Exome sequencing: the expert view

by Biesecker, Leslie G, Shianna, Kevin V, Mullikin, Jim C
Published 2011

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

by Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
Published 2012

Assessing the reproducibility of exome copy number variations predictions

by Hong, Celine S., Singh, Larry N., Mullikin, James C., Biesecker, Leslie G.
Published 2016

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

by Lindhurst, Marjorie J., Yourick, Miranda R., Yu, Yi, Savage, Ronald E., Ferrari, Dora, Biesecker, Leslie G.
Published 2015

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

by Hamlington, Barbara, Ivey, Lauren E., Brenna, Ethan, Biesecker, Leslie G., Biesecker, Barbara B., Sapp, Julie C.
Published 2015

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

by Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G
Published 2011

Essential Role of the m2R-RGS6-IKACh Pathway in Controlling Intrinsic Heart Rate Variability

by Posokhova, Ekaterina, Ng, David, Opel, Aaisha, Masuho, Ikuo, Tinker, Andrew, Biesecker, Leslie G., Wickman, Kevin, Martemyanov, Kirill A.
Published 2013

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

by Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Published 2016

Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology

by Lewis, Katie L., Han, Paul K. J., Hooker, Gillian W., Klein, William M. P., Biesecker, Leslie G., Biesecker, Barbara B.
Published 2015

How do research participants perceive “uncertainty” in genomic sequencing?

by Biesecker, Barbara B, Klein, William, Lewis, Katie L, Fisher, Tyler C, Wright, Martha Frances, Biesecker, Leslie G, Han, Paul K
Published 2014

Acinar Cell Apoptosis in Serpini2-Deficient Mice Models Pancreatic Insufficiency

by Loftus, Stacie K, Cannons, Jennifer L, Incao, Arturo, Pak, Evgenia, Chen, Amy, Zerfas, Patricia M, Bryant, Mark A, Biesecker, Leslie G, Schwartzberg, Pamela L, Pavan, William J
Published 2005

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

by Teer, Jamie K, Johnston, Jennifer J, Anzick, Sarah L, Pineda, Marbin, Stone, Gary, Meltzer, Paul S, Mullikin, James C, Biesecker, Leslie G
Published 2013

Participant use and communication of findings from exome sequencing: A mixed methods study: Use and communication of findings from exome sequencing

by Lewis, Katie L., Hooker, Gillian W., Connors, Philip D., Hyams, Travis C., Wright, Martha F., Caldwell, Samantha, Biesecker, Leslie G., Biesecker, Barbara B.
Published 2015

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

by Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Published 2015

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

by Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Published 2013

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

by Stewart, Douglas R., Pemov, Alexander, Johnston, Jennifer J., Sapp, Julie C., Yeager, Meredith, He, Ji, Boland, Joseph F., Burdett, Laurie, Brown, Christina, Gatti, Richard A., Alter, Blanche P., Biesecker, Leslie G., Savage, Sharon A.
Published 2014

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines

by Sen, Shurjo K, Barb, Jennifer J, Cherukuri, Praveen F, Accame, David S, Elkahloun, Abdel G, Singh, Larry N, Lee-Lin, Shih-Queen, Program, NISC Comparative Sequencing, Kolodgie, Frank D, Cheng, Qi, Zhao, XiaoQing, Chen, Marcus Y, Arai, Andrew E, Green, Eric D, Mullikin, James C, Munson, Peter J, Biesecker, Leslie G
Published 2014

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

by Hunter, Jessica Ezzell, Irving, Stephanie A., Biesecker, Leslie G., Buchanan, Adam, Jensen, Brian, Lee, Kristy, Martin, Christa Lese, Milko, Laura, Muessig, Kristin, Niehaus, Annie D., O'Daniel, Julianne, Piper, Margaret A., Ramos, Erin M., Schully, Sheri D., Scott, Alan F., Slavotinek, Anne, Sobreira, Nara, Strande, Natasha, Weaver, Meredith, Webber, Elizabeth M., Williams, Marc S., Berg, Jonathan S., Evans, James P., Goddard, Katrina A.B.
Published 2016

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

by Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Published 2011

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

by 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
Published 2011