Bilaketaren emaitzak - Richholt, Ryan

Age-Modulated Associations between KIBRA, Brain Volume, and Verbal Memory among Healthy Older Adults nork Stickel, Ariana, Kawa, Kevin, Walther, Katrin, Glisky, Elizabeth, Richholt, Ryan, Huentelman, Matt, Ryan, Lee

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Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy nork Kalani, M. Yashar S., Siniard, Ashley L., Corneveaux, Jason J., Bruhns, Ryan, Richholt, Ryan, Forseth, James, Zabramski, Joseph M., Nakaji, Peter, Spetzler, Robert F., Huentelman, Matthew J.

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Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra(®) nork White, Tracey, Szelinger, Szabolcs, LoBello, Janine, King, Amy, Aldrich, Jessica, Garinger, Nathan, Halbert, Matthew, Richholt, Ryan F., Mastrian, Stephen D., Babb, Cody, Ozols, Audrey A., Goodman, Laurie J., Basu, Gargi D., Royce, Thomas

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Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers nork Huentelman, Matthew J., Piras, Ignazio S., Siniard, Ashley L., De Both, Matthew D., Richholt, Ryan F., Balak, Chris D., Jamshidi, Pouya, Bigio, Eileen H., Weintraub, Sandra, Loyer, Emmaleigh T., Mesulam, M.-Marsel, Geula, Changiz, Rogalski, Emily J.

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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome nork Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex nork You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie

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Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects nork Yeri, Ashish, Courtright, Amanda, Reiman, Rebecca, Carlson, Elizabeth, Beecroft, Taylor, Janss, Alex, Siniard, Ashley, Richholt, Ryan, Balak, Chris, Rozowsky, Joel, Kitchen, Robert, Hutchins, Elizabeth, Winarta, Joseph, McCoy, Roger, Anastasi, Matthew, Kim, Seungchan, Huentelman, Matthew, Van Keuren-Jensen, Kendall

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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes nork Hutchins, Elizabeth, Reiman, Rebecca, Winarta, Joseph, Beecroft, Taylor, Richholt, Ryan, De Both, Matt, Shahbander, Khalouk, Carlson, Elizabeth, Janss, Alex, Siniard, Ashley, Balak, Chris, Bruhns, Ryan, Whitsett, Timothy G., McCoy, Roger, Anastasi, Matthew, Allen, April, Churas, Brian, Huentelman, Matthew, Van Keuren-Jensen, Kendall

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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia nork Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle

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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... nork Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle

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Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2 nork Gardner, Heather L., Sivaprakasam, Karthigayini, Briones, Natalia, Zismann, Victoria, Perdigones, Nieves, Drenner, Kevin, Facista, Salvatore, Richholt, Ryan, Liang, Winnie, Aldrich, Jessica, Trent, Jeffrey M., Shields, Peter G., Robinson, Nicholas, Johnson, Jeremy, Lana, Susan, Houghton, Peter, Fenger, Joelle, Lorch, Gwendolen, Janeway, Katherine A., London, Cheryl A., Hendricks, William P. D.

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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 nork Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar

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Transcriptome-wide association study of post-trauma symptom trajectories identified GRIN3B as a potential biomarker for PTSD development nork Lori, Adriana, Schultebraucks, Katharina, Galatzer-Levy, Isaac, Daskalakis, Nikolaos P., Katrinli, Seyma, Smith, Alicia K., Myers, Amanda J., Richholt, Ryan, Huentelman, Matthew, Guffanti, Guia, Wuchty, Stefan, Gould, Felicia, Harvey, Philip D., Nemeroff, Charles B., Jovanovic, Tanja, Gerasimov, Ekaterina S., Maples-Keller, Jessica L., Stevens, Jennifer S., Michopoulos, Vasiliki, Rothbaum, Barbara O., Wingo, Aliza P., Ressler, Kerry J.

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation nork Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy nork Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen

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