108 results on '"Zein, Wadih"'
Search Results
2. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study
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D’Souza, Precilla, primary, Farmer, Cristan, additional, Johnston, Jean M., additional, Han, Sangwoo T., additional, Adams, David, additional, Hartman, Adam L., additional, Zein, Wadih, additional, Huryn, Laryssa A., additional, Solomon, Beth, additional, King, Kelly, additional, Jordan, Christopher P., additional, Myles, Jennifer, additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline E., additional, Mojica Algarin, Yoliann, additional, Huang, Reyna, additional, Quimby, Rachel, additional, Zainab, Mosufa, additional, Bowden, Sarah, additional, Crowell, Anna, additional, Buckley, Ashura, additional, Brewer, Carmen, additional, Regier, Debra S., additional, Brooks, Brian P., additional, Acosta, Maria T., additional, Baker, Eva H., additional, Vézina, Gilbert, additional, Thurm, Audrey, additional, and Tifft, Cynthia J., additional
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- 2024
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3. Intrathecal Gene Therapy for Giant Axonal Neuropathy
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Bharucha-Goebel, Diana X., primary, Todd, Joshua J., additional, Saade, Dimah, additional, Norato, Gina, additional, Jain, Minal, additional, Lehky, Tanya, additional, Bailey, Rachel M., additional, Chichester, Jessica A., additional, Calcedo, Roberto, additional, Armao, Diane, additional, Foley, A. Reghan, additional, Mohassel, Payam, additional, Tesfaye, Eshetu, additional, Carlin, Bradley P., additional, Seremula, Beth, additional, Waite, Melissa, additional, Zein, Wadih M., additional, Huryn, Laryssa A., additional, Crawford, Thomas O., additional, Sumner, Charlotte J., additional, Hoke, Ahmet, additional, Heiss, John D., additional, Charnas, Lawrence, additional, Hooper, Jody E., additional, Bouldin, Thomas W., additional, Kang, Elizabeth M., additional, Rybin, Denis, additional, Gray, Steven J., additional, and Bönnemann, Carsten G., additional
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- 2024
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4. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study
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D’Souza, Precilla, primary, Farmer, Cristan, additional, Johnston, Jean, additional, Han, Sangwoo T, additional, Adams, David, additional, Hartman, Adam L., additional, Zein, Wadih, additional, Huryn, Laryssa A., additional, Solomon, Beth, additional, King, Kelly, additional, Jordan, Christopher, additional, Myles, Jennifer, additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline E, additional, Mojica Algarin, Yoliann, additional, Huang, Reyna, additional, Quimby, Rachel, additional, Zainab, Mosufa, additional, Bowden, Sarah, additional, Crowell, Anna, additional, Buckley, Ashura, additional, Brewer, Carmen, additional, Regier, Deborah, additional, Brooks, Brian, additional, Baker, Eva, additional, Vézina, Gilbert, additional, Thurm, Audrey, additional, and Tifft, Cynthia J, additional
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- 2024
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5. The qMini assay identifies an overlooked class of splice variants
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Guan, Bin, primary, Bender, Chelsea, additional, Pantrangi, Madhulatha, additional, Moore, Nia, additional, Reeves, Melissa, additional, Naik, Amelia, additional, Li, Huirong, additional, Goetz, Kerry, additional, Blain, Delphine, additional, Agather, Aime, additional, Cukras, Catherine, additional, Zein, Wadih M., additional, Huryn, Laryssa A., additional, Brooks, Brian P., additional, and Hufnagel, Robert B., additional
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- 2023
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6. RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
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Benson, Matthew D., primary, Mukherjee, Souvick, additional, Agather, Aime R., additional, Blain, Delphine, additional, Cunningham, Denise, additional, Mays, Robert, additional, Sun, Xun, additional, Li, Tiansen, additional, Hufnagel, Robert B., additional, Brooks, Brian P., additional, Huryn, Laryssa A., additional, Zein, Wadih M., additional, and Cukras, Catherine A., additional
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- 2023
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7. Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells
