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305 results on '"Smith, S.C."'

1. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

Author

Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, and Ennis, Sarah

Published
2024
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2. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Author

Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine, Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin, Sinsheimer, Janet, Sisco, Kathy, Smith, Edward, Smith, Kevin, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca, Stergachis, Andrew, Stoler, Joan, Sullivan, Kathleen, Sullivan, Jennifer, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Niggl, Eva, Bouman, Arjan, Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, and van Esbroeck, Annelot C.M.

Published
2023
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3. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

Author

Seaby, Eleanor G., primary, Leggatt, Gary, additional, Cheng, Guo, additional, Thomas, N. Simon, additional, Ashton, James J., additional, Stafford, Imogen, additional, Baralle, Diana, additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Ennis, Sarah, additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, and Zarowiecki, M., additional

Published
2024
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4. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author

Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.

Published
2021
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5. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Author

Niggl, Eva, primary, Bouman, Arjan, additional, Briere, Lauren C., additional, Hoogenboezem, Remco M., additional, Wallaard, Ilse, additional, Park, Joohyun, additional, Admard, Jakob, additional, Wilke, Martina, additional, Harris-Mostert, Emilio D.R.O., additional, Elgersma, Minetta, additional, Bain, Jennifer, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Benke, Paul J., additional, Bertrand, Miriam, additional, Blesson, Alyssa E., additional, Clayton-Smith, Jill, additional, Ellingford, Jamie M., additional, Gillentine, Madelyn A., additional, Goodloe, Dana H., additional, Haack, Tobias B., additional, Jain, Mahim, additional, Krantz, Ian, additional, Luu, Sharon M., additional, McPheron, Molly, additional, Muss, Candace L., additional, Raible, Sarah E., additional, Robin, Nathaniel H., additional, Spiller, Michael, additional, Starling, Susan, additional, Sweetser, David A., additional, Thiffault, Isabelle, additional, Vetrini, Francesco, additional, Witt, Dennis, additional, Woods, Emily, additional, Zhou, Dihong, additional, Elgersma, Ype, additional, van Esbroeck, Annelot C.M., additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennet, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe, additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin, additional, Sinsheimer, Janet, additional, Sisco, Kathy, additional, Smith, Edward, additional, Smith, Kevin, additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca, additional, Stergachis, Andrew, additional, Stoler, Joan, additional, Sullivan, Kathleen, additional, Sullivan, Jennifer, additional, Sutton, Shirley, additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L., additional, Tarakad, Arjun, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia, additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2023
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6. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Author

