Showing 1 - 20 results of 31 for search '"Tan, L.M."', query time: 3.42s Refine Results  

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

by Donkervoort, Sandra, Mohassel, Payam, Brull, Astrid, Mozaffar, Tahseen, Dyment, David A., Pajusalu, Sander, Hurth, Kyle, McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Allworth, Aimee, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beggs, Alan H., Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Brown, Gabrielle, Butte, Manish J., Cassini, Thomas, Chao, Hsiao‐Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Emrick, Lisa T., Fu, Jiayu, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Huang, Yan, Hutchison, Sarah, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Maduro, Valerie V., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McGee, Elisabeth, Miller, Danny, Mirzaa, Ghayda, Nakano‐Okuno, Mariko, Nelson, Stanley F., Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Petcharet, Leoyklang, Phillips, John A., Quinlan, Aaron, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Solomon, Ben, Sullivan, Kathleen, Sutton, Shirley, Tan, Queenie K.‐G., Amelia, L. M. Tan, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Wang, Lee‐kai, Wangler, Michael F., Wegner, Daniel, Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Mammen, Andrew L., O'Donnell‐Luria, Anne
Published in Annals of clinical and translational neurology (01.03.2024)

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International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

by Brat, Gabriel A, Weber, Griffin M, Gehlenborg, Nils, Avillach, Paul, Palmer, Nathan P, Chiovato, Luca, Cimino, James, Waitman, Lemuel R, Omenn, Gilbert S, Malovini, Alberto, Moore, Jason H, Beaulieu-Jones, Brett K, Tibollo, Valentina, Murphy, Shawn N, Yi, Sehi L', Keller, Mark S, Bellazzi, Riccardo, Hanauer, David A, Serret-Larmande, Arnaud, Gutierrez-Sacristan, Alba, Holmes, John J, Bell, Douglas S, Mandl, Kenneth D, Follett, Robert W, Klann, Jeffrey G, Murad, Douglas A, Scudeller, Luigia, Bucalo, Mauro, Kirchoff, Katie, Craig, Jean, Obeid, Jihad, Jouhet, Vianney, Griffier, Romain, Cossin, Sebastien, Moal, Bertrand, Patel, Lav P, Bellasi, Antonio, Prokosch, Hans U, Kraska, Detlef, Sliz, Piotr, Tan, Amelia L M, Ngiam, Kee Yuan, Zambelli, Alberto, Mowery, Danielle L, Schiver, Emily, Devkota, Batsal, Bradford, Robert L, Daniar, Mohamad, Daniel, Christel, Benoit, Vincent, Bey, Romain, Paris, Nicolas, Serre, Patricia, Orlova, Nina, Dubiel, Julien, Hilka, Martin, Jannot, Anne Sophie, Breant, Stephane, Leblanc, Judith, Griffon, Nicolas, Burgun, Anita, Bernaux, Melodie, Sandrin, Arnaud, Salamanca, Elisa, Cormont, Sylvie, Ganslandt, Thomas, Gradinger, Tobias, Champ, Julien, Boeker, Martin, Martel, Patricia, Esteve, Loic, Gramfort, Alexandre, Grisel, Olivier, Leprovost, Damien, Moreau, Thomas, Varoquaux, Gael, Vie, Jill-Jênn, Wassermann, Demian, Mensch, Arthur, Caucheteux, Charlotte, Haverkamp, Christian, Lemaitre, Guillaume, Bosari, Silvano, Krantz, Ian D, South, Andrew, Cai, Tianxi, Kohane, Isaac S
Published in NPJ digital medicine (19.08.2020)

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Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

by Maghiro, AudreyStephannie, Tabor, Holly K., Acosta, Maria T., Amendola, Laura, Andrews, Ashley, Balasubramanyam, Ashok, Baldridge, Dustin, Bennett, Jimmy, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Sessions Cole, F., Colley, Heather A., Cope, Heidi, D'Souza, Precilla, Dasari, Surendra, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Introne, Wendy, Izumi, Kosuke, Jayadev, Suman, Kiley, Dana, Kobren, Shilpa N., Korrick, Susan, Krasnewich, Donna M., Lam, Christina, Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marth, Gabor, McConkie-Rosell, Allyn, Mefford, Heather, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Jennifer A., Sybert, Virginia, Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John
Published in The Journal of pediatrics (01.10.2023)

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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

by Mulvihill, John J., Findley, Laura, Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Al-Beshri, Ali, Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Botto, Lorenzo, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Earl, Dawn, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Hurst, Anna, Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Karasozen, Yigit, Kilich, Gonench, Kobren, Shilpa N., Korf, Bruce, Krakow, Deborah, Kravets, Elijah, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maghiro, Audrey Stephannie, Mao, Rong, Marth, Gabor, McConkie-Rosell, Allyn, McCray, Alexa T., Mikati, Mohamad, Morimoto, Marie, Mulvihill, John J., Novacic, Donna, Oglesbee, Devin, Parker, Neil H., Petcharet, Leoyklang, Posey, Jennifer E., Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Robertson, Amy K., Rodriguez, Martin, Rosenfeld, Jill A., Ruzhnikov, Maura, Sabaii, Marla, Schedl, Timothy, Seto, Elaine, Shelkowitz, Emily, Sisco, Kathy, Skelton, Tammi, Smith, Carson A., Solnica-Krezel, Lilianna, Sullivan, Kathleen, Sybert, Virginia, Tan, Amelia L.M., Taylor, Herman, Thorson, Willa, Tran, Alyssa A., Vanderver, Adeline, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe
Published in Genetics in medicine (01.10.2024)

