Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy von Helbig, Katherine L., Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Powis, Zöe, Li, Shuwei, Tang, Sha, Helbig, Ingo

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Mouse screen reveals multiple new genes underlying mouse and human hearing loss von Ingham, Neil J, Pearson, Selina A, Vancollie, Valerie E, Rook, Victoria, Lewis, Morag A, Chen, Jing, Buniello, Annalisa, Martelletti, Elisa, Preite, Lorenzo, Lam, Chi Chung, Weiss, Felix D, Powis, Zӧe, Suwannarat, Pim, Lelliott, Christopher J, Dawson, Sally J, White, Jacqueline K, Steel, Karen P

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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions von Farwell, Kelly D., Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Tippin Davis, Brigette, Baxter, Ruth M., Zeng, Wenqi, Mroske, Cameron, Parra, Melissa C., Gandomi, Stephanie K., Lu, Ira, Li, Xiang, Lu, Hong, Lu, Hsiao-Mei, Salvador, David, Ruble, David, Lao, Monica, Fischbach, Soren, Wen, Jennifer, Lee, Shela, Elliott, Aaron, Dunlop, Charles L.M., Tang, Sha

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Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases von Powis, Zöe, Lutz, Jonathon, Liaquat, Khalida, Querubin, Jyes A, Batish, Sat Dev

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Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders von Rossi, Mari, El-Khechen, Dima, Black, Mary Helen, Hagman, Kelly Farwell, Tang, Sha, Powis, Zoe

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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies von Alamillo, Christina L., Powis, Zöe, Farwell, Kelly, Shahmirzadi, Layla, Weltmer, Elaine C., Turocy, John, Lowe, Thomas, Kobelka, Christine, Chen, Emily, Basel, Donald, Ashkinadze, Elena, D'Augelli, Lisa, Chao, Elizabeth, Tang, Sha

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Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications von Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.

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Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation von Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder von Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood von Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1... von Powis, Zöe, Hart, Alexa, Cherny, Sara, Petrik, Igor, Palmaer, Erika, Tang, Sha, Jones, Carolyn

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis von Powis, Zöe, Farwell Hagman, Kelly D, Speare, Virginia, Cain, Taylor, Blanco, Kirsten, Mowlavi, Layla S, Mayerhofer, Emily M, Tilstra, David, Vedder, Timothy, Hunter, Jesse M, Tsang, Marilyn, Gonzalez, Lina, Vockley, Gerald, Tang, Sha

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Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions von Powis, Zöe, Towne, Meghan C., Hagman, Kelly D.F., Blanco, Kirsten, Palmaer, Erika, Castro, Andrew, Sajan, Samin A., Radtke, Kelly, Feyma, Timothy J., Juliette, Kali, Tang, Sha, Sidiropoulos, Christos

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P271: Beyond SMN1: Review of genotype-phenotype correlation in individuals with ≥4 SMN2 copy numbers von Powis, Zoe, Nashawaty, Meagan, Paal, Andrea, Liaquat, Khalida

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P531: The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory von Owens, Kailey, Lutz, Jonathon, Powis, Zoe

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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies von Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

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De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism von Fan, Yanjie, Yin, Wu, Hu, Bing, Kline, Antonie D., Zhang, Victor Wei, Liang, Desheng, Sun, Yu, Wang, Lili, Tang, Sha, Powis, Zöe, Li, Lei, Yan, Huifang, Shi, Zhen, Yang, Xiaoping, Chen, Yinyin, Wang, Jingmin, Jiang, Yuwu, Tan, Hu, Gu, Xuefan, Wu, Lingqian, Yu, Yongguo

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MAGEL2‐related disorders: A study and case series von Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.

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Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation von Gund, Christian, Powis, Zöe, Alcaraz, Wendy, Desai, Sonal, Baranano, Kristin

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases von Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

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