Jackson, Adam, primary, Lin, Sheng-Jia, additional, Jones, Elizabeth A., additional, Chandler, Kate E., additional, Orr, David, additional, Moss, Celia, additional, Haider, Zahra, additional, Ryan, Gavin, additional, Holden, Simon, additional, Harrison, Mike, additional, Burrows, Nigel, additional, Jones, Wendy D., additional, Loveless, Mary, additional, Petree, Cassidy, additional, Stewart, Helen, additional, Low, Karen, additional, Donnelly, Deirdre, additional, Lovell, Simon, additional, Drosou, Konstantina, additional, Varshney, Gaurav K., additional, Banka, Siddharth, additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Riess, Olaf, additional, Haack, Tobias B., additional, Graessner, Holm, additional, Zurek, Birte, additional, Ellwanger, Kornelia, additional, Ossowski, Stephan, additional, Demidov, German, additional, Sturm, Marc, additional, Schulze-Hentrich, Julia M., additional, Schüle, Rebecca, additional, Kessler, Christoph, additional, Wayand, Melanie, additional, Synofzik, Matthis, additional, Wilke, Carlo, additional, Traschütz, Andreas, additional, Schöls, Ludger, additional, Hengel, Holger, additional, Heutink, Peter, additional, Brunner, Han, additional, Scheffer, Hans, additional, Hoogerbrugge, Nicoline, additional, Hoischen, Alexander, additional, ’t Hoen, Peter A.C., additional, Vissers, Lisenka E.L.M., additional, Gilissen, Christian, additional, Steyaert, Wouter, additional, Sablauskas, Karolis, additional, de Voer, Richarda M., additional, Kamsteeg, Erik-Jan, additional, van de Warrenburg, Bart, additional, van Os, Nienke, additional, Paske, Iris te, additional, Janssen, Erik, additional, de Boer, Elke, additional, Steehouwer, Marloes, additional, Yaldiz, Burcu, additional, Kleefstra, Tjitske, additional, Brookes, Anthony J., additional, Veal, Colin, additional, Gibson, Spencer, additional, Wadsley, Marc, additional, Mehtarizadeh, Mehdi, additional, Riaz, Umar, additional, Warren, Greg, additional, Dizjikan, Farid Yavari, additional, Shorter, Thomas, additional, Töpf, Ana, additional, Straub, Volker, additional, Bettolo, Chiara Marini, additional, Specht, Sabine, additional, Clayton-Smith, Jill, additional, Alexander, Elizabeth, additional, Jackson, Adam, additional, Faivre, Laurence, additional, Thauvin, Christel, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Duffourd, Yannis, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Peyron, Christine, additional, Pélissier, Aurore, additional, Beltran, Sergi, additional, Gut, Ivo Glynne, additional, Laurie, Steven, additional, Piscia, Davide, additional, Matalonga, Leslie, additional, Papakonstantinou, Anastasios, additional, Bullich, Gemma, additional, Corvo, Alberto, additional, Garcia, Carles, additional, Fernandez-Callejo, Marcos, additional, Hernández, Carles, additional, Picó, Daniel, additional, Paramonov, Ida, additional, Lochmüller, Hanns, additional, Gumus, Gulcin, additional, Bros-Facer, Virginie, additional, Rath, Ana, additional, Hanauer, Marc, additional, Olry, Annie, additional, Lagorce, David, additional, Havrylenko, Svitlana, additional, Izem, Katia, additional, Rigour, Fanny, additional, Stevanin, Giovanni, additional, Durr, Alexandra, additional, Davoine, Claire-Sophie, additional, Guillot-Noel, Léna, additional, Heinzmann, Anna, additional, Coarelli, Giulia, additional, Bonne, Gisèle, additional, Evangelista, Teresinha, additional, Allamand, Valérie, additional, Nelson, Isabelle, additional, Ben Yaou, Rabah, additional, Metay, Corinne, additional, Eymard, Bruno, additional, Cohen, Enzo, additional, Atalaia, Antonio, additional, Stojkovic, Tanya, additional, Macek, Milan, additional, Turnovec, Marek, additional, Thomasová, Dana, additional, Kremliková, Radka Pourová, additional, Franková, Vera, additional, Havlovicová, Markéta, additional, Kremlik, Vlastimil, additional, Parkinson, Helen, additional, Keane, Thomas, additional, Spalding, Dylan, additional, Senf, Alexander, additional, Robinson, Peter, additional, Danis, Daniel, additional, Robert, Glenn, additional, Costa, Alessia, additional, Patch, Christine, additional, Hanna, Mike, additional, Houlden, Henry, additional, Reilly, Mary, additional, Vandrovcova, Jana, additional, Muntoni, Francesco, additional, Zaharieva, Irina, additional, Sarkozy, Anna, additional, Timmerman, Vincent, additional, Baets, Jonathan, additional, Van de Vondel, Liedewei, additional, Beijer, Danique, additional, de Jonghe, Peter, additional, Nigro, Vincenzo, additional, Banfi, Sandro, additional, Torella, Annalaura, additional, Musacchia, Francesco, additional, Piluso, Giulio, additional, Ferlini, Alessandra, additional, Selvatici, Rita, additional, Rossi, Rachele, additional, Neri, Marcella, additional, Aretz, Stefan, additional, Spier, Isabel, additional, Sommer, Anna Katharina, additional, Peters, Sophia, additional, Oliveira, Carla, additional, Pelaez, Jose Garcia, additional, Matos, Ana Rita, additional, José, Celina São, additional, Ferreira, Marta, additional, Gullo, Irene, additional, Fernandes, Susana, additional, Garrido, Luzia, additional, Ferreira, Pedro, additional, Carneiro, Fátima, additional, Swertz, Morris A., additional, Johansson, Lennart, additional, van der Velde, Joeri K., additional, van der Vries, Gerben, additional, Neerincx, Pieter B., additional, Roelofs-Prins, Dieuwke, additional, Köhler, Sebastian, additional, Metcalfe, Alison, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Rooryck, Caroline, additional, Trimouille, Aurelien, additional, Castello, Raffaele, additional, Morleo, Manuela, additional, Pinelli, Michele, additional, Varavallo, Alessandra, additional, De la Paz, Manuel Posada, additional, Sánchez, Eva Bermejo, additional, Martín, Estrella López, additional, Delgado, Beatriz Martínez, additional, Alonso García de la Rosa, F. Javier, additional, Ciolfi, Andrea, additional, Dallapiccola, Bruno, additional, Pizzi, Simone, additional, Radio, Francesca Clementina, additional, Tartaglia, Marco, additional, Renieri, Alessandra, additional, Benetti, Elisa, additional, Balicza, Peter, additional, Molnar, Maria Judit, additional, Maver, Ales, additional, Peterlin, Borut, additional, Münchau, Alexander, additional, Lohmann, Katja, additional, Herzog, Rebecca, additional, Pauly, Martje, additional, Macaya, Alfons, additional, Marcé-Grau, Anna, additional, Osorio, Andres Nascimiento, additional, Natera de Benito, Daniel, additional, Thompson, Rachel, additional, Polavarapu, Kiran, additional, Beeson, David, additional, Cossins, Judith, additional, Rodriguez Cruz, Pedro M., additional, Hackman, Peter, additional, Johari, Mridul, additional, Savarese, Marco, additional, Udd, Bjarne, additional, Horvath, Rita, additional, Capella, Gabriel, additional, Valle, Laura, additional, Holinski-Feder, Elke, additional, Laner, Andreas, additional, Steinke-Lange, Verena, additional, Schröck, Evelin, additional, and Rump, Andreas, additional

