Internet-Based Standardized Patient Simulation With Automated Feedback

Autor Nielson, Jeffrey A., Maloney, Chris, Robison, Reid
Vydáno 2003

The Effect of Personality Disorder Symptoms on Response to Treatment With Methylphenidate Transdermal System in Adults With Attention-Deficit/Hyperactivity Disorder

Autor Olsen, John L., Reimherr, Frederick W., Marchant, Barrie K., Wender, Paul H., Robison, Reid J.
Vydáno 2012

Methamphetamine/amphetamine abuse and risk of Parkinson’s disease in Utah: a population-based assessment

Autor Curtin, Karen, Fleckenstein, Annette E., Robison, Reid J., Crookston, Michael J., Smith, Ken R., Hanson, Glen R.
Vydáno v Drug Alcohol Depend (2014)

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Autor Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Vydáno v BMC Med Genomics (2017)

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Autor Kleyner, Robert, Malcolmson, Janet, Tegay, David, Ward, Kenneth, Maughan, Annette, Maughan, Glenn, Nelson, Lesa, Wang, Kai, Robison, Reid, Lyon, Gholson J.
Vydáno v Cold Spring Harb Mol Case Stud (2016)

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders

Autor Cannon, Dale S, Miller, Judith S, Robison, Reid J, Villalobos, Michele E, Wahmhoff, Natalie K, Allen-Brady, Kristina, McMahon, William M, Coon, Hilary
Vydáno 2010

Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees

Autor Coon, Hilary, Villalobos, Michele E, Robison, Reid J, Camp, Nicola J, Cannon, Dale S, Allen-Brady, Kristina, Miller, Judith S, McMahon, William M
Vydáno 2010

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

Autor O’Rawe, Jason A., Fang, Han, Rynearson, Shawn, Robison, Reid, Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J.
Vydáno 2013

SCN8A mutation in a child presenting with seizures and developmental delays

Autor Malcolmson, Janet, Kleyner, Robert, Tegay, David, Adams, Whit, Ward, Kenneth, Coppinger, Justine, Nelson, Lesa, Meisler, Miriam H., Wang, Kai, Robison, Reid, Lyon, Gholson J.
Vydáno v Cold Spring Harb Mol Case Stud (2016)

SeqHBase: a big data toolset for family based sequencing data analysis

Autor He, Min, Person, Thomas N, Hebbring, Scott J, Heinzen, Ethan, Ye, Zhan, Schrodi, Steven J, McPherson, Elizabeth W, Lin, Simon M, Peissig, Peggy L, Brilliant, Murray H, O'Rawe, Jason, Robison, Reid J, Lyon, Gholson J, Wang, Kai
Vydáno v J Med Genet (2015)

Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications

Autor Lyon, Gholson J., Jiang, Tao, Van Wijk, Richard, Wang, Wei, Bodily, Paul Mark, Xing, Jinchuan, Tian, Lifeng, Robison, Reid J., Clement, Mark, Lin, Yang, Zhang, Peng, Liu, Ying, Moore, Barry, Glessner, Joseph T., Elia, Josephine, Reimherr, Fred, van Solinge, Wouter W., Yandell, Mark, Hakonarson, Hakon, Wang, Jun, Johnson, William Evan, Wei, Zhi, Wang, Kai
Vydáno 2011

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Autor Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.
Vydáno 2011

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Autor Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.
Vydáno 2011

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Autor Rope, Alan F, Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J, Swensen, Jeffrey J, Johnson, W Evan, Moore, Barry, Huff, Chad D, Bird, Lynne M, Carey, John C, Opitz, John M, Stevens, Cathy A, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T, Pysher, Theodore J, Jorde, Lynn B, Hakonarson, Hakon, Lillehaug, Johan R, Biesecker, Leslie G, Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J
Vydáno 2011

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Autor O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Vydáno v Am J Hum Genet (2015)

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Autor Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.
Vydáno v Am J Hum Genet (2019)

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Autor Elia, Josephine, Glessner, Joseph T, Wang, Kai, Takahashi, Nagahide, Shtir, Corina J, Hadley, Dexter, Sleiman, Patrick M A, Zhang, Haitao, Kim, Cecilia E, Robison, Reid, Lyon, Gholson J, Flory, James H, Bradfield, Jonathan P, Imielinski, Marcin, Hou, Cuiping, Frackelton, Edward C, Chiavacci, Rosetta M, Sakurai, Takeshi, Rabin, Cara, Middleton, Frank A, Thomas, Kelly A, Garris, Maria, Mentch, Frank, Freitag, Christine M, Steinhausen, Hans-Christoph, Todorov, Alexandre A, Reif, Andreas, Rothenberger, Aribert, Franke, Barbara, Mick, Eric O, Roeyers, Herbert, Buitelaar, Jan, Lesch, Klaus-Peter, Banaschewski, Tobias, Ebstein, Richard P, Mulas, Fernando, Oades, Robert D, Sergeant, Joseph, Sonuga-Barke, Edmund, Renner, Tobias J, Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Walitza, Susanne, Meyer, Jobst, Pálmason, Haukur, Seitz, Christiane, Loo, Sandra K, Smalley, Susan L, Biederman, Joseph, Kent, Lindsey, Asherson, Philip, Anney, Richard J L, Gaynor, J William, Shaw, Philip, Devoto, Marcella, White, Peter S, Grant, Struan F A, Buxbaum, Joseph D, Rapoport, Judith L, Williams, Nigel M, Nelson, Stanley F, Faraone, Stephen V, Hakonarson, Hakon
Vydáno v Nat Genet (2011)