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

Tekijä Heidary, Gena, Mackinnon, Sarah, Elliott, Alexandra, Barry, Brenda J., Engle, Elizabeth C., Hunter, David G.
Julkaisussa J AAPOS (2019)

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

Tekijä 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
Julkaistu 2010

Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism

Tekijä McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.
Julkaisussa Am J Med Genet A (2015)

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

Tekijä 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.
Julkaisussa Am J Med Genet A (2015)

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

Tekijä 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.
Julkaisussa Hum Mutat (2017)

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

Tekijä 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.
Julkaisussa Dev Cell (2017)

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

Tekijä 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
Julkaisussa Hum Mol Genet (2019)

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Tekijä 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.
Julkaistu 2011

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Tekijä 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.
Julkaistu 2011

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

Tekijä 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
Julkaistu 2010

The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis

Tekijä 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.
Julkaistu 2009

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

Tekijä 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.
Julkaistu 2010

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Tekijä 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.
Julkaisussa Am J Med Genet B Neuropsychiatr Genet (2018)

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

Tekijä 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.
Julkaistu 2008

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Tekijä 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.
Julkaistu 2012

Microcephaly gene links Trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

Tekijä 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.
Julkaistu 2012

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

Tekijä 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.
Julkaisussa Eur J Hum Genet (2021)

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

Tekijä 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.
Julkaistu 2012

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Tekijä 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.
Julkaistu 2012

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

Tekijä 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.
Julkaistu 2012