Published
2023
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11. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Author

Iqbal, Maria, primary, Maroofian, Reza, additional, Çavdarlı, Büşranur, additional, Riccardi, Florence, additional, Field, Michael, additional, Banka, Siddharth, additional, Bubshait, Dalal K., additional, Li, Yun, additional, Hertecant, Jozef, additional, Baig, Shahid Mahmood, additional, Dyment, David, additional, Efthymiou, Stephanie, additional, Abdullah, Uzma, additional, Makhdoom, Ehtisham Ul Haq, additional, Ali, Zafar, additional, Scherf de Almeida, Tobias, additional, Molinari, Florence, additional, Mignon-Ravix, Cécile, additional, Chabrol, Brigitte, additional, Antony, Jayne, additional, Ades, Lesley, additional, Pagnamenta, Alistair T., additional, Jackson, Adam, additional, Douzgou, Sofia, additional, Ambrose, J.C., additional, Arumugam, P., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Caulfield, M.J., additional, Chan, G.C., additional, Fowler, T., additional, Giess, A., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Leigh, S.E.A., additional, Leong, I.U., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O’Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Walsh, E., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Beetz, Christian, additional, Karageorgou, Vasiliki, additional, Vona, Barbara, additional, Rad, Aboulfazl, additional, Baig, Jamshaid Mahmood, additional, Sultan, Tipu, additional, Alvi, Javeria Raza, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Toosi, Mehran Beiraghi, additional, Ashrafzadeh, Farah, additional, Imannezhad, Shima, additional, Karimiani, Ehsan Ghayoor, additional, Sarwar, Yasra, additional, Khan, Sheraz, additional, Jameel, Muhammad, additional, Noegel, Angelika A., additional, Budde, Birgit, additional, Altmüller, Janine, additional, Motameny, Susanne, additional, Höhne, Wolfgang, additional, Houlden, Henry, additional, Nürnberg, Peter, additional, Wollnik, Bernd, additional, Villard, Laurent, additional, Alkuraya, Fowzan Sami, additional, Osmond, Matthew, additional, Hussain, Muhammad Sajid, additional, and Yigit, Gökhan, additional

Published
2021
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14. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Author

