Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome von Carvajal-Vergara, Xonia, Lemischka, Ihor R, Sevilla, Ana, D'Souza, Sunita L, Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D, Adler, Eric D, Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J, Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D, Tartaglia, Marco, Gelb, Bruce D

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Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring von Kolevzon, Alexander, Angarita, Benjamin, Bush, Lauren, Wang, A Ting, Frank, Yitzchak, Yang, Amy, Rapaport, Robert, Saland, Jeffrey, Srivastava, Shubhika, Farrell, Cristina, Edelmann, Lisa J, Buxbaum, Joseph D

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants von Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.

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Robust identification of mosaic variants in congenital heart disease von Manheimer, Kathryn B., Richter, Felix, Edelmann, Lisa J., D’Souza, Sunita L., Shi, Lisong, Shen, Yufeng, Homsy, Jason, Boskovski, Marko T., Tai, Angela C., Gorham, Joshua, Yasso, Christopher, Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Chung, Wendy K., Seidman, Christine E., Seidman, J. G., Gelb, Bruce D.

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Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses von Cai, Xiaoqiang, Arif, Mohammad, Wan, Haolei, Kornreich, Ruth, Edelmann, Lisa J.

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An algorithm to identify patients aged 0-3 with rare genetic disorders von Webb, Bryn D, Lau, Lisa Y, Tsevdos, Despina, Shewcraft, Ryan A, Corrigan, David, Shi, Lisong, Lee, Seungwoo, Tyler, Jonathan, Li, Shilong, Wang, Zichen, Stolovitzky, Gustavo, Edelmann, Lisa, Chen, Rong, Schadt, Eric E, Li, Li

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Dual-color, Break-apart FISH Assay on Paraffin-embedded Tissues as an Adjunct to Diagnosis of Xp11 Translocation Renal Cell Carcinoma and Alveolar Soft Part Sarcoma von MINGHAO ZHONG, DE ANGELO, Patricia, HAMEED, Meera, OSBORNE, Lisa, KEANE-TARCHICHI, Megan, GOLDFISCHER, Michael, EDELMANN, Elisa, YOUFENG YANG, LINEHAN, W. Marston, MERINO, Maria J, AISNER, Seena

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Role of Copy Number Variants in Structural Birth Defects von SOUTHARD, Abigail E, EDELMANN, Lisa J, GELB, Bruce D

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Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion von Reiner, Jennifer, Pisani, Laura, Qiao, Wanqiong, Singh, Ram, Yang, Yao, Shi, Lisong, Khan, Wahab A., Sebra, Robert, Cohen, Ninette, Babu, Arvind, Edelmann, Lisa, Jabs, Ethylin Wang, Scott, Stuart A.

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An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy von Luo, Minjie, Liu, Liu, Peter, Inga, Zhu, Jun, Scott, Stuart A., Zhao, Geping, Eversley, Chevonne, Kornreich, Ruth, Desnick, Robert J., Edelmann, Lisa

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects von Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

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Analytical validation of whole exome and whole genome sequencing for clinical applications von Linderman, Michael D, Brandt, Tracy, Edelmann, Lisa, Jabado, Omar, Kasai, Yumi, Kornreich, Ruth, Mahajan, Milind, Shah, Hardik, Kasarskis, Andrew, Schadt, Eric E

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P467: Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success von Gao, Chuan, McCafferty, Jonathan, Calder, Brent, Meredith, Matthew, Edelmann, Lisa, Zimmerman, Rebekah, Mito, Yoshiko

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Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice von Kolodner, Richard D, Edelmann, Winfried, Wang, Yuxun, Putnam, Christopher D, Kane, Michael F, Zhang, Weijia, Edelmann, Lisa, Russell, Robert, Carrión, Danaise V, Chin, Lynda, Kucherlapati, Raju

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection von Scott, Stuart A., Scott, Erick R., Seki, Yoshinori, Chen, Annette J., Wallsten, Richard, Owusu Obeng, Aniwaa, Botton, Mariana R., Cody, Neal, Shi, Huanzhi, Zhao, Geping, Brake, Paul, Nicoletti, Paola, Yang, Yao, Delio, Maria, Shi, Lisong, Kornreich, Ruth, Schadt, Eric E., Edelmann, Lisa

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P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults von Li, Wenjiao, Stauffer, Brandon, Chen, Hongjie, Xiao, Jing, Phua, Yu Leng, Cody, Neal, Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert, Yu, Chunli

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P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels von Cody, Neal, Phua, Yu Leng, Li, Wenjiao, Nazarenko, Irina, Stauffer, Brandon, Chen, Hongjie, Xiao, Jing, Edelmann, Lisa, Kornreich, Ruth, Yu, Chunli, Desnick, Robert

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Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies von Edelmann, Lisa, Hirschhorn, Kurt

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Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients von Akler, Gidon, Birch, Ashley H., Schreiber‐Agus, Nicole, Cai, Xiaoqiang, Cai, Guiqing, Shi, Lisong, Yu, Chunli, Larmore, Anastasia M., Mendiratta‐Vij, Geetu, Elkhoury, Lama, Dillon, Mitchell W., Zhu, Jun, Mclellan, Andrew S., Suer, Funda E., Webb, Bryn D., Schadt, Eric E., Kornreich, Ruth, Edelmann, Lisa

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Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance von Lee, Beom Hee, Kasparis, Christos, Chen, Brenden, Mei, Hui, Edelmann, Lisa, Moss, Celia, Weaver, David D, Desnick, Robert J

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