Treffer 1 - 19 von 19 für Suche 'Krier, Kathleen', Suchdauer: 1,40s Treffer weiter einschränken
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    Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine von Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.


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    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia von Kanca, Oguz, Andrews, Jonathan C., Patel, Chirag, Slavotinek, Anne M., Williams, Judy, Indaram, Maanasa, Lau, C. Christopher, Adams, David R., Agrawal, Pankaj, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Bick, David P., Bohnsack, John, Briere, Lauren C., Carey, John, Cogan, Joy D., Cole, F. Sessions, D'Souza, Precilla, Dayal, Jyoti G., Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Godfrey, Rena A., Goldman, Alica M., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Huang, Alden, Huang, Yong, Jones, Angela L., Krasnewich, Donna M., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Levy, Shawn E., Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Markello, Thomas C., Marth, Gabor, McConkie-Rosell, Allyn, Might, Matthew, Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rosenfeld, Jill A., Ruzhnikov, Maura, Samson, Susan L., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stong, Nicholas, Sweetser, David A., Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Wang, Lee-kai, Wangler, Michael F., Wegner, Daniel, Wolfe, Lynne A., Worthey, Elizabeth A., Yu, Guoyun, Zhao, Chunli, Chung, Wendy K., Dobyns, William B., Adams, David R., Gahl, William A., Malicdan, May Christine V.


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    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

    Veröffentlicht in Genetics in medicine

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    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations von Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.

    Veröffentlicht in Genetics in medicine

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    Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis von Schoch, Kelly, Sullivan, Jennifer, Kranz, Peter, Kontrogianni‐Konstantopoulos, Aikaterini, Adams, David R., Allard, Patrick, Balasubramanyam, Ashok, Barbouth, Deborah, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Bonner, Devon, Boone, Braden E., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Butte, Manish J., Chang, Ta Chen Peter, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dasari, Surendra, Davids, Mariska, Dhar, Shweta U., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Hanchard, Neil A., High, Frances, Hom, Jason, Huang, Alden, Isasi, Rosario, Kelley, Emily G., Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Hane, Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Majcherska, Marta M., Malicdan, May Christine V., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, McCauley, Jacob, McConkie‐Rosell, Allyn, McCormack, Colleen E., Might, Matthew, Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Robertson, Amy K., Sacco, Ralph, Sampson, Jacinda B., Schaechter, Judy, Schedl, Timothy, Silverman, Edwin K., Stoler, Joan M., Sullivan, Jennifer A., Sweetser, David A., Tekin, Mustafa, Thorson, Willa, Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Walley, Nicole M., Walker, Melissa, Waters, Katrina M., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J.

    Veröffentlicht in Human mutation

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    One is the loneliest number: genotypic matchmaking using the electronic health record von Koziura, Mary E., Phillips, John A., Peterson, Josh F., Newman, John H., Bastarache, Lisa, Bacino, Carlos A., Balasubramanyam, Ashok, Clark, Gary D., Dhar, Shweta U., Jamal, Fariha, Lalani, Seema R., Lewis, Richard A., Orengo, James P., Vogel, Tiphanie P., Wangler, Michael F., Goldstein, David B., Cope, Heidi, Jiang, Yong-hui, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Fieg, Elizabeth L., Korrick, Susan, Krier, Joel B., Maas, Richard L., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., Bick, David P., Birch, Camille L., Boone, Braden E., Levy, Shawn E., Worthey, Elizabeth A., Oglesbee, Devin, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, McCauley, Jacob, Sacco, Ralph, Thorson, Willa, Colley, Heather A., Krasnewich, Donna M., Mamounas, Laura A., Rowley, Robb K., Tamburro, Cecelia P., Bonnenmann, Carsten, Estwick, Tyra, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Novacic, Donna, Pusey, Barbara N., Sharma, Prashant, Toro, Camilo, Wahl, Colleen E., Yu, Guoyun, Baker, Eva, Adams, David R., Malicdan, May Christine V., Yang, John, Koeller, David M., Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Bernstein, Jonathan A., Bonner, Devon, Fernandez, Liliana, Huang, Yong, Kohler, Jennefer N., Majcherska, Marta M., Reuter, Chloe M., Sampson, Jacinda B., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Fresard, Laure, Bejerano, Gill, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Martin, Martin G., Woods, Jeremy D., Yoon, Amanda J., Botto, Lorenzo, Andrews, Ashley, Carey, John, Quinlan, Aaron, Bayrak-Toydemir, Pinar, Postlethwait, John H., Shakachite, Lisa, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Solnica-Krezel, Lilianna

    Veröffentlicht in Genetics in medicine

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    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia von Patel, Chirag, Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Crawford, Joanna, Adams, David R., Agrawal, Pankaj, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Bick, David P., Bohnsack, John, Briere, Lauren C., Carey, John, Cogan, Joy D., Cole, F. Sessions, Cooper, Cynthia M., D'Souza, Precilla, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Godfrey, Rena A., Goldman, Alica M., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Huang, Alden, Huang, Yong, Jones, Angela L., Krasnewich, Donna M., Kyle, Jennifer E., Lalani, Seema R., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Markello, Thomas C., Marth, Gabor, Marwaha, Shruti, McConkie-Rosell, Allyn, Might, Matthew, Morimoto, Marie, Murdock, David R., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rosenfeld, Jill A., Ruzhnikov, Maura, Samson, Susan L., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stong, Nicholas, Sweetser, David A., Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Wang, Lee-kai, Wangler, Michael F., Wegner, Daniel, Wolfe, Lynne A., Worthey, Elizabeth A., Yu, Guoyun, Zhao, Chunli, Malicdan, May Christine V.


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    Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations von Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.

    Veröffentlicht in Genetics in medicine

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    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects von Calabretta, Sara, Boudrahem-Addour, Nassima, Joset, Pascal, Krier, Joel, Adams, David R., Allard, Patrick, Azamian, Mahshid S., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Bonner, Devon, Boone, Braden E., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Carrasquillo, Olveen, Coakley, Terra R., Cobban, Laurel A., Colley, Heather A., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dorset, Daniel C., Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., High, Frances, Hom, Jason, Huang, Alden, Isasi, Rosario, Kelley, Emily G., Lalani, Seema R., Lanza, Ian R., Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Levitt, Roy, Lincoln, Sharyn A., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Phillips, John A., Quinlan, Aaron, Raja, Archana N., Renteria, Genecee, Robertson, Amy K., Sacco, Ralph, Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Tamburro, Cecelia P., Tekin, Mustafa, Tifft, Cynthia J., Toro, Camilo, Urv, Tiina K., Velinder, Matt, Walley, Nicole M., Wangler, Michael F., Waters, Katrina M., Wegner, Daniel, Wheeler, Matthew T., Yoon, Amanda J., Yu, Guoyun, Simpson, Brittany N., Trimouille, Aurélien, Delphine, Heron, Keren, Boris, Charron, Frédéric


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