Parry, David A., primary, Martin, Carol-Anne, additional, Greene, Philip, additional, Marsh, Joseph A., additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Brittain, H., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, Furió-Tarí, P., additional, Giess, A., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Orioli, A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Smith, S.C., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Tanguy, M., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tregidgo, C., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Blyth, Moira, additional, Cox, Helen, additional, Donnelly, Deirdre, additional, Greenhalgh, Lynn, additional, Greville-Heygate, Stephanie, additional, Harrison, Victoria, additional, Lachlan, Katherine, additional, McKenna, Caoimhe, additional, Quigley, Alan J., additional, Rea, Gillian, additional, Robertson, Lisa, additional, Suri, Mohnish, additional, and Jackson, Andrew P., additional

Published
2021
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15. Scalable Functionalization of Optical Fibers Using Atomically Thin Semiconductors

Author

Ngo, G.Q., George, A., Schock, R.T.K., Tuniz, A., Najafidehaghani, E., Gan, Z., Geib, N.C., Bucher, T., Knopf, H., Saravi, S., Neumann, C., Lühder, T., Schartner, E.P., Warren-Smith, S.C., Ebendorff-Heidepriem, H., Pertsch, T., Schmidt, M.A., Turchanin, A., Eilenberger, F., and Publica

Subjects
2D Material, excitonic photoluminescence, integrated photonics, nonlinear optics, transition metal dichalcogenides
Abstract

Atomically thin transition metal dichalcogenides are highly promising for integrated optoelectronic and photonic systems due to their exciton‐driven linear and nonlinear interactions with light. Integrating them into optical fibers yields novel opportunities in optical communication, remote sensing, and all‐fiber optoelectronics. However, the scalable and reproducible deposition of high‐quality monolayers on optical fibers is a challenge. Here, the chemical vapor deposition of monolayer MoS2 and WS2 crystals on the core of microstructured exposed‐core optical fibers and their interaction with the fibers' guided modes are reported. Two distinct application possibilities of 2D‐functionalized waveguides to exemplify their potential are demonstrated. First, the excitonic 2D material photoluminescence is simultaneously excited and collected with the fiber modes, opening a novel route to remote sensing. Then it is shown that third‐harmonic generation is modified by the highly localized nonlinear polarization of the monolayers, yielding a new avenue to tailor nonlinear optical processes in fibers. It is anticipated that the results may lead to significant advances in optical‐fiber‐based technologies.

Published
2020

17. Speedup of NULL convention digital circuits using NULL cycle reduction

Author

Smith, S.C.

Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.sysarc.2005.12.002 Byline: S.C. Smith Keywords: Asynchronous logic design; Delay-insensitive circuits; Self-timed circuits; Dual-rail encoding; Quad-rail encoding Abstract: A NULL Cycle Reduction (NCR) technique is developed to increase the throughput of NULL Convention Logic systems, by reducing the time required to flush complete DATA wavefronts, commonly referred to as the NULL cycle. The NCR technique exploits parallelism by partitioning input wavefronts, such that one circuit processes a DATA wavefront, while its duplicate processes a NULL wavefront. A NCR architecture is developed for both dual-rail and quad-rail circuits, using either full-word or bit-wise completion. To illustrate the technique, NCR is applied to case studies of a dual-rail non-pipelined 4-bitx4-bit unsigned multiplier using full-word completion, a quad-rail non-pipelined 4-bitx4-bit unsigned multiplier using full-word completion, and a dual-rail optimally-pipelined 4-bitx4-bit unsigned multiplier using bit-wise completion. The application of NCR yields a speedup of 1.57, 1.55, and 1.34, respectively, over the standalone versions, while maintaining delay-insensitivity. Furthermore, NCR is applied to a single slow stage of two pipelined designs to boost the pipelines' overall throughput by 20% and 26%, respectively. Author Affiliation: University of Missouri -- Rolla, Department of Electrical and Computer Engineering, 133 Emerson Electric Co. Hall, 1870 Miner Circle, Rolla, MO 65409, United States Article History: Received 19 September 2003; Accepted 12 December 2005

Published
2006

21. Susceptibility to spontaneous atherosclerosis in pigeons: an autosomal recessive trait

Author

Smith, S.C., Smith, E.C., and Taylor, R.L., Jr.

