Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort di Elan Hahn, Avinash V. Dharmadhikari, Alexander L. Markowitz, Dolores Estrine, Catherine Quindipan, Simran D. S. Maggo, Ankit Sharma, Brian Lee, Dennis T. Maglinte, Soheil Shams, Matthew A. Deardorff, Jaclyn A. Biegel, Xiaowu Gai, Miao Sun, Ryan J. Schmidt, Gordana Raca, Jianling Ji

Testo

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features di Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

Testo