Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Authors: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A. ^{1, 2, 3, 4}, Barry, Brenda J. ^{2, 5}, Chan, Wai-Man ^{1, 2, 3, 4, 5}, MacKinnon, Sarah ^{6, 7}, Whitman, Mary C. ^{1, 6, 7}, Matos Ruiz, Paola M. ², Pratt, Brandon M. ², England, Eleina M. ^{8, 9}, Pais, Lynn ^{8, 9}, Lemire, Gabrielle ^{8, 9}, Groopman, Emily ^{8, 9}, Glaze, Carmen ⁸, Russell, Kathryn A. ⁸, Singer-Berk, Moriel ⁸, Di Gioia, Silvio Alessandro ^{1, 2, 3, 4, 10}, Lee, Arthur S. ^{1, 2, 3, 4}, Andrews, Caroline ², Shaaban, Sherin ^{1, 2, 3, 11}, Wirth, Megan M. ², Bekele, Sarah ², Toffoloni, Melissa ², Bradford, Victoria R. ², Foster, Emma E. ², Berube, Lindsay ², Rivera-Quiles, Cristina ², Mensching, Fiona M. ², Sanchis-Juan, Alba ^{8, 12}, Fu, Jack M. ^{8, 12}, Wong, Isaac ^{8, 12}, Zhao, Xuefang ^{8, 12}, Wilson, Michael W. ⁸, Weisburd, Ben ⁸, Lek, Monkol ⁸, Brand, Harrison ^{8, 12, 13}, Talkowski, Michael E. ^{3, 8, 12}, MacArthur, Daniel G. ⁸, O’Donnell-Luria, Anne ^{8, 9, 12}, Robson, Caroline D. ^{14, 15}, Hunter, David G. ^{6, 7}, Engle, Elizabeth C. ^{1, 2, 3, 4, 5, 6, 7, 9, ∗}

Source: In Genetics in Medicine April 2025 27(4)

Refractive Growth of the Crystalline Lens in the Infant Aphakia Treatment Study

Authors: Lambert, Scott R., DuBois, Lindreth, Nizam, Azhar, Long, Qi, Lynn, Michael J., Bridgman, Betsy, Celano, Marianne, Cleveland, Julia, Cotsonis, George, Drews-Botsch, Carey, Freret, Nana, Lu, Lu, Swanson, Seegar, Tutu-Gxashe, Thandeka, Hartmann, E. Eugenie, Carrigan, Anna K., Edwards, Clara, Busettini, Claudio, Hayley, Samuel, Lewis, Eleanor, Joost Felius, Alicia Kindred, Buckley, Edward G., Plager, David A., Wilson, M. Edward, Drews-Botsch, Carolyn, Everett, Donald F., Felius, Joost, Bozic, Margaret, Holleschau, Ann, Russell, Buddy, Ward, Michael, Bradham, Carol, Vanderveen, Deborah K., Mansfield, Theresa A., Miller, Kathryn Bisceglia, Winter, Tamar, Christiansen, Stephen P., Bothun, Erick D., Jedlicka, Jason, Winters, Patricia, Lang, Jacob, Anderson, Jill S., Traboulsi, Elias I., Crowe, Susan, Cimino, Heather Hasley, Orge, Faruk, Kwiatkowski, Megin, Colon, Beth, Meador, Angela, Yen, Kimberly G., Castanes, Maria, Sanchez, Alma, York, Shirley, Malone, Stacy, Olfson, Margaret, Romany, Gihan, Wheeler, David T., Stout, Ann U., Rauch, Paula, Beaudet, Kimberly, Berg, Pam, Wilson, Lorri, Hutchinson, Amy K., Dubois, Lindreth, Robb, Rachel, Shainberg, Marla J., Freedman, Sharon F., Duncan, Lois, Phillips, B.W., Petrowski, John T., Jones, Sarah, Morrison, David, Owings, Sandy, Biernacki, Ron, Franklin, Christine, Ruark, Scott, Neely, Daniel E., Whitaker, Michele, Bates, Donna, Donaldson, Dana, Kruger, Stacey, Tibi, Charlotte, Vega, Susan, Weakley, David R., Stager, David R., Jr., Dias, Clare, Sager, Debra L., Brantley, Todd, Miller, Bonnie, Lutz, Eva, Davis, Lisa, Hardy, Robert, Birch, Eileen, Cheng, Ken, Hertle, Richard, Kollman, Craig, Yeargin-Allsopp, Marshalyn, McDowell, Cyd, Beck, Allen, McClatchey, Thaddeus S., Morrison, David G., Kruger, Stacey J., Wilson, Lorri B., McClatchey, Scott K.

