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

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

Next generation sequence analysis for mitochondrial disorders

অনুযায়ী Vasta, Valeria, Ng, Sarah B, Turner, Emily H, Shendure, Jay, Hahn, Si Houn
প্রকাশিত 2009

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

অনুযায়ী Hiatt, Joseph B, Patwardhan, Rupali P, Turner, Emily H, Lee, Choli, Shendure, Jay
প্রকাশিত 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

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

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

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

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

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

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

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

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

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

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

অনুযায়ী 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
প্রকাশিত 2010

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

অনুযায়ী 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.
প্রকাশিত 2014

Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes

অনুযায়ী 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
প্রকাশিত 2009

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

অনুযায়ী 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.
প্রকাশিত 2013

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

অনুযায়ী 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.
প্রকাশিত 2011

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

অনুযায়ী 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.
প্রকাশিত 2013

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

অনুযায়ী 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.
প্রকাশিত 2013

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

অনুযায়ী 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.
প্রকাশিত 2013

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

অনুযায়ী 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.
প্রকাশিত Gastroenterology (2016)

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

অনুযায়ী 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.
প্রকাশিত 2012

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

অনুযায়ী 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
প্রকাশিত 2010

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

অনুযায়ী 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.
প্রকাশিত 2012