Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome von Barañano, Kristin W., Kimball, Amy, Fong, Susan L., Egense, Alena S., Hudon, Catherine, Kline, Antonie D.

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Prader-Willi and Angelman Syndromes: Mechanisms and Management von Ma, Van K, Mao, Rong, Toth, Jessica N, Fulmer, Makenzie L, Egense, Alena S, Shankar, Suma P

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eP131 - Case report of oldest described adult with SETD2 variant: an intersection of SETD2 gene neurodevelopmental and tumor suppression roles von Egense, Alena, Rauen, Katherine

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Case report of oldest described adult with SETD2 variant: an intersection of SETD2 gene neurodevelopmental and tumor suppression roles von Egense, Alena, Rauen, Katherine

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P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma von Egense, Alena, Do, Timothy, Herman, Kristin, Brandt, James, Shankar, Suma

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Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p. G464R pathogenic variant and review of the literature von Rauen, Katherine A., Maeda, Yoshiko, Egense, Alena, Tidyman, William E.

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eP103: Speech development gene pathways: Would genome sequencing in nonverbal individuals provide a link? von Cole, Stacey, Egense, Alena, Suzuki, Ayaka, Martin, Madelena, DeFilippo, Colette, Rauen, Katherine, Shankar, Suma

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Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature von Rauen, Katherine A., Maeda, Yoshiko, Egense, Alena, Tidyman, William E.

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Retinal dystrophies: A look beyond the eyes von Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P.

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Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism von Punatar, Ruchi, Egense, Alena, Mao, Rong, Procter, Melinda, Bosworth, Michelle, Quigley, Denise I., Angkustsiri, Kathleen, Shankar, Suma P.

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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants von Furia, Francesca, Levy, Amanda M, Theunis, Miel, Bamshad, Michael J, Bartos, Meghan N, Bijlsma, Emilia K, Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X, De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J, Hueffmeier, Ulrike, Legius, Eric, Mancini, Grazia M.S, Marcos-Alcalde, Inigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros-Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J, Tao, Alice M, Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M, Barakat, Tahsin Stefan, Moller, Rikke S, Gomez-Puertas, Paulino, Chung, Wendy K, Gardella, Elena, Tuemer, Zeynep

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Genetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings von Leppert, Kristen, Bisordi, Katharine, Nieto, Jessica, Maloney, Kristin, Guan, Yue, Dixon, Shannan, Egense, Alena

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The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants von Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros‐Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J., Tao, Alice M., Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M., Barakat, Tahsin Stefan, Møller, Rikke S., Gomez‐Puertas, Paulino, Chung, Wendy K., Gardella, Elena, Tümer, Zeynep

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder von Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A.

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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome von Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

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Tubulointerstitial nephritis and uveitis (TINU) with granulomatosis: a novel report of simultaneous TINU and sarcoidosis in a pediatric patient von Dawson, Valerie J., Dao, David, Leu, Melanie, Egense, Alena, Jinadu, Laide, Malone, Laura, Alexander, Janet

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Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016 von Kline, Antonie D., Krantz, Ian D., Deardorff, Matthew A., Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L., Wu, Meng, Mehta, Devanshi, Mills, Jason A., Carrico, Cheri S., Noon, Sarah, Herrera, Pamela S., Horsfield, Julia A., Bettale, Chiara, Morgan, Jeremy, Huisman, Sylvia A., Moss, Jo, McCleery, Joseph, Grados, Marco, Hansen, Blake D., Srivastava, Siddharth, Taylor‐Snell, Emily, Kerr, Lynne M., Katz, Olivia, Calof, Anne L., Musio, Antonio, Egense, Alena, Haaland, Richard E.

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Cover Image, Volume 176A, Number 4, April 2018 von Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

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Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium von Kline, Antonie D., Calof, Anne L., Lander, Arthur D., Gerton, Jennifer L., Krantz, Ian D., Dorsett, Dale, Deardorff, Matthew A., Blagowidow, Natalie, Yokomori, Kyoko, Shirahige, Katsuhiko, Santos, Rosaysela, Woodman, Julie, Megee, Paul C., O'Connor, Julia T., Egense, Alena, Noon, Sarah, Belote, Maurice, Goodban, Marjorie T., Hansen, Blake D., Timmons, Jenni Glad, Musio, Antonio, Ishman, Stacey L., Bryan, Yvon, Wu, Yaning, Bettini, Laura R., Mehta, Devanshi, Zakari, Musinu, Mills, Jason A., Srivastava, Siddharth, Haaland, Richard E.

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Retinal dystrophies: A look beyond the eyes von Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P

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