Subjects
Cardiovascular diseases -- Genetic aspects, Heredity -- Research, Pigeons -- Genetic aspects, Biological sciences
Abstract

Research is presented concerning the use of backcrossing and crossbreeding experiments involving atherosclerosis-resistant and atherosclerosis-susceptible species of pigeons to determine the inheritance of susceptibility to the disease.

Published
2001

27. Europe: the politics of arithmetic

Author

Smith, S.C.

Subjects
Decision-making -- Economic aspects, Political science, European Union -- Political aspects, European Union. Council of the European Union -- Political activity
Abstract

The decision-making procedures of the European Union allow factionalism to serve individual national interests. Decisions should be taken by a majority vote with no veto. The constituent nations have different political and economic interests and nations with similar interests can form a block to serve their collective interests. The successful functioning of the organization will depend on the passage of laws on their merits without any other considerations.

Published
1995

28. Pressure-sensitive paint measurements on a supersonic high-sweep oblique wing model

Author

McLachlan, B.G., Bell, J.H., Park, H., Kennelly, R.A., Schreiner, J.A., Smith, S.C., and Strong, J.M.

Subjects
Aerodynamics -- Research, Pressure -- Measurement, Aerospace and defense industries, Business, Science and technology
Abstract

The pressure-sensitive paint method, which uses the oxygen sensitivity of specific photoluminescent materials as paint, is versatile in mapping the pressure field over aerodynamic surfaces. Among other features, quantitative pressure measurements over various points on the model surface can be obtained through this methodology.

Published
1995

30. Edge complexation reactions of cadmium on specimen and soil-derived smectite

Author

Zachara, J.M. and Smith, S.C.

Subjects
Smectite -- Research, Soils -- Composition, Cadmium -- Research, Earth sciences
Abstract

Measurement of the significance of ion exchange and surface coordination to metal cation binding involves the use of models with a fixed-charge and hydroxylated edge sites AlOH and SiOH. The triple-layer model explains edge reactions that are crucial for soil smectite. A detailed description of Cd sorption to smectitic soil clays requires an analysis of the slope and sorption magnitude of soil isolate, edge site sorption reaction and bondage to organic materials.

Published
1994

31. Measurement of thyroglobulin mRNA in peripheral blood as an adjunctive test for monitoring thyroid cancer. (Original Article)

Author

Grammatopoulos, D., Elliott, Y., Smith, S.C., Brown, I., Grieve, R.J., Hillhouse, E.W., Levine, M.A., and Ringel, M.D.

Subjects
Genetic markers -- Usage -- Physiological aspects -- Genetic aspects, Thyroglobulin -- Physiological aspects -- Usage -- Genetic aspects, Messenger RNA -- Physiological aspects -- Usage -- Genetic aspects, Thyroid cancer -- Prognosis -- Genetic aspects, Biological markers -- Usage -- Physiological aspects -- Genetic aspects, Health, Physiological aspects, Usage, Genetic aspects, Prognosis
Abstract

Aims: Monitoring treated patients with thyroid cancer for recurrent or metastatic disease is currently based upon the serial measurement of circulating plasma thyroglobulin (Tg) concentrations. However, the clinical usefulness of [...]

Published
2003

32. Cadmium sorption on specimen and soil smectites in sodium and calcium electrolytes

Author

Zachara, J.M., Smith, S.C., McKinley, J.P., and Resch, C.T.

Subjects
Soils -- Cadmium content, Smectite -- Research, Clay minerals -- Research, Sodium -- Research, Calcium -- Environmental aspects, Earth sciences
Abstract

Analysis of the selectivity of specimen and soil-derived smectites for Cd, involved the estimation of Cd sorption on SWy-l and on clay-sized separates from two smectitic subsoils. Enhancements in sorption activity accompanied those in PH, for the separates. The separates formed Cd in Na+ and Ca2+ electrolyses. A layer edge surface area, which enhanced the contribution of oxide-like complexation reactions of Cd sorption, is partly responsible for the queer behavior of smectites.