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Manthiram, Kalpana, primary, Xu, Qin, additional, Wu, Zhijie, additional, Bowes, Mary, additional, Gao, Shouguo, additional, Oguz, Cihan, additional, Elkahloun, Abdel, additional, Kalsi, Shelley, additional, Dulau-Florea, Alina, additional, Romeo, Tina, additional, Shi, Lihong, additional, Cassini, Thomas, additional, Deuitch, Natalie, additional, Kirby, Martha, additional, Anderson, Stacie, additional, Bruns, Deborah, additional, Ombrello, Amanda, additional, Barron, Karyl, additional, Remmers, Elaine, additional, Donovan, Frank, additional, Peterson, William, additional, Cochran, Jill, additional, Laxer, Ronald, additional, Greenberg, Jessica, additional, Zein, Wadih, additional, Brooks, Brian, additional, Perazzio, Sandro, additional, Kone-Paut, Isabelle, additional, Al-Mutiari, Nora, additional, Thors, Valtyr Stefánsson, additional, Pálmadóttir, Johanna Guðrún, additional, Aeschlimann, Florence, additional, Quartier, Pierre, additional, Murphy, Karen, additional, Chandrasekarappa, Settara, additional, Torgerson, Troy, additional, Schwartzberg, Pamela L, additional, and Kastner, Daniel, additional
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- 2023
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8. Natural-History of Visual Dysfunction in ABCA4-retinopathy and its Genetic Correlates
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Pfau, Maximilian, primary, Huryn, Laryssa A., additional, Boyle, Marisa P., additional, Cukras, Catherine A., additional, Zein, Wadih M., additional, Turriff, Amy, additional, Ullah, Ehsan, additional, Hufnagel, Robert B., additional, Jeffrey, Brett G., additional, and Brooks, Brian P., additional
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- 2023
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9. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
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Huryn, Laryssa A., primary, Kozycki, Christina Torres, additional, Serpen, Jasmine Y., additional, Zein, Wadih M., additional, Ullah, Ehsan, additional, Iannaccone, Alessandro, additional, Williams, Lloyd B., additional, Sobrin, Lucia, additional, Brooks, Brian P., additional, Sen, H. Nida, additional, Hufnagel, Robert B., additional, Kastner, Daniel L., additional, and Kodati, Shilpa, additional
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- 2023
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10. Supplementary Methods, Figures 1-3, Tables 1-5 from A Phase I Study of PF-04929113 (SNX-5422), an Orally Bioavailable Heat Shock Protein 90 Inhibitor, in Patients with Refractory Solid Tumor Malignancies and Lymphomas
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Rajan, Arun, primary, Kelly, Ronan J., primary, Trepel, Jane B., primary, Kim, Yeong Sang, primary, Alarcon, Sylvia V., primary, Kummar, Shivaani, primary, Gutierrez, Martin, primary, Crandon, Sonja, primary, Zein, Wadih M., primary, Jain, Lokesh, primary, Mannargudi, Baskar, primary, Figg, William D., primary, Houk, Brett E., primary, Shnaidman, Michael, primary, Brega, Nicoletta, primary, and Giaccone, Giuseppe, primary
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- 2023
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11. Supplementary Methods, Figures 1-3, Tables 1-5 from A Phase I Study of PF-04929113 (SNX-5422), an Orally Bioavailable Heat Shock Protein 90 Inhibitor, in Patients with Refractory Solid Tumor Malignancies and Lymphomas
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Rajan, Arun, primary, Kelly, Ronan J., primary, Trepel, Jane B., primary, Kim, Yeong Sang, primary, Alarcon, Sylvia V., primary, Kummar, Shivaani, primary, Gutierrez, Martin, primary, Crandon, Sonja, primary, Zein, Wadih M., primary, Jain, Lokesh, primary, Mannargudi, Baskar, primary, Figg, William D., primary, Houk, Brett E., primary, Shnaidman, Michael, primary, Brega, Nicoletta, primary, and Giaccone, Giuseppe, primary
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- 2023
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12. Variants ofLRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy
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Faridi, Rabia, primary, Yousaf, Rizwan, additional, Gu, Shoujun, additional, Inagaki, Sayaka, additional, Turriff, Amy E., additional, Pelstring, Keith, additional, Guan, Bin, additional, Naik, Amelia, additional, Griffith, Andrew J., additional, Adadey, Samuel Mawuli, additional, Aboagye, Elvis Twumasi, additional, Awandare, Gordon A., additional, Morell, Robert J., additional, Tsilou, Ekaterini, additional, Noyes, Amanda G., additional, Sulmonte, Laura A. G., additional, Wonkam, Ambroise, additional, Schrauwen, Isabelle, additional, Leal, Suzanne M., additional, Azaiez, Hela, additional, Brewer, Carmen C., additional, Riazuddin, Sheikh, additional, Hufnagel, Robert B., additional, Hoa, Michael, additional, Zein, Wadih M., additional, de Dios, J. Karl, additional, and Friedman, Thomas B., additional
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- 2023
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13. Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
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Malechka, Volha V., primary, Duong, Dat, additional, Bordonada, Keyla D., additional, Turriff, Amy, additional, Blain, Delphine, additional, Murphy, Elizabeth, additional, Introne, Wendy J., additional, Gochuico, Bernadette R., additional, Adams, David R., additional, Zein, Wadih M., additional, Brooks, Brian P., additional, Huryn, Laryssa A., additional, Solomon, Benjamin D., additional, and Hufnagel, Robert B., additional
