Internet-Based Standardized Patient Simulation With Automated Feedback

Bằng Nielson, Jeffrey A., Maloney, Chris, Robison, Reid
Được phát hành 2003

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

Bằng Olsen, John L., Reimherr, Frederick W., Marchant, Barrie K., Wender, Paul H., Robison, Reid J.
Được phát hành 2012

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

Bằng Curtin, Karen, Fleckenstein, Annette E., Robison, Reid J., Crookston, Michael J., Smith, Ken R., Hanson, Glen R.
Xuất bản năm Drug Alcohol Depend (2014)

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

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

KBG syndrome involving a single-nucleotide duplication in ANKRD11

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

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

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

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

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

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

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

SCN8A mutation in a child presenting with seizures and developmental delays

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

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

Bằng 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
Xuất bản năm J Med Genet (2015)

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

Bằng 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
Được phát hành 2011

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

Bằng 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.
Được phát hành 2011

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

Bằng 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.
Được phát hành 2011

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

Bằng 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
Được phát hành 2011

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

Bằng 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.
Xuất bản năm Am J Hum Genet (2015)

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Bằng 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.
Xuất bản năm Am J Hum Genet (2019)

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

Bằng 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
Xuất bản năm Nat Genet (2011)