Search Results - Batzli, Janet M

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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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  14. 14

    IRF2BPL Is Associated with Neurological Phenotypes by Marcogliese, Paul C., Rosenfeld, Jill A., Koenig, Mary Kay, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Salamon, Noriko, Infante, Elena, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Lark, Robert, Riley, Kacie, Golden-Grant, Katie, Poppe, Bruce, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yu, Guoyun, Zheng, Allison, Yamamoto, Shinya, Wangler, Michael F., Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J.

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

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  16. 16

    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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  17. 17

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation by Mao, Dongxue, Reuter, Chloe M., Farrow, Emily G., Rosenfeld, Jill A., Mackenzie, Katherine M., Küry, Sébastien, Genetti, Casie A., Alejandro, Mercedes, Agrawal, Pankaj B., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Beck, Anita, Bellen, Hugo J., Berg-Rood, Beverly, Bernier, Raphael, Bivona, Stephanie, Bohnsack, John, Briere, Lauren C., Burke, Elizabeth A., Butte, Manish J., Carrasquillo, Olveen, Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dhar, Shweta U., Emrick, Lisa T., Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Forghani, Irman, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Hahn, Sihoun, Hanchard, Neil A., Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Karaviti, Lefkothea, Kelley, Emily G., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez-Agosto, Julian A., McCormack, Colleen E., Merritt, J. Lawrence, Moretti, Paolo M., Mulvihill, John J., Murdock, David R., Nickerson, Deborah, Pallais, J. Carl, Posey, Jennifer E., Potocki, Lorraine, Raja, Archana N., Renteria, Genecee, Rosenfeld, Jill A., Samson, Susan L., Schedl, Timothy, Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Urv, Tiina K., Wahl, Colleen E., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Bernstein, Jonathan A., Chao, Hsiao-Tuan

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  18. 18

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

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    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia by 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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  20. 20

    IRF2BPL Is Associated with Neurological Phenotypes by Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Graham, John M., Infante, Elena, Zuo, Zhongyuan, Lee, Pei-Tseng, Xia, Fan, Smith, Edward C., Jasien, Joan, Spiridigliozzi, Gail, Koeberl, Dwight D., Golden-Grant, Katie, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Coakley, Terra R., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yamamoto, Shinya, Yu, Guoyun, Zheng, Allison, Wangler, Michael F., Nelson, Stanley F., Bellen, Hugo J.

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