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- 2023
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14. P336: Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis
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Ullah, Ehsan, primary, Guan, Bin, additional, Naik, Amelia, additional, Bender, Chelsea, additional, Al Rawi, Ranya, additional, Blain, Delphine, additional, Agather, Aime, additional, Huryn, Laryssa, additional, Zein, Wadih, additional, Cukras, Catherine, additional, Brooks, Brian, additional, and Hufnagel, Robert, additional
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- 2023
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15. A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome
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Peretz, Ryan H., primary, Zein, Wadih M., additional, Hufnagel, Robert B., additional, Ku, Christine, additional, Godfrey, Rena, additional, Wolfe, Lynne, additional, Adams, David, additional, Gahl, William, additional, and Toro, Camilo, additional
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- 2022
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16. Evolution of focal choroidal excavation in ABCA4-related retinopathy
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Benson, Matthew D., primary, Feldman, Carly B., additional, and Zein, Wadih M., additional
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- 2022
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17. In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells
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Kruczek, Kamil, primary, Qu, Zepeng, additional, Welby, Emily, additional, Shimada, Hiroko, additional, Hiriyanna, Suja, additional, English, Milton A., additional, Zein, Wadih M., additional, Brooks, Brian P., additional, and Swaroop, Anand, additional
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- 2022
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18. Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA)
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Li, Joanne, primary, Aguilera, Nancy, additional, Liu, Tao, additional, Bower, Andrew J., additional, Giannini, John P., additional, Cukras, Catherine, additional, Keenan, Tiarnan D. L., additional, Chew, Emily, additional, Brooks, Brian P., additional, Zein, Wadih M., additional, Huryn, Laryssa A., additional, Hufnagel, Robert B., additional, and Tam, Johnny, additional
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- 2022
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19. Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
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Aguilera, Nancy, primary, Liu, Tao, additional, Bower, Andrew J., additional, Li, Joanne, additional, Abouassali, Sarah, additional, Lu, Rongwen, additional, Giannini, John, additional, Pfau, Maximilian, additional, Bender, Chelsea, additional, Smelkinson, Margery G., additional, Naik, Amelia, additional, Guan, Bin, additional, Schwartz, Owen, additional, Volkov, Andrei, additional, Dubra, Alfredo, additional, Liu, Zhuolin, additional, Hammer, Daniel X., additional, Maric, Dragan, additional, Fariss, Robert, additional, Hufnagel, Robert B., additional, Jeffrey, Brett G., additional, Brooks, Brian P., additional, Zein, Wadih M., additional, Huryn, Laryssa A., additional, and Tam, Johnny, additional
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- 2022
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20. Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
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Liu, Tao, primary, Aguilera, Nancy, additional, Bower, Andrew J., additional, Li, Joanne, additional, Ullah, Ehsan, additional, Dubra, Alfredo, additional, Cukras, Catherine, additional, Brooks, Brian P., additional, Jeffrey, Brett G., additional, Hufnagel, Robert B., additional, Huryn, Laryssa A., additional, Zein, Wadih M., additional, and Tam, Johnny, additional
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- 2022
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21. Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
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Kozycki, Christina Torres, primary, Kodati, Shilpa, additional, Huryn, Laryssa, additional, Wang, Hongying, additional, Warner, Blake M, additional, Jani, Priyam, additional, Hammoud, Dima, additional, Abu-Asab, Mones S, additional, Jittayasothorn, Yingyos, additional, Mattapallil, Mary J, additional, Tsai, Wanxia Li, additional, Ullah, Ehsan, additional, Zhou, Ping, additional, Tian, Xiaoying, additional, Soldatos, Ariane, additional, Moutsopoulos, Niki, additional, Kao-Hsieh, Marie, additional, Heller, Theo, additional, Cowen, Edward W, additional, Lee, Chyi-Chia Richard, additional, Toro, Camilo, additional, Kalsi, Shelley, additional, Khavandgar, Zohreh, additional, Baer, Alan, additional, Beach, Margaret, additional, Long