Internet-Based Standardized Patient Simulation With Automated Feedback

بواسطة Nielson, Jeffrey A., Maloney, Chris, Robison, Reid
منشور في 2003

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

بواسطة Olsen, John L., Reimherr, Frederick W., Marchant, Barrie K., Wender, Paul H., Robison, Reid J.
منشور في 2012

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

بواسطة Curtin, Karen, Fleckenstein, Annette E., Robison, Reid J., Crookston, Michael J., Smith, Ken R., Hanson, Glen R.
الحاوية / القاعدة Drug Alcohol Depend (2014)

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

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

KBG syndrome involving a single-nucleotide duplication in ANKRD11

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

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

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

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

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

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

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

SCN8A mutation in a child presenting with seizures and developmental delays

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

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

بواسطة 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
الحاوية / القاعدة J Med Genet (2015)

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

بواسطة 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
منشور في 2011

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

بواسطة 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.
منشور في 2011

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

بواسطة 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.
منشور في 2011

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

بواسطة 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
منشور في 2011

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

بواسطة 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.
الحاوية / القاعدة Am J Hum Genet (2015)

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

بواسطة 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.
الحاوية / القاعدة Am J Hum Genet (2019)

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

بواسطة 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
الحاوية / القاعدة Nat Genet (2011)