Source: In Ophthalmology Science December 2022 2(4)

Stereopsis Results at 4.5 Years of Age in the Infant Aphakia Treatment Study

Authors: Lambert, Scott R., DuBois, Lindreth, Lynn, Michael, Bridgman, Betsy, Celano, Marianne, Cleveland, Julia, Cotsonis, George, Drews-Botsch, Carey, Freret, Nana, Lu, Lu, Swanson, Seegar, Tutu-Gxashe, Thandeka, Hartmann, E. Eugenie, Carrigan, Anna K., Edwards, Clara, Busettini, Claudio, Hayley, Samuel, Lewis, Eleanor, Kindred, Alicia, Felius, Joost, Buckley, Edward G., Plager, David A., Wilson, M. Edward, Drews-Botsch, Carolyn, Everett, Donald F., Bozic, Margaret, Holleschau, Ann, Russell, Buddy, Ward, Michael, Bradham, Carol, Vanderveen, Deborah K., Mansfield, Theresa A., Miller, Kathryn Bisceglia, Christiansen, Stephen P., Bothun, Erick D., Jedlicka, Jason, Winters, Patricia, Lang, Jacob, Traboulsi, Elias I., Crowe, Susan, Cimino, Heather Hasley, Orge, Faruk, Kwiatkowski, Megin, Colon, Beth, Yen, Kimberly G., Castanes, Maria, Sanchez, Alma, York, Shirley, Malone, Stacy, Olfson, Margaret, Wheeler, David T., Stout, Ann U., Rauch, Paula, Beaudet, Kimberly, Berg, Pam, Hutchinson, Amy K., Robb, Rachel, Shainberg, Marla J., Freedman, Sharon F., Duncan, Lois, Phillips, B.W., Petrowski, John T., Morrison, David, Owings, Sandy, Biernacki, Ron, Franklin, Christine, Neely, Daniel E., Whitaker, Michele, Bates, Donna, Donaldson, Dana, Kruger, Stacey, Tibi, Charlotte, Vega, Susan, Weakley, David R., Stager, David R., Jr., Dias, Clare, Sager, Debra L., Brantley, Todd, Hardy, Robert, Birch, Eileen, Cheng, Ken, Hertle, Richard, Kollman, Craig, Yeargin-Allsopp, Marshalyn, McDowell, Cyd, Beck, Allen, Lynn, Michael J., Kruger, Stacey J.

Source: In American Journal of Ophthalmology January 2015 159(1):64-70

Complications in the First 5 Years Following Cataract Surgery in Infants With and Without Intraocular Lens Implantation in the Infant Aphakia Treatment Study