Priel, Debra, additional, Nehrebecky, Michele, additional, Rosenzweig, Sofia, additional, Romeo, Tina, additional, Deuitch, Natalie, additional, Brenchley, Laurie, additional, Pelayo, Eileen, additional, Zein, Wadih, additional, Sen, Nida, additional, Yang, Alexander H, additional, Farley, Gary, additional, Sweetser, David A, additional, Briere, Lauren, additional, Yang, Janine, additional, de Oliveira Poswar, Fabiano, additional, Schwartz, Ida Vanessa D, additional, Silva Alves, Tamires, additional, Dusser, Perrine, additional, Koné-Paut, Isabelle, additional, Touitou, Isabelle, additional, Titah, Salah Mohamed, additional, van Hagen, Petrus Martin, additional, van Wijck, Rogier T A, additional, van der Spek, Peter J, additional, Yano, Hiromi, additional, Benneche, Andreas, additional, Apalset, Ellen M, additional, Jansson, Ragnhild Wivestad, additional, Caspi, Rachel R, additional, Kuhns, Douglas Byron, additional, Gadina, Massimo, additional, Takada, Hidetoshi, additional, Ida, Hiroaki, additional, Nishikomori, Ryuta, additional, Verrecchia, Elena, additional, Sangiorgi, Eugenio, additional, Manna, Raffaele, additional, Brooks, Brian P, additional, Sobrin, Lucia, additional, Hufnagel, Robert B, additional, Beck, David, additional, Shao, Feng, additional, Ombrello, Amanda K, additional, Aksentijevich, Ivona, additional, and Kastner, Daniel L, additional
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- 2022
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22. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
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Huryn, Laryssa A, primary, Flaherty, Taylor, additional, Nolen, Rosalie, additional, Prasov, Lev, additional, Zein, Wadih M, additional, Cukras, Catherine A, additional, Osgood, Sharon, additional, Raja, Neelam, additional, Levin, Mark D, additional, Vitale, Susan, additional, Brooks, Brian P, additional, Hufnagel, Robert B, additional, and Kozel, Beth A, additional
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- 2022
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23. Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
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Malechka, Volha V., primary, Cukras, Catherine A., additional, Chew, Emily Y., additional, Sergeev, Yuri V., additional, Blain, Delphine, additional, Jeffrey, Brett G., additional, Ullah, Ehsan, additional, Hufnagel, Robert B., additional, Brooks, Brian P., additional, Huryn, Laryssa A., additional, and Zein, Wadih M., additional
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- 2022
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24. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
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Corradi, Zelia, primary, Salameh, Manar, additional, Khan, Mubeen, additional, Héon, Elise, additional, Mishra, Ketan, additional, Hitti-Malin, Rebekkah J., additional, AlSwaiti, Yahya, additional, Aslanian, Alice, additional, Banin, Eyal, additional, Brooks, Brian P., additional, Zein, Wadih M., additional, Hufnagel, Robert B., additional, Roosing, Susanne, additional, Dhaenens, Claire‐Marie, additional, Sharon, Dror, additional, Cremers, Frans P. M., additional, and AlTalbishi, Alaa, additional
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- 2022
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25. Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
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Forsyth, RaeLynn, primary, Parisi, Melissa A., additional, Altintas, Burak, additional, Malicdan, May Christine, additional, Vilboux, Thierry, additional, Knoll, Jasmine, additional, Brooks, Brian P., additional, Zein, Wadih M., additional, Gahl, William A., additional, Toro, Camilo, additional, and Gunay‐Aygun, Meral, additional
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- 2022
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26. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
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Pfau, Maximilian, primary, Cukras, Catherine A., additional, Huryn, Laryssa A., additional, Zein, Wadih M., additional, Ullah, Ehsan, additional, Boyle, Marisa P., additional, Turriff, Amy, additional, Chen, Michelle A., additional, Hinduja, Aarti S., additional, Siebel, Hermann E.A., additional, Hufnagel, Robert B., additional, Jeffrey, Brett G., additional, and Brooks, Brian P., additional
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- 2022
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27. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
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Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional
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- 2021
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28. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
