Time-resolved luminescence of electron-hole pairs in cadmium sulfide selenide graded semiconductors von Hane, Jennifer K, Prisant, Michael G, Harris, Charles B, Meyer, Gerald J, Leung, Larry K, Ellis, Arthur B

Volltext

Maleylacetoacetate cis-trans isomerase: One-step double cis-trans isomerization of monomethyl muconate and the enzyme's probable role in benzene metabolism von Seltzer, Stanley, Hane, Jennifer

Volltext

The Montana ALE (Autonomous Lunar Excavator) Systems Engineering Report von Osborne, Lars, Love, Kevin, Benson, Daniel, Higgins, Bethany, Grub, Garth, Warberg, Logan, Figueira, Allison, Baernardinelli, Seth, Hane, Jennifer

Volltext bestellen

Time-resolved luminescence of electron-hole pairs in CdSXSe1-x graded semiconductors von HANE, J. K, PRISANT, M. G, HARRIS, C. B, MEYER, G. J, LEUNG, L. K, ELLIS, A. B

Volltext

In vivo detection of cucurbit[6]uril, a hyperpolarized xenon contrast agent for a xenon magnetic resonance imaging biosensor von Hane, Francis T., Li, Tao, Smylie, Peter, Pellizzari, Raiili M., Plata, Jennifer A., DeBoef, Brenton, Albert, Mitchell S.

Volltext

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

Volltext

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay von Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D

Volltext

Evaluation of Secretion Prediction Highlights Differing Approaches Needed for Oomycete and Fungal Effectors von Sperschneider, Jana, Williams, Angela H, Hane, James K, Singh, Karam B, Taylor, Jennifer M

Volltext

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease von Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A

Volltext

Health care costs associated with unrecognized progression to late-stage kidney disease von Spencer, Donna, Dunning, Stephan, McPheeters, Jeff, St Clair Russell, Jennifer, Hane, Christopher

Volltext

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts von Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.

Volltext

Inhaled Xenon Washout as a Biomarker of Alzheimer's Disease von Hane, Francis T, Li, Tao, Plata, Jennifer-Anne, Hassan, Ayman, Granberg, Karl, Albert, Mitchell S

Volltext

A comparative hidden Markov model analysis pipeline identifies proteins characteristic of cereal-infecting fungi von Sperschneider, Jana, Gardiner, Donald M, Taylor, Jennifer M, Hane, James K, Singh, Karam B, Manners, John M

Volltext

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research von Wangler, Michael F, Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E, Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M, Campeau, Philippe M, Bellen, Hugo J

Volltext

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals von Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Quinonez, Shane C., Regan, Brigid M., Ross, M. Elizabeth, Guillen Sacoto, Maria J., Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F., Rosenfeld, Jill A., Edmondson, Andrew C., Grunewald, Stephanie, Freeze, Hudson H.

Volltext

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome von Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.

Volltext

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-gamma Therapy von Merselis, Leidy C., Jiang, Shirley Y., Nelson, Stanley F., Lee, Hane, Prabaker, Kavitha K., Baker, Jennifer L., Munson, George P., Butte, Manish J.

Volltext

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay von Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong-hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Orellana, Carmen, Monfort, Sandra, Roscioli, Tony, Jones, Wendy D., Sebastian, Jessica, Sonal, Desai, Sakkubai, Naidu, Faivre, Laurence, Krantz, Ian D., Adams, David R., Alejandro, Mercedes E., Azamian, Mahshid S., Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Chen, Shan, Coakley, Terra R., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Eskin, Ascia, Friedman, Noah D., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gropman, Andrea L., Hom, Jason, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Kohane, Isaac S., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Pena, Loren D.M., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Rosenfeld, Jill A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Sinsheimer, Janet S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Wahl, Colleen E., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Campeau, Philippe M.

Volltext

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease von Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.

Volltext

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder von Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.

Volltext