Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74 by Mardy, Anne H., Hodoglugil, Ugur, Yip, Tiffany, Slavotinek, Anne M.

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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population by Mavura, Yusuph, Sahin-Hodoglugil, Nuriye, Hodoglugil, Ugur, Kvale, Mark, Martin, Pierre-Marie, Van Ziffle, Jessica, Devine, W. Patrick, Ackerman, Sara L., Koenig, Barbara A., Kwok, Pui-Yan, Norton, Mary E., Slavotinek, Anne, Risch, Neil

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Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Me... by Bonnefond, Amélie, Lomberk, Gwen, Buttar, Navtej, Busiah, Kanetee, Vaillant, Emmanuel, Lobbens, Stéphane, Yengo, Loïc, Dechaume, Aurélie, Mignot, Brigitte, Simon, Albane, Scharfmann, Raphaël, Neve, Bernadette, Tanyolaç, Sinan, Hodoglugil, Ugur, Pattou, François, Cavé, Hélène, Iovanna, Juan, Stein, Roland, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe, Urrutia, Raul

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O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort by Sparks, Teresa, Lianoglou, Billie, Sahin-Holodlugil, Nuriye, Kvale, Mark, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Koenig, Barbara, Kwok, Pui-Yan, Ackerman, Sara, Slavotinek, Anne, Risch, Neil, Norton, Mary

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P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition by Pinard, Amelie, Chua, Anthony, Hodoglugil, Ugur, Martin, Pierre-Marie, Mak, Julie, Blanco, Amie, Sabbadini, Marta, Rajkovic, Aleksandar, Devine, W. Patrick, Van Ziffle, Jessica

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O40: Clinical utility of prenatal exome sequencing in a diverse cohort by Norton, Mary, Lianoglou, Billie, Shear, Matthew, Ackerman, Sara, Sahin-Holodlugil, Nuriye, Kvale, Mark, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Koenig, Barbara, Risch, Neil, Kwok, Pui-Yan, Slavotinek, Anne, Sparks, Teresa

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Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Tur... by Hodoğlugil, Uğur, Williamson, David W., Huang, Yadong, Mahley, Robert W.

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Apolipoprotein A-V: a potential modulator of plasma triglyceride levels in Turks by Hodoglugil, Ugur, Tanyolac, Sinan, Williamson, David W, Huang, Yadong, Mahley, Robert W

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Postnatal phenotyping after negative prenatal exome sequencing for fetal anomalies by Swanson, Kate, Hodoglugil, Ugur, Sparks, Teresa N., Lianoglou, Billie R., Norton, Mary E.

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The Simons Genome Diversity Project: 300 genomes from 142 diverse populations by Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P., Song, Yun S., Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R., Behar, Doron M., Bravi, Claudio M., Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L., Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M. Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M., Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B., Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M., Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph T. S., Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael F., Kivisild, Toomas, Klitz, William, Winkler, Cheryl A., Labuda, Damian, Bamshad, Michael, Jorde, Lynn B., Tishkoff, Sarah A., Watkins, W. Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, Reich, David

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Resolution of hydrops fetalis: When does it occur? by Sparks, Teresa N., Lianoglou, Billie R., Hodoglugil, Nuriye Sahin, Swanson, Kate, Downum, Sarah L., Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Norton, Mary E.

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Deep phenotyping expands our knowledge of fetal manifestations of genetic disease by Sparks, Teresa N., Lianoglou, Billie R., Hodoglugil, Nuriye Sahin, Swanson, Kate, Downum, Sarah L., Slavotinek, Anne, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Norton, Mary E.

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Prenatal phenotyping for non-immune hydrops and other abnormal fluid collections by Sparks, Teresa N., Lianoglou, Billie R., Downum, Sarah L., Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Norton, Mary E.

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Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis by Norton, Mary E., Ziffle, Jessica Van, Lianoglou, Billie R., Hodoglugil, Ugur, Devine, W. Patrick, Sparks, Teresa N.

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Exome sequencing versus targeted gene panels for the evaluation of nonimmune hydrops fetalis by NORTON, Mary E., VAN ZIFFLE, Jessica, LIANOGLOU, Billie R., HODOGLUGIL, Ugur, DEVINE, W. Patrick, SPARKS, Teresa N.

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Predicting genes from phenotypes using Human Phenotype Ontology (HPO) terms by Slavotinek, Anne, Prasad, Hannah, Hoban, Hannah, Yip, Tiffany, Rego, Shannon, Martin, Pierre-Marie, Van Ziffle, Jessica, Devine, Patrick, Hodoglugil, Ugur

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eP233 - Predicting genes from phenotypes using Human Phenotype Ontology (HPO) terms by Slavotinek, Anne, Prasad, Hannah, Hoban, Hannah, Yip, Tiffany, Rego, Shannon, Martin, Pierre-Marie, Van Ziffle, Jessica, Devine, Patrick, Hodoglugil, Ugur

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TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy by Penon‐Portmann, Monica, Hodoglugil, Ugur, Arun P, Wiita, Yip, Tiffany, Slavotinek, Anne, Tenney, Jessica L.

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The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing by Swanson, Kate, Norton, Mary E., Lianoglou, Billie R., Jelin, Angie C., Hodoglugil, Ugur, Ziffle, Jessica, Devine, Patrick, Sparks, Teresa N.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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