Massively parallel exon capture and library-free resequencing across 16 individuals

by Turner, Emily H., Lee, Choli, Ng, Sarah B., Nickerson, Deborah A., Shendure, Jay
Published 2009

Next generation sequence analysis for mitochondrial disorders

by Vasta, Valeria, Ng, Sarah B, Turner, Emily H, Shendure, Jay, Hahn, Si Houn
Published 2009

Parallel, tag-directed assembly of locally derived short sequence reads

by Hiatt, Joseph B, Patwardhan, Rupali P, Turner, Emily H, Lee, Choli, Shendure, Jay
Published 2010

Reaction of fluorogenic reagents with proteins I. Mass spectrometric characterization of the reaction with 3-(2-furoyl)quinoline-2-carboxaldehyde, Chromeo P465, and Chromeo P503

by Wojcik, Roza, Swearingen, Kristian E., Dickerson, Jane A., Turner, Emily H., Ramsay, Lauren M., Dovichi, Norman J.
Published 2008

Reaction of fluorogenic reagents with proteins III. Spectroscopic and electrophoretic behavior of proteins labeled with Chromeo P503

by Turner, Emily H., Dickerson, Jane A., Ramsay, Lauren M., Swearingen, Kristian E., Wojcik, Roza, Dovichi, Norman J.
Published 2008

Reaction of fluorogenic reagents with proteins: II. Capillary electrophoresis and laser-induced fluorescence properties of proteins labeled with Chromeo P465

by Swearingen, Kristian E., Dickerson, Jane A., Turner, Emily H., Ramsay, Lauren M., Wojcik, Roza, Dovichi, Norman J.
Published 2008

“Mandibulofacial Dysostosis with Microcephaly” Caused by EFTUD2 Mutations: Expanding the Phenotype

by Luquetti, Daniela V, Hing, Anne V, Rieder, Mark J, Nickerson, Deborah A, Turner, Emily H, Smith, Joshua, Park, Sarah, Cunningham, Michael L
Published 2012

Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization

by Igartua, Catherine, Turner, Emily H., Ng, Sarah B., Hodges, Emily, Hannon, Gregory J., Bhattacharjee, Arindam, Rieder, Mark J., Nickerson, Deborah A., Shendure, Jay
Published 2010

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

by Adey, Andrew, Morrison, Hilary G, Asan, Xun, Xu, Kitzman, Jacob O, Turner, Emily H, Stackhouse, Bethany, MacKenzie, Alexandra P, Caruccio, Nicholas C, Zhang, Xiuqing, Shendure, Jay
Published 2010

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

by Losfeld, Marie Estelle, Ng, Bobby G., Kircher, Martin, Buckingham, Kati J., Turner, Emily H., Eroshkin, Alexey, Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Freeze, Hudson H.
Published 2014

Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes

by Ng, Sarah B., Turner, Emily H., Robertson, Peggy D., Flygare, Steven D., Bigham, Abigail W., Lee, Choli, Shaffer, Tristan, Wong, Michelle, Bhattacharjee, Arindam, Eichler, Evan E., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay
Published 2009

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

by Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Published 2013

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

by Ventura, Mario, Catacchio, Claudia R., Alkan, Can, Marques-Bonet, Tomas, Sajjadian, Saba, Graves, Tina A., Hormozdiari, Fereydoun, Navarro, Arcadi, Malig, Maika, Baker, Carl, Lee, Choli, Turner, Emily H., Chen, Lin, Kidd, Jeffrey M., Archidiacono, Nicoletta, Shendure, Jay, Wilson, Richard K., Eichler, Evan E.
Published 2011

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

by Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Published 2013

The million mutation project: A new approach to genetics in Caenorhabditis elegans

by Thompson, Owen, Edgley, Mark, Strasbourger, Pnina, Flibotte, Stephane, Ewing, Brent, Adair, Ryan, Au, Vinci, Chaudhry, Iasha, Fernando, Lisa, Hutter, Harald, Kieffer, Armelle, Lau, Joanne, Lee, Norris, Miller, Angela, Raymant, Greta, Shen, Bin, Shendure, Jay, Taylor, Jon, Turner, Emily H., Hillier, LaDeana W., Moerman, Donald G., Waterston, Robert H.
Published 2013

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

by Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published 2013

Frequent PIK3CA Mutations in Colorectal and Endometrial Cancer with Double Somatic Mismatch Repair Mutations

by Cohen, Stacey A., Turner, Emily H., Beightol, Mallory B., Jacobson, Angela, Gooley, Ted A., Salipante, Stephen J., Haraldsdottir, Sigurdis, Smith, Christina, Scroggins, Sheena, Tait, Jonathan F., Grady, William M., Lin, Edward H., Cohn, David E., Goodfellow, Paul J., Arnold, Mark W., de la Chapelle, Albert, Pearlman, Rachel, Hampel, Heather, Pritchard, Colin C.
Published in Gastroenterology (2016)

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

by Horani, Amjad, Druley, Todd E., Zariwala, Maimoona A., Patel, Anand C., Levinson, Benjamin T., Van Arendonk, Laura G., Thornton, Katherine C., Giacalone, Joe C., Albee, Alison J., Wilson, Kate S., Turner, Emily H., Nickerson, Deborah A., Shendure, Jay, Bayly, Philip V., Leigh, Margaret W., Knowles, Michael R., Brody, Steven L., Dutcher, Susan K., Ferkol, Thomas W.
Published 2012

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

by Ng, Sarah B., Bigham, Abigail W., Buckingham, Kati J., Hannibal, Mark C., McMillin, Margaret, Gildersleeve, Heidi, Beck, Anita E., Tabor, Holly K., Cooper, Greg M., Mefford, Heather C., Lee, Choli, Turner, Emily H., Smith, Josh D., Rieder, Mark J., Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Published 2010

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

by O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Nik, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Benjamin, Malig, Maika, Baker, Carl, Reilly, Beau, Akey, Joshua M., Borenstein, Elhanan, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Shendure, Jay, Eichler, Evan E.
Published 2012