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

by Atala, Kristhen, Dutta, Debdeep, Khanshour, Anas, Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Ketkar, Shamika, Posey, Jennifer E., Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tran, Alyssa A., Hubshman, Monika Weisz, Kanca, Oguz, Eng, Christine M., Falk, Marni, Hassey, Kelly, Zhang, Zhe, Mikati, Mohamad, Beggs, Alan H., Berry, Gerard T., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Sweetser, David A., Glanton, Emily, Maghiro, Audrey Stephannie C., McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Tekin, Mustafa, Zuchner, Stephan, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Novacic, Donna, Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Fu, Jiayu, Wood, Heidi, Allworth, Aimee, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Lam, Christina, Mirzaa, Ghayda, Raskind, Wendy, Alvarez, Raquel L., Bejerano, Gill, Bonner, Devon, Fisher, Paul G., Kohler, Jennefer N., Kravets, Elijah, Marwaha, Shruti, Ruzhnikov, Maura, Sutton, Shirley, Ungar, Rachel A., Crouse, Andrew B., Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Fogel, Brent L., McGee, Elisabeth, Nieves-Rodriguez, Shirley, Alvey, Justin, Bohnsack, John, Moretti, Paolo, Quinlan, Aaron, Marth, Gabor, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Wegner, Daniel, Cole, F. Sessions, Schedl, Timothy, Wangler, Michael F., Bellen, Hugo J.
Published in Genetics in medicine (01.09.2024)

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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

by Briere, Lauren C., Acosta, Maria T., Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Barbouth, Deborah, Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eng, Christine M., Fisher, Paul G., Gahl, William A., Glass, Ian, Gochuico, Bernadette, Hamid, Rizwan, Hayes, Nichole, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jobanputra, Vaidehi, Kiley, Dana, Kohler, Jennefer N., Korrick, Susan, Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, Miller, Danny, Morava, Eva, Moretti, Paolo, Novacic, Donna, Orengo, James P., Pallais, J. Carl, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Schaechter, Judy, Sisco, Kathy, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Sullivan, Kathleen, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tarakad, Arjun, Thorson, Willa, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wenger, Tara, Wheeler, Matthew T., Yang, John, Zhang, Zhe, Zuchner, Stephan
Published in Genetics in medicine (01.06.2024)

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Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: an international multi-centre observational cohort study

by Tan, Bryce W.Q., Moal, Bertrand, Neuraz, Antoine, Visweswaran, Shyam, Hanauer, David A., Maidlow, Sarah E., Avillach, Paul, Serrano Balazote, Pablo, Loh, Ne Hooi Will, Chiudinelli, Lorenzo, Cai, Tianxi, Omenn, Gilbert S., Holmes, John H., Ngiam, Kee Yuan, Agapito, Giuseppe, Albi, Giuseppe, Alloni, Anna, Angoulvant, François, Anthony, Li L.L.J., Aronow, Bruce J., Balshi, James, Bellasi, Antonio, Bernal-Sobrino, José Luis, Bhatnagar, Surbhi, Bosari, Silvano, Bourgeois, Florence T., Bradford, Robert L., Bryant, William A., Cannataro, Mario, Chiudinelli, Lorenzo, Colicchio, Tiago K., Cormont, Sylvie, Dagliati, Arianna, Daniar, Mohamad, Daniel, Christel, Dubiel, Julien, DuVall, Scott L., Estiri, Hossein, Fan, Shirley, Follett, Robert W., Ganslandt, Thomas, Gehlenborg, Nils, Getzen, Emily J., Geva, Alon, Griffier, Romain, Gutiérrez-Sacristán, Alba, Guzzi, Pietro H., Henderson, Darren W., Ho, Yuk-Lam, Holmes, John H., Hong, Chuan, Kavuluru, Ramakanth, Kernan, Kate F., Klann, Jeffrey G., Krantz, Ian D., Krishnamurthy, Ashok K., Leblanc, Judith, Lemaitre, Guillaume, Liu, Molei, Long, Qi, Maidlow, Sarah E., Makoudjou, Adeline, Makwana, Simran, Malovini, Alberto, Mazzotti, Diego R., Milano, Marianna, Moraleda, Cinta, Mowery, Danielle L., Naughton, Thomas P., Ngiam, Kee Yuan, Njoroge, Wanjiku F.M., Omenn, Gilbert S., Orlova, Nina, Ostasiewski, Brian D., Palmer, Nathan P., Paris, Nicolas, Patel, Lav P., Priya, Tanu, Raskin, Maryna, Rieg, Siegbert, Roig-Domínguez, Gustavo, Sáez, Carlos, Schubert, Petra, Schuettler, Juergen, Shah, Mohsin, Son, Jiyeon, Sonday, Charles, Tan, Bryce W.Q., Terriza-Torres, Ana I., Tibollo, Valentina, Tippmann, Patric, Vallejos, Andrew K., Vella, Margaret E., Vie, Jill-Jênn, Vitacca, Michele, Wassermann, Demian, Ye, Ye, Yehya, Nadir, Zambelli, Alberto, Zhang, Harrison G.
Published in EClinicalMedicine (01.01.2023)

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