Search Results - Aaron R. H. LeBlanc

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    Measurement of light-by-light scattering and search for axion-like particles with 2.2 nb$^{-1}$ of Pb+Pb data with the ATLAS detector by Aad, Georges, Abbott, Brad, Abbott, Dale Charles, Abed Abud, Adam, Abeling, Kira, Abhayasinghe, Deshan Kavishka, Abidi, Syed Haider, Abouzeid, Ossama, Abraham, Nicola, Abramowicz, Halina, Abreu, Henso, Abulaiti, Yiming, Acharya, Bobby Samir, Achkar, Baida, Adam, Lennart, Adam Bourdarios, Claire, Adamczyk, Leszek, Adamek, Lukas, Adelman, Jahred, Adersberger, Michael, Adiguzel, Aytul, Adorni, Sofia, Adye, Tim, Affolder, A.A., Affolder, Tony, Afik, Yoav, Agapopoulou, Christina, Agaras, Merve Nazlim, Aggarwal, Anamika, Agheorghiesei, Catalin, Aguilar Saavedra, Juan Antonio, Ahmad, Ammara, Ahmadov, Faig, Ahmed, Waleed Syed, Ai, Xiaocong, Aielli, Giulio, Akatsuka, Shunichi, Akbiyik, Melike, Akesson, Torsten Paul Ake, Akilli, Ece, Akimov, Andrei, Al Khoury, Konie, Alberghi, Gian Luigi, Albert, Justin, Alconada Verzini, Maria Josefina, Alderweireldt, Sara Caroline, Aleksa, Martin, Aleksandrov, Igor, Alexa, Calin, Alexopoulos, Theodoros, Alfonsi, Alice, Alfonsi, Fabrizio, Alhroob, Muhammad, Ali, Babar, Ali, Shahzad, Aliev, Malik, Alimonti, Gianluca, Allaire, Corentin, Allbrooke, Benedict, Allen, Benjamin William, Allport, Phillip, Aloisio, Alberto, Alonso, Francisco, Alpigiani, Cristiano, Alunno Camelia, Elio, Alvarez Estevez, Manuel, Alviggi, Mariagrazia, Amaral Coutinho, Yara, Ambler, Alessandro, Ambroz, Luca, Amelung, Christoph, Amidei, Dante Eric, Amor dos Santos, Susana Patricia, Amoroso, Simone, Amrouche, Cherifa Sabrina, An, Fenfen, Anastopoulos, Christos, Andari, Nansi, Andeen, Timothy, Anders, John Kenneth, Andrean, Stefio Yosse, Andreazza, Attilio, Andrei, George Victor, Anelli, Christopher Ryan, Angelidakis, Stylianos, Angerami, Aaron, Anisenkov, Alexey, Annovi, Alberto, Antel, Claire, Anthony, Matthew Thomas, Antipov, Egor, Antonelli, Mario, Antrim, Daniel Joseph, Anulli, Fabio, Aoki, Masato, Aparisi Pozo, Javier Alberto, Aparo, Marco, Aperio Bella, Ludovica, Aranzabal, Nordin, Araujo Ferraz, Victor

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    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling by Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

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    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification by Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.

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    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region by Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.

    Published in Epilepsia (Copenhagen)
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    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes by Phillips, Jennifer B., Lanza, Denise G., Jain, Mahim, Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Gibbs, Richard A., Rosenfeld, Jill A., Postlethwait, John, Beaudet, Arthur L., Ranza, Emmanuelle, Cormier-Daire, Valérie, Orange, Jordan S., Allard, Patrick, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Briere, Lauren C., Brokamp, Elly, Brush, Matthew, Coakley, Terra R., Cope, Heidi, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Glanton, Emily, Goldman, Alica M., Gourdine, Jean-Philippe F., Groden, Catherine A., Haendel, Melissa, Hamid, Rizwan, High, Frances, Huang, Yong, Karaviti, Lefkothea, Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lee, Hane, Loo, Sandra K., Loscalzo, Joseph, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Murdock, David R., Newberry, J. Scott, Nicholas, Sarah K., Palmer, Christina G.S., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Pusey, Barbara N., Sampson, Jacinda B., Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tan, Queenie K.-G., Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Wangler, Michael F., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Yang, John, Yang, Yaping, Yoon, Amanda J., Zastrow, Diane B., Zhao, Chunli, Offiah, Amaka C., Carey, John C., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan

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    A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing by Zastrow, Diane B., Bonner, Devon, Reuter, Chloe M., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Fisher, Paul G., Merker, Jason, Schelley, Susan, Zappala, Zach, Prybol, Cameron, Olahova, Monika, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bick, David P., Birch, Camille L., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Godfrey, Rena A., Goldstein, David B., Hamid, Rizwan, Holm, Ingrid A., Howerton, Ellen M., Huang, Yong, Jones, Angela L., Karaviti, Lefkothea, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez‐Agosto, Julian A., May, Thomas, McConkie‐Rosell, Allyn, McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Moretti, Paolo M., Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Orengo, James P., Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Rosenfeld, Jill A., Sampson, Jacinda B., Shakachite, Lisa, Sharma, Prashant, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Webb‐Robertson, Bobbie‐Jo M., Westerfield, Monte, Wolfe, Lynne A., Yu, Guoyun, Zheng, Allison

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    Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students by White, Shana, Fisk, Dianna G., Rego, Shannon, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Ormond, Kelly E., Hanson‐Kahn, Andrea K., Adams, David R., Aday, Aaron, Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Bellen, Hugo J., Bernstein, Jonathan A., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dayal, Jyoti G., Dorrani, Naghmeh, Enns, Gregory M., Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Gahl, William A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Johnston, Jean M., Krasnewich, Donna M., Lalani, Seema R., Lee, Brendan H., Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mamounas, Laura A., Marom, Ronit, Martin, Martin G., Martínez‐Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Carl Pallais, J., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Sullivan, Jennifer A., Tifft, Cynthia J., Urv, Tiina K., Vilain, Eric, Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison

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    IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells by Sheehan, Jonathan H., Bastarache, Lisa, Stone, William M., Perugino, Cory, Pilkinton, Mark, McDonnell, Wyatt J., Cogan, Joy, Mattoo, Hamid, Hamid, Rizwan, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Brush, Matthew, Chen, Shan, Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Donnell‐Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldman, Alica M., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Handley, Lori H., Herzog, Matthew R., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Korrick, Susan, Kyle, Jennifer E., Lalani, Seema R., LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marom, Ronit, Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McCormack, Colleen E., Merker, Jason D., Might, Matthew, Murdock, David R., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Papp, Jeanette C., Reuter, Chloe M., Rodan, Lance H., Rosenfeld, Jill A., Scott, Daryl A., Sharma, Prashant, Spillmann, Rebecca C., Stoler, Joan M., Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Vogel, Tiphanie P., Waggott, Daryl M., Walker, Melissa, Waters, Katrina M., Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Zheng, Allison

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