Search Results - Bedoukian, Emma

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen by Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can

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Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant by Bedoukian, Emma C., Rentas, Stefan, Skraban, Cara, Shao, Qing, Treat, James, Laird, Dale W., Sullivan, Kathleen E.

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The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA by Men, Clara J., Bujakowska, Kinga M., Comander, Jason, Place, Emily, Bedoukian, Emma C., Zhu, Xiaosong, Leroy, Bart P., Fulton, Anne B., Pierce, Eric A.

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Ciliopathies: Coloring outside of the lines by Strong, Alanna, Li, Dong, Mentch, Frank, Bedoukian, Emma, Hartung, Erum A., Meyers, Kevin, Skraban, Cara, Wen, Jessica, Medne, Livija, Glessner, Joseph, Watson, Deborah, Krantz, Ian, Hakonarson, Hakon

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A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy by Aleman, Tomas S, Miller, Alexander J, Maguire, Katherine H, Aleman, Elena M, Serrano, Leona W, O’Connor, Keli B, Bedoukian, Emma C, Leroy, Bart P, Maguire, Albert M, Bennett, Jean

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ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY by Ammar, Michael J., Scavelli, Kurt T., Uyhazi, Katherine E., Bedoukian, Emma C., Serrano, Leona W., Edelstein, Ilaina D., Vergilio, Grace, Cooper, Robert F., Morgan, Jessica I. W., Kumar, Priyanka, Aleman, Tomas S.

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Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations by Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Cosugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pierce, Eric A.

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Clinical Utility of Exome Sequencing in Infantile Heart Failure by Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

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The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK by Cheon, Solmi, Kaur, Kiran, Nijem, Nadine, Tuncay, Islam Oguz, Kumar, Pooja, Dean, Milan, Juusola, Jane, Guillen-Sacoto, Maria J., Bedoukian, Emma, Ierardi-Curto, Lynne, Kaplan, Paige, Schaefer, G. Bradley, Mishra, Prashant, Chahrour, Maria H.

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder by Srivastava, Siddharth, Macke, Erica L., Swanson, Lindsay C., Coulter, David, Klee, Eric W., Mullegama, Sureni V., Xie, Yili, Lanpher, Brendan C., Bedoukian, Emma C., Skraban, Cara M., Villard, Laurent, Milh, Mathieu, Leppert, Mary L. O., Cohen, Julie S.

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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect by McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric

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Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations by Grand, Katheryn, Gonzalez-Gandolfi, Christina, Ackermann, Amanda M., Aljeaid, Deema, Bedoukian, Emma, Bird, Lynne M., De Leon, Diva D., Diaz, Jullianne, Hopkin, Robert J., Kadakia, Sejal P., Keena, Beth, Klein, Karen O., Krantz, Ian, Leon, Eyby, Lord, Katherine, McDougall, Carey, Medne, Livija, Skraban, Cara M., Stanley, Charles A., Tarpinian, Jennifer, Zackai, Elaine, Deardorff, Matthew A., Kalish, Jennifer M.

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HACE1 deficiency leads to structural and functional neurodevelopmental defects by Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K., Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J., Deardorff, Matthew A., Bedoukian, Emma C., Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E. Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J., Penninger, Josef M.

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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 by Grudzinska Pechhacker, Monika K., Jacobson, Samuel G., Drack, Arlene V., Scipio, Matteo Di, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L., Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L., Aleman, Tomas S., Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P., Maynes, Jason T., Munier, Francis L., Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.

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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome by Li, Dong, March, Michael E., Fortugno, Paola, Cox, Liza L., Matsuoka, Leticia S., Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C., Bedoukian, Emma C., Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia R. P., Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P., Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C., Zackai, Elaine H., Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J.

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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations by Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David

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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model by Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick

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Recommendations for the Integration of Genomics into Clinical Practice by Bowdin, Sarah, Gilbert, Adel, Bedoukian, Emma, Carew, Christopher, Adam, Margaret P, Belmont, John, Bernhardt, Barbara, Biesecker, Leslie, Bjornsson, Hans T., Blitzer, Miriam, D’Alessandro, Lisa C. A., Deardorff, Matthew A., Demmer, Laurie, Elliott, Alison, Feldman, Gerald L., Glass, Ian A., Herman, Gail, Hindorff, Lucia, Hisama, Fuki, Hudgins, Louanne, Innes, A. Micheil, Jackson, Laird, Jarvik, Gail, Kim, Raymond, Korf, Bruce, Ledbetter, David H., Li, Mindy, Liston, Eriskay, Marshall, Christian, Medne, Livija, Meyn, M. Stephen, Monfared, Nasim, Morton, Cynthia, Mulvihill, John J., Plon, Sharon E., Rehm, Heidi, Roberts, Amy, Shuman, Cheryl, Spinner, Nancy B., Stavropoulos, D. James, Valverde, Kathleen, Waggoner, Darrel J., Wilkens, Alisha, Cohn, Ronald D., Krantz, Ian D.

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Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants by Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan, Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.

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