Age-Modulated Associations between KIBRA, Brain Volume, and Verbal Memory among Healthy Older Adults

por Stickel, Ariana, Kawa, Kevin, Walther, Katrin, Glisky, Elizabeth, Richholt, Ryan, Huentelman, Matt, Ryan, Lee
Publicado 2018

Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra(®)

por 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
Publicado 2021

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers

por 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.
Publicado 2018

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

por 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.
Publicado 2015

Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects

por 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
Publicado 2017

Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes

por 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
Publicado 2021

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por 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
Publicado 2016

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por 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
Publicado 2017

Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2

por 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.
Publicado 2019

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

por 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
Publicado 2020

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

por Frankel, Eric, Podder, Avijit, Sharifi, Megan, Pillai, Roshan, Belnap, Newell, Ramsey, Keri, Dodson, Julius, Venugopal, Pooja, Brzezinski, Molly, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Sanchez-Castillo, Meredith, Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Naymik, Marcus, Schrauwen, Isabelle, Craig, David W., Piras, Ignazio S., Huentelman, Matthew J., Schork, Nicholas J., Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2023

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

por 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
Publicado 2016