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Sethna, Saumil, primary, Zein, Wadih M, additional, Riaz, Sehar, additional, Giese, Arnaud PJ, additional, Schultz, Julie M, additional, Duncan, Todd, additional, Hufnagel, Robert B, additional, Brewer, Carmen C, additional, Griffith, Andrew J, additional, Redmond, T Michael, additional, Riazuddin, Saima, additional, Friedman, Thomas B, additional, and Ahmed, Zubair M, additional
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- 2021
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29. MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME
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Maldonado, Ramiro S., primary, Zein, Wadih M., additional, and Cukras, Catherine, additional
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- 2021
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30. Author response: Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
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Sethna, Saumil, primary, Zein, Wadih M, additional, Riaz, Sehar, additional, Giese, Arnaud PJ, additional, Schultz, Julie M, additional, Duncan, Todd, additional, Hufnagel, Robert B, additional, Brewer, Carmen C, additional, Griffith, Andrew J, additional, Redmond, T Michael, additional, Riazuddin, Saima, additional, Friedman, Thomas B, additional, and Ahmed, Zubair M, additional
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- 2021
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31. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
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Ravenscroft, Thomas A., primary, Phillips, Jennifer B., additional, Fieg, Elizabeth, additional, Bajikar, Sameer S., additional, Peirce, Judy, additional, Wegner, Jeremy, additional, Luna, Alia A., additional, Fox, Eric J., additional, Yan, Yi-Lin, additional, Rosenfeld, Jill A., additional, Zirin, Jonathan, additional, Kanca, Oguz, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Agrawal, Pankaj B., additional, Alejandro, Mercedes E., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanya, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Findley, Laurie C., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldrich, Madison P., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gutierrez, Irma, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Huryn, Laryssa, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Karaviti, Lefkothea, additional, Kennedy, Jennifer, additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, LaMoure, Grace L., additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Latham, Lea, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacDowall, John, additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Mak, Bryan C., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Moretti, Paolo M., additional, Mosbrook-Davis, Deborah, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nagy, Anna, additional, Nakano-Okuno, Mariko, additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina GS., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Power, Bradley, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C. Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shashi, Vandana, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Jennifer A., additional, Sullivan, Kathleen, additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Amelia L.M., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Thurm, Audrey, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yousef, Muhammad, additional, Zastrow, Diane B., additional, Zein, Wadih, additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Benke, Paul J., additional, Cameron, Eric S., additional, Strehlow, Vincent, additional, Platzer, Konrad, additional, Jamra, Rami Abou, additional, Klöckner, Chiara, additional, Osmond, Matthew, additional, Licata, Thomas, additional, Rojas, Samantha, additional, Dyment, David, additional, Chong, Josephine S.C., additional, Lincoln, Sharyn, additional, Postlethwait, John H., additional, Krier, Joel, additional, and Bellen, Hugo J., additional
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- 2021
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32. Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images
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Liu, Jianfei, primary, Shen, Christine, additional, Aguilera, Nancy, additional, Cukras, Catherine, additional, Hufnagel, Robert B., additional, Zein, Wadih M., additional, Liu, Tao, additional, and Tam, Johnny, additional
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- 2021
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33. AAPOS Genetic Eye Disease Committee Workshop—hiding in plain sight: genetic disorders in routine pediatric practice
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Dumitrescu, Alina V., primary, Utz, Virginia Miraldi, additional, Whitman, Mary C., additional, Alcorn, Deborah, additional, Couser, Natario L., additional, Khan, Arif O., additional, Levin, Alex V., additional, Lloyd, I. Christopher, additional, Schmitt, Melanie A., additional, Zein, Wadih M., additional, Nagiel, Aaron, additional, Haider, Kathryn M., additional, Doyle, Jefferson J., additional, Zeid, Janice Lasky, additional, and Drack, Arlene V., additional