Published
1993

33. High-performance diffusion disordered AlxGa1-xAs lasers via a self-aligned process and conventional open-tube annealing

Author

Burton, R.S., Schlesinger, T.E., Holmgren, D.J., Smith, S.C., and Burnham, R.D.

Subjects
Lasers -- Research, Annealing -- Analysis, Semiconductors -- Diffusion, Diffusion -- Research, Physics
Abstract

A self-aligned process for the fabrication of very low threshold current lasers is evaluated. Quantum well heterostructure crystals are grown on a negative-type GaAs substrate by chemical vapor deposition. The sample is sputter etched and subsequently subjected to thermal annealing at a temperature range of 835 to 840 degrees centigrade. SiO2 diffusion measurements conducted on the annealed sample show that the fabricated threshold is comparable to other low-threshold AlxGa1-xAs impurity-induced layer disordering lasers.

Published
1993

34. Effect of sorption on the biodegradation of quinoline

Author

Smith, S.C., Ainsworth, C.C., Traina, S.J., and Hicks, R.J.

Subjects
Soil absorption and adsorption -- Research, Quinoline -- Research, Biodegradation -- Research, Earth sciences
Abstract

The rates of microbial transformation and mineralization of quinoline were decreased by the presence of smectite clays. Sorption of quinoline to clay particles resulted in complexes resistant to microbial action, hence, desorption determined the rate of degradation. Phase composition also influenced the degradation rate, with aqueous quinoline being more rapidly mineralized than the sorbed quinoline. The degradation rate is thought to be controlled by surface chemical processes, but no specific processes could be identified.

Published
1992

35. Death of the salesman.

Author

Smith, S.C.

Subjects
Commercial agents -- Compensation and benefits, Wages -- Cases, Employee dismissals -- Cases, King v. T. Tunnock Ltd. (2000 S.C. 424 (Sess.))
Published
2000

37. Making sense of contracts.

Author

Smith, S.C.

Subjects
Contracts -- Laws, regulations and rules, Investors Compensation Scheme Ltd. v. West Bromwich Building Society ((1998) 1 W.L.R. 896 (H.L.))
Published
1999

42. Biallelic variants in KARS1are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author

Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.

Abstract

Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo.

Published
2021
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43. Needs and resources.

Author

Smith, S.C.

Subjects
Welfare -- Management, Government spending policy -- Analysis, United Kingdom. Department of Social Security -- Management
Published
1998

45. When the truth hurts.

Author

Smith, S.C.

Subjects
Duty of care (Law) -- Cases, Negligence -- Cases
Published
1998

48. [Accepted Manuscript] Change in Health-related Quality of Life After Referral to Memory Assessment Services

Author

Park, M.H., Smith, S.C., Chrysanthaki, T., Neuburger, J., Ritchie, C.W., Hendriks, A.A., and Black, N.

Subjects
humanities
Abstract

Despite strong support for the provision of memory assessment services (MASs) in England and other countries, their effectiveness in improving patient outcomes is uncertain. We aimed to describe change in patients' health-related quality of life (HRQL) 6 months after referral to MASs and to examine associations with patient characteristics and use of postdiagnostic interventions. Data from 883 patients referred to 69 MASs and their informal caregivers (n=569) were collected at referral and 6 months later. Multivariable linear regression was used to examine associations of change in HRQL (DEMQOL, DEMQOL-Proxy) with patient characteristics (age, sex, ethnicity, socioeconomic deprivation, and comorbidity) and use of postdiagnostic interventions (antidementia medications and nonpharmacological therapies). Mean HRQL improved, irrespective of diagnosis: self-reported HRQL increased 3.4 points (95% CI, 2.7-4.1) and proxy-reported HRQL 1.3 points (95% CI, 0.5-2.1). HRQL change was not associated with any of the patient characteristics studied. Patients with dementia (54%) receiving antidementia drugs reported greater improvement in their HRQL but those using nonpharmacological therapies reported less improvement compared with those note receiving therapy. HRQL improved in the first 6 months after referral to MASs. Research is needed to determine longer term sustainability of the benefits and the cost-effectiveness of MASs.

Published
2017

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