P165: Challenges and errors in selecting the most appropriate clinical genetic testing* by Nora Urraca, Eniko Pivnick, Roya Mostafavi

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P167: Atypical Sotos syndrome with normal length and late hyperinsulinemic hypoglycemia presentation by Megan Fonville, Eniko Pivnick, Nora Urraca, Stephen Miller

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P131: Skeletal dysplasia due to a known variant of the MAP3K7 gene with unique findings in a newborn by Emma Bradley, Nora Urraca, Stephen Miller, Eniko Pivnick

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P275: Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: Clinical considerations for neonatal care and genetic counseling by Roya Mostafavi, Nora Urraca, Stephen Miller, Ajay Talati, Eniko Pivnick

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A rare inherited 15q11.2-q13.1 interstitial duplication with maternal somatic mosaicism, renal carcinoma and autism by Nora Urraca, Nora Urraca, Brian Potter, Brian Potter, Rachel Hundley, Eniko Pivnick, Eniko Pivnick, Kathryn McVicar, Ronald Thibert, Chistopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois, Stormy J. Chamberlain, Lawrence T. Reiter, Lawrence T. Reiter

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Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders by Nora Urraca, Rawaha Memon, Ikbale El-Iyachi, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Reese Scroggs, Gustavo A. Miranda-Carboni, Martin Donaldson, Dave Bridges, Lawrence T. Reiter

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O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients* by Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault

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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

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