De novo missense variants in FBXO11 alter its protein expression and subcellular localization by Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane

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P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes by Tung, Moon Ley, Chandra, Bharatendu, Nagy, Jaime, El-Shanti, Hatem, Bernat, John, Safina, Nicole, Calhoun, Amy, Younger, Georgianne, Dillahunt, Kyle, Paulson, Anna, Warner, Taylor, Bombei, Hannah, Kotlarek, Jaclyn

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Molecular characterization of the calcium release channel deficiency syndrome by Tester, David J, Kim, C S John, Hamrick, Samantha K, Ye, Dan, O'Hare, Bailey J, Bombei, Hannah M, Fitzgerald, Kristi K, Haglund-Turnquist, Carla M, Atkins, Dianne L, Nunez, Luis A Ochoa, Law, Ian, Temple, Joel, Ackerman, Michael J

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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome by 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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Genotype–phenotype correlation at codon 1740 of SETD2 by Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadijé, Jacquemont, Sebastien, Bélanger, Stacey A., Löhner, Katharina, Veenstra‐Knol, Hermine E., Lemmink, Henny H., Keller‐Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John

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Cover Image, Volume 176A, Number 4, April 2018 by 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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Abstract 12295: Characterization of a Novel Homozygous Multi-exon Ryr2 Duplication Associated With Exertion-related Sudden Unexplained Death in the Young in the Amish Community Usi... by Tester, David J, Kim, CS John, Hamrick, Samantha K, Bombei, Hannah M, Fitzgerald, Kristi K, Haglund-Turnquist, Carla M, Atkins, Dianne L, Ochoa, Luis A, Law, Ian H, Temple, Joel, Ackerman, Michael J

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Abstract 12260: Whole Exome Molecular Autopsy With Copy Number Variant Analysis of Multiple Autopsy Negative Sudden Unexplained Deaths Among Amish Siblings Yields the Discovery of... by Tester, David J, Bombei, Hannah M, Fitzgerald, Kristi K, Giudicessi, John, Pitel, Beth A, Thorland, Erik C, Russell, Barbara, Hamrick, Samantha K, Kim, CS John, Haglund-Turnquist, Carla M, Johnsrude, Christopher, Atkins, Dianne L, Ochoa, Luis A, Law, Ian H, Temple, Joel, Ackerman, Michael J

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