kulkarni, Avinash V Dharmadhikari, S. Sampath, S. Bhatt, T. Shaikh, Z. Xia, A. Pursley, M. L. Cooper, M. Shinawi, A. Paciorkowski, D. Grange, M. Noetzel, Scott Saunders, Paul Simons, ... M. Summar, Brendan H. Lee, F. Scaglia, F. Fellmann, D. Martinet, J. Beckmann, A. Asamoah, Kathryn Platky, S. Sparks, Ann S. Martin, Suneeta Madanโ€Khetarpal, J. Hoover, L. Medne, C. Bonnemann, J. Moeschler, Stephanie E. Vallee, S. Parikh, P. Irwin, Victoria P. Dalzell, Wendy E Smith, V. Banks, D. Flannery, Carolyn Lovell, G. Bellus, Kathryn Goldenโ€Grant, J. Gorski, J. Kussmann, T. McGregor, R. Hamid, Jean P. Pfotenhauer, B. Ballif, C. Shaw, Sung-Hae L. Kang, C. Bacino, Ankita Patel, J. Rosenfeld, S. Cheung, L. Shaffer
5 2012
5
๐Ÿœ
๐Ÿœ Further clinical and molecular delineation of the 15q24 microdeletion syndrome
30 auth. H. Mefford, J. Rosenfeld, Natasha E. Shur, A. Slavotinek, V. Cox, R. Hennekam, H. Firth, L. Willatt, P. Wheeler, E. Morrow, Joseph Cook, Rachel Sullivan, A. Oh, M. McDonald, J. Zonana, ... Kory Keller, M. Hannibal, S. Ball, J. Kussmann, J. Gorski, Susan K Zelewski, V. Banks, Wendy E Smith, Rosemarie Smith, Lindsay Paull, K. Rosenbaum, D. Amor, Joรฃo Silva, A. Lamb, E. Eichler
5 2011
5
๐Ÿœ
๐Ÿœ 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
19 auth. J. Barber, J. Rosenfeld, N. Foulds, Sophie Laird, M. Bateman, N. S. Thomas, Samantha J. Baker, V. Maloney, Arayamparambil C. Anilkumar, Wendy E Smith, ... V. Banks, S. Ellingwood, Yara Kharbutli, L. Mehta, K. Eddleman, M. Marble, Regina M. Zambrano, J. Crolla, A. Lamb
5 2013
5
๐Ÿœ
๐Ÿœ Distinctive phenotype in 9 patients with deletion of chromosome 1q24โ€q25
17 auth. Deepika D'Cunha Burkardt, J. Rosenfeld, Maria L. Helgeson, B. Angle, V. Banks, Wendy E Smith, K. Gripp, Jessica J. Moline, R. Moran, D. Niyazov, ... C. Stevens, E. Zackai, R. Lebel, Douglas G. Ashley, Nancy Kramer, R. Lachman, J. Graham
5 2011
5
๐Ÿœ
๐Ÿœ Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
19 auth. J. Rosenfeld, L. Stephens, J. Coppinger, B. Ballif, J. Hoo, B. French, V. Banks, Wendy E Smith, D. Manchester, A. Tsai, ... K. Merrion, R. Mendoza-Londono, L. Dupuis, R. Schultz, B. Torchia, T. Sahoo, B. Bejjani, D. Weaver, L. Shaffer
4 2011
4
๐Ÿœ
๐Ÿœ Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
36 auth. A. Theisen, J. Rosenfeld, K. Shane, K. McBride, J. Atkin, C. Gaba, J. Hoo, T. Kurczynski, R. Schnur, L.B. Coffey, E. Zackai, L. Schimmenti, N. Friedman, M. Zabukovec, S. Ball, ... R. Pagon, A. Lucas, C. Brasington, J. Spence, S. Sparks, V. Banks, W. Smith, T. Friedberg, P. Wyatt, M. Aust, R. Tervo, A. Crowley, D. Skidmore, A. Lamb, B. Ravnan, T. Sahoo, R. Schultz, B. Torchia, M. Sgrรฒ, D. Chitayat, L. Shaffer
4 2011
4
๐Ÿœ