Search Results - "Ward, D Isum"

U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy by Kittock, Claire M., Saifeddine, Mohamad, Straight, Lisa, Ward, D. Isum

“…Variants in the RNA binding protein (RBP) U2AF2 are hypothesized to cause a novel neurodevelopmental disorder. Here, we report a patient with a de novo…”
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay by Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.

“…CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report…”
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RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome by Bandi, Venkateshwarlu, Rennie, Martin, Koch, Intisar, Gill, Polly, Pacheco, Oscar D., Berg, Aaron D., Cui, Hong, Ward, D. Isum, Bustos, Francisco

“…Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive disorder with devastating consequences for patients, such as intellectual disability,…”
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Diamond-Blackfan Anemia: A Case Report and Review of the Literature by Dorn, Kaitlyn M, Burns, Kaitlyn D, Trout, Maija A R, Ward, D Isum, Wagner, KayeLyn J, Meyer, Lauritz R, Baack, Michelle L, Rodel, Rachel L

“…We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have…”
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane

“…An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine…”
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226. Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort by Lori, Adriana, Sobreira, Nara, Ward Ward, Isum D, Almli, Lynn M., Powers, Abigail, Michopolous, Vasiliki, Kerley, Kimberly, Wingo, Aliza, Bradley, Bekh, Boehm, Corinne, Jovanovic, Tanja, Ressler, Kerry

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Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort by Lori, Adriana, Sobreira, Nara, Ward Ward, Isum D, Almli, Lynn M, Powers, Abigail, Michopolous, Vasiliki, Kerley, Kimberly, Wingo, Aliza, Bradley, Bekh, Boehm, Corinne, Jovanovic, Tanja, Ressler, Kerry

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U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy by Kittock, Claire M, Saifeddine, Mohamad, Straight, Lisa, Ward, D Isum

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