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- 2021
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34. Phenotypic and genetic differences of autosomal recessive bestrophinopathy and Best vitelliform macular dystrophy
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Pfister, Tyler, primary, Zein, Wadih, additional, Sen, Hatice, additional, Maldonado, Ramiro, additional, Huryn, Laryssa, additional, Cukras, Cathy, additional, and Hufnagel, Robert, additional
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- 2021
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35. Severity modeling of propionic acidemia using clinical and laboratory biomarkers
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Shchelochkov, Oleg A., primary, Manoli, Irini, additional, Juneau, Paul, additional, Sloan, Jennifer L., additional, Ferry, Susan, additional, Myles, Jennifer, additional, Schoenfeld, Megan, additional, Pass, Alexandra, additional, McCoy, Samantha, additional, Van Ryzin, Carol, additional, Wenger, Olivia, additional, Levin, Mark, additional, Zein, Wadih, additional, Huryn, Laryssa, additional, Snow, Joseph, additional, Chlebowski, Colby, additional, Thurm, Audrey, additional, Kopp, Jeffrey B., additional, Chen, Kong Y., additional, and Venditti, Charles P., additional
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- 2021
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- View/download PDF
36. PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
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Xiao, Changrui, primary, Markello, Thomas, additional, Zein, Wadih M., additional, Bishop, Rachel, additional, Groden, Catherine, additional, Gahl, William, additional, and Toro, Camilo, additional
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- 2021
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37. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
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Igelman, Austin D., primary, Ku, Cristy, additional, da Palma, Mariana Matioli, additional, Georgiou, Michalis, additional, Schiff, Elena R., additional, Lam, Byron L., additional, Sankila, Eeva-Marja, additional, Ahn, Jeeyun, additional, Pyers, Lindsey, additional, Vincent, Ajoy, additional, Ferraz Sallum, Juliana Maria, additional, Zein, Wadih M., additional, Oh, Jin Kyun, additional, Maldonado, Ramiro S., additional, Ryu, Joseph, additional, Tsang, Stephen H., additional, Gorin, Michael B., additional, Webster, Andrew R., additional, Michaelides, Michel, additional, Yang, Paul, additional, and Pennesi, Mark E., additional
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- 2021
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38. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
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da Palma, Mariana Matioli, primary, Igelman, Austin D., additional, Ku, Cristy, additional, Burr, Amanda, additional, You, Jia Yue, additional, Place, Emily M., additional, Wang, Nan-Kai, additional, Oh, Jin Kyun, additional, Branham, Kari E., additional, Zhang, Xinxin, additional, Ahn, Jeeyun, additional, Gorin, Michael B., additional, Lam, Byron L., additional, Ronquillo, Cecinio C., additional, Bernstein, Paul S., additional, Nagiel, Aaron, additional, Huckfeldt, Rachel, additional, Cabrera, Michelle T., additional, Kelly, John P., additional, Bakall, Benjamin, additional, Iannaccone, Alessandro, additional, Hufnagel, Robert B., additional, Zein, Wadih M., additional, Koenekoop, Robert K., additional, Birch, David G., additional, Yang, Paul, additional, Fahim, Abigail T., additional, and Pennesi, Mark E., additional
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- 2021
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39. Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
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Bharucha-Goebel, Diana X, primary, Norato, Gina, additional, Saade, Dimah, additional, Paredes, Eduardo, additional, Biancavilla, Victoria, additional, Donkervoort, Sandra, additional, Kaur, Rupleen, additional, Lehky, Tanya, additional, Fink, Margaret, additional, Armao, Diane, additional, Gray, Steven J, additional, Waite, Melissa, additional, Debs, Sarah, additional, Averion, Gilberto, additional, Hu, Ying, additional, Zein, Wadih M, additional, Foley, A Reghan, additional, Jain, Minal, additional, and Bönnemann, Carsten G, additional
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- 2021
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40. Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse
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Sethna, Saumil, primary, Zein, Wadih M., additional, Riaz, Sehar, additional, Giese, Arnaud P. J., additional, Schultz, Julie M., additional, Duncan, Todd, additional, Hufnagel, Robert B., additional, Brewer, Carmen C., additional, Griffith, Andrew J., additional, Redmond, T. Michael, additional, Riazuddin, Saima, additional, Friedman, Thomas B., additional, and Ahmed, Zubair M., additional
