Search Results - Barry, Brenda J.

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  1. 1
    Outcomes of Strabismus Surgery in Genetically Confirmed Congenital Fibrosis of the Extraocular Muscles

    Outcomes of Strabismus Surgery in Genetically Confirmed Congenital Fibrosis of the Extraocular Muscles by Heidary, Gena, Mackinnon, Sarah, Elliott, Alexandra, Barry, Brenda J., Engle, Elizabeth C., Hunter, David G.

    Published 2019
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  2. 2
    Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

    Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort by Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C, Barry, Brenda J, Partlow, Jennifer N, Chang, Bernard S, Shaw, Gary M, Barkovich, A James, Walsh, Christopher A

    Published 2010
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  3. 3
    Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures

    Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures by Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.

    Published 2015
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  4. 4
    Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

    Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy by Nakayama, Tojo, Wu, Jiang, Galvin-Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan, El-Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.

    Published 2017
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  5. 5
    Cerebral vein malformations result from loss of Twist1 expression and BMP signaling from skull progenitor cells and dura

    Cerebral vein malformations result from loss of Twist1 expression and BMP signaling from skull progenitor cells and dura by Tischfield, Max A., Robson, Caroline D., Gilette, Nicole M., Chim, Shek Man, Sofela, Folasade A., DeLisle, Michelle M., Gelber, Alon, Barry, Brenda J., MacKinnon, Sarah, Dagi, Linda R., Nathans, Jeremy, Engle, Elizabeth C.

    Published 2017
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  6. 6
    Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

    Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans by Whitman, Mary C, Miyake, Noriko, Nguyen, Elaine H, Bell, Jessica L, Matos Ruiz, Paola M, Chan, Wai-Man, Di Gioia, Silvio Alessandro, Mukherjee, Nisha, Barry, Brenda J, Bosley, T M, Khan, Arif O, Engle, Elizabeth C

    Published 2019
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  7. 7
    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly by Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.

    Published 2011
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  8. 8
    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly by Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.

    Published 2011
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  9. 9
    Developmental and Degenerative Features in a Complicated Spastic Paraplegia

    Developmental and Degenerative Features in a Complicated Spastic Paraplegia by Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A

    Published 2010
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  10. 10
    The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis

    The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis by Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A., Barry, Brenda J., Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A., Chang, Bernard S.

    Published 2009
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  11. 11
    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture by Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.

    Published 2010
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  12. 12
    PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

    PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features by Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi H., Partlow, Jennifer N., Barry, Brenda J., Al-Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al-Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.

    Published 2018
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  13. 13
    Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East

    Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East by Manzini, M. Chiara, Gleason, Danielle, Chang, Bernard S., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R., Schmidt, Karen, Davis, Jessica G., Basel-Vanagaite, Lina, Seidahmed, Mohamed Z., Salih, Mustafa A. M., Dobyns, William B., Walsh, Christopher A.

    Published 2008
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  14. 14
    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations by Poduri, Annapurna, Evrony, Gilad D., Cai, Xuyu, Elhosary, Princess Christina, Beroukhim, Rameen, Lehtinen, Maria K., Hills, L. Benjamin, Heinzen, Erin L., Hill, Anthony, Hill, R. Sean, Barry, Brenda J., Bourgeois, Blaise F.D., Riviello, James J., Barkovich, A. James, Black, Peter M., Ligon, Keith L., Walsh, Christopher A.

    Published 2012
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  15. 15
    Microcephaly gene links Trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

    Microcephaly gene links Trithorax and REST/NRSF to control neural stem cell proliferation and differentiation by Yang, Yawei J., Baltus, Andrew E., Mathew, Rebecca S., Murphy, Elisabeth A., Evrony, Gilad D., Gonzalez, Dilenny M., Wang, Estee P., Marshall-Walker, Christine A., Barry, Brenda J., Murn, Jernej, Tatarakis, Antonis, Mahajan, Muktar A., Samuels, Herbert H., Shi, Yang, Golden, Jeffrey A., Mahajnah, Muhammad, Shenhav, Ruthie, Walsh, Christopher A.

    Published 2012
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  16. 16
    Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

    Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development by Jurgens, Julie A., Barry, Brenda J., Lemire, Gabrielle, Chan, Wai-Man, Whitman, Mary C., Shaaban, Sherin, Robson, Caroline D., MacKinnon, Sarah, England, Eleina M., McMillan, Hugh J., Kelly, Christopher, Pratt, Brandon M., O’Donnell-Luria, Anne, MacArthur, Daniel G., Boycott, Kym M., Hunter, David G., Engle, Elizabeth C.

    Published 2021
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  17. 17
    Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

    Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy by Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.

    Published 2012
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  18. 18
    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development by Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.

    Published 2012
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  19. 19
    Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

    Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome by Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

    Published 2012
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  20. 20
    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures by Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima

    Published 2014
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