Authors: Plager, David A., Lynn, Michael J., Buckley, Edward G., Wilson, M. Edward, Lambert, Scott R., DuBois, Lindreth, Lynn, Michael, Drews-Botsch, Carolyn, Hartmann, E. Eugenie, Everett, Donald F., Russell, Buddy, Ward, Michael, Hardy, Robert, Birch, Eileen, Cheng, Ken, Hertle, Richard, Kollman, Craig, Yeargin-Allsopp, Marshalyn, McDowell, Cyd, Bridgman, Betsy, Celano, Marianne, Cleveland, Julia, Cotsonis, George, Drews-Botsch, Carey, Freret, Nana, Lu, Lu, Swanson, Seegar, Tutu-Gxashe, Thandeka, Busettini, Claudio, Hayley, Samuel, Felius, Joost, Beck, Allen, Carrigan, Anna K., Edwards, Clara, Bozic, Margaret, Vanderveen, Deborah K., Mansfield, Theresa A., Miller, Kathryn Bisceglia, Christiansen, Stephen P., Bothun, Erick D., Holleschau, Ann, Jedlicka, Jason, Winters, Patricia, Lang, Jacob, Traboulsi, Elias I., Crowe, Susan, Cimino, Heather Hasley, Yen, Kimberly G., Castanes, Maria, Sanchez, Alma, York, Shirley, Hutchinson, Amy K., Dubois, Lindreth, Robb, Rachel, Shainberg, Marla J., Wheeler, David T., Stout, Ann U., Rauch, Paula, Beaudet, Kimberly, Berg, Pam, Freedman, Sharon F., Duncan, Lois, Phillips, B.W., Petrowski, John T., Morrison, David, Owings, Sandy, Biernacki, Ron, Franklin, Christine, Neely, Daniel E., Whitaker, Michele, Bates, Donna, Donaldson, Dana, Kruger, Stacey, Tibi, Charlotte, Vega, Susan, Weakley, David R., Stager, David R., Jr., Dias, Clare, Sager, Debra L., Brantley, Todd, Orge, Faruk

Source: In American Journal of Ophthalmology November 2014 158(5):892-898

Myopic Shift at 10-Year Follow-up in the Infant Aphakia Treatment Study

Authors: DuBois, Lindreth, Russell, Buddy, Ward, Michael, Hardy, Robert, Birch, Eileen, Cheng, Ken, Hertle, Richard, Kollman, Craig, Yeargin-Allsopp, Marshalyn, McDowell, Cyd, Everett, Donald F., Long, Qi, Lynn, Michael, Bridgman, Betsy, Celano, Marianne, Cleveland, Julia, Cotsonis, George, Freret, Nana, Lu, Lu, Shenvi, Neeta, Swanson, Seegar, Tutu-Gxashe, Thandeka, Drews-Botsch, Carey, Busettini, Claudio, Hayley, Samuel, Felius, Joost, Beck, Allen, Buckley, Edward G., Plager, David A., Drews-Botsch, Carolyn, Hartmann, E. Eugenie, Hartmann, Eugenie, Carrigan, Anna K., Edwards, Clara, Bozic, Margaret, Mansfield, Theresa A., Miller, Kathryn Bisceglia, Christiansen, Stephen P., Bothun, Erick D., Holleschau, Ann, Jedlicka, Jason, Winters, Patricia, Lang, Jacob, Traboulsi, Elias I., Crowe, Susan, Cimino, Heather Hasley, Yen, Kimberly G., Castanes, Maria, Sanchez, Alma, York, Shirley, Hutchinson, Amy K., Dubois, Lindreth, Robb, Rachel, Shainberg, Marla J., Wheeler, David T., Stout, Ann U., Rauch, Paula, Beaudet, Kimberly, Berg, Pam, Freedman, Sharon F., Duncan, Lois, Phillips, B.W., Petrowski, John T., Morrison, David, Owings, Sandy, Biernacki, Ron, Franklin, Christine, Neely, Daniel E., Whitaker, Michele, Bates, Donna, Donaldson, Dana, Tibi, Charlotte, Vega, Susan, Stager, David R., Jr., Dias, Clare, Sager, Debra L., Brantley, Todd, Orge, Faruk, Weakley, David R., Jr., Nizam, Azhar, VanderVeen, Deborah K., Wilson, M. Edward, Kruger, Stacy, Lambert, Scott R.

Source: In Ophthalmology September 2022 129(9):1064-1065

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Authors: Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., Engle, Elizabeth C.

Source: Genetics in Medicine; 20240101, Issue: Preprints

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OCULAR MANIFESTATIONS OF CHILDREN WITH RARE CHROMOSOME ABNORMALITIES: TRANSLOCATION OF SHORT ARM OF CHROMOSOME 9, TRISOMY 22, AND CHROMOSOME 22 RING.

Authors: Miller, Kathryn Bisceglia, Caruso, Joanne

Source: Optometry & Vision Science; 1995 Supplement, Vol. 72, p44-44, 1p