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- 2021
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41. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
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Pfister, Tyler A., primary, Zein, Wadih M., additional, Cukras, Catherine A., additional, Sen, Hatice N., additional, Maldonado, Ramiro S., additional, Huryn, Laryssa A., additional, and Hufnagel, Robert B., additional
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- 2021
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42. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
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Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional
- Published
- 2021
- Full Text
- View/download PDF
43. Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency
- Author
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Manoli, Irini, primary, Yano, Sho, additional, Sloan, Jennifer, additional, Zein, Wadih, additional, Huryn, Laryssa, additional, Snow, Joseph, additional, Thurm, Audrey, additional, Van Ryzin, Carol, additional, Ferry, Susan, additional, Myles, Jennifer, additional, Shchelochkov, Oleg, additional, Brooks, Brian, additional, and Venditti, Charles, additional
- Published
- 2021
- Full Text
- View/download PDF
44. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
- Author
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Schoch, Kelly, primary, Esteves, Cecilia, additional, Bican, Anna, additional, Spillmann, Rebecca, additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Walley, Nicole, additional, Fernandez, Liliana, additional, Kohler, Jennefer N., additional, Bonner, Devon, additional, Reuter, Chloe, additional, Stong, Nicholas, additional, Mulvihill, John J., additional, Novacic, Donna, additional, Wolfe, Lynne, additional, Abdelbaki, Ayat, additional, Toro, Camilo, additional, Tifft, Cyndi, additional, Malicdan, May, additional, Gahl, William, additional, Liu, Pengfei, additional, Newman, John, additional, Goldstein, David B., additional, Hom, Jason, additional, Sampson, Jacinda, additional, Wheeler, Matthew T., additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J.Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J.Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C.Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Coakley, Terra R., additional, Fisher, Paul G., additional, Fresard, Laure, additional, Huang, Yong, additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Brokamp, Elly, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, and Cogan, Joy, additional
- Published
- 2021
- Full Text
- View/download PDF
45. Ocular and Systemic Findings in Adults with Uveal Coloboma
- Author
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Daich Varela, Malena, primary, Huryn, Laryssa A., additional, Hufnagel, Robert B., additional, Zein, Wadih M., additional, Blain, Delphine, additional, and Brooks, Brian P., additional
- Published
- 2020
- Full Text
- View/download PDF
46. Ocular Manifestations of Syndromes with Craniofacial Abnormalities
- Author
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Zein, Wadih M., primary, Lewanda, Amy Feldman, additional, Traboulsi, Elias I., additional, and Jabs, Ethylin Wang, additional
- Published
- 2012
- Full Text
- View/download PDF
47. Inheritance of Refractive Errors
- Author
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Zein, Wadih M., primary and Drack, Arlene V., additional
- Published
- 2012
- Full Text
- View/download PDF
48. Serum Biomarkers and Trafficking Defects in Peripheral Tissues Reflect the Severity of Retinopathy in Three Brothers Affected by Choroideremia
- Author
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Strunnikova, Natalia, primary, Zein, Wadih M., additional, Silvin, Chris, additional, and MacDonald, Ian M., additional
- Published
- 2011
- Full Text
- View/download PDF
49. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome
- Author
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Wafa, Talah T., primary, Faridi, Rabia, additional, King, Kelly A., additional, Zalewski, Christopher, additional, Yousaf, Rizwan, additional, Schultz, Julie M., additional, Morell, Robert J., additional, Muskett, Julie, additional, Turriff, Amy, additional, Tsilou, Ekaterini, additional, Griffith, Andrew J., additional, Friedman, Thomas B., additional, Zein, Wadih M., additional, and Brewer, Carmen C., additional
- Published
- 2020
- Full Text
- View/download PDF
50. Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
- Author
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Serpen, Jasmine Y., primary, Prasov, Lev, additional, Zein, Wadih M., additional, Cukras, Catherine A., additional, Cunningham, Denise, additional, Murphy, Elizabeth C., additional, Turriff, Amy, additional, Brooks, Brian P., additional, and Huryn, Laryssa A., additional
- Published
- 2020
- Full Text
- View/download PDF
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