未登录 A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michae; Wagner, Matia; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; Mcdonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racirie, Carolin; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
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FOXI3 pathogenic variants cause one form of craniofacial microsomia Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E. 分享 收藏
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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system TMEM161B在发育中的中枢神经系统中调节大脑皮层回旋，声波刺猬信号和睫状结构 Akula, Shyam K.; Marciano, Jack H.; Lim, Youngshin; Exposito-Alonso, David; Hylton, Norma K.; Hwang, Grace H.; Neil, Jennifer E.; Dominado, Nicole; Bunton-Stasyshyn, Rosie K.; Song, Janet H. T.; Talukdar, Maya; Schmid, Aloisia; Teboul, Lydia; Mo, Alisa; Shin, Taehwan; Finander, Benjamin; Beck, Samantha G.; Yeh, Rebecca C.; Otani, Aoi; Qian, Xuyu; DeGennaro, Ellen M.; Alkuraya, Fowzan S.; Maddirevula, Sateesh; Cascino, Gregory D.; Giannini, Caterina; Undiagnosed Diseases Network, Lindsay C.; Burrage, Lindsay C.; Rosenfield, Jill A.; Ketkar, Shamika; Clark, Gary D.; Bacino, Carlos; Lewis, Richard A.; Segal, Rosalind A.; Bazan, J. Fernando; Smith, Kelly A.; Golden, Jeffrey A.; Cho, Ginam; Walsh, Christopher A. 分享 收藏
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Biocompatibility and feasibility of VisiPlate, a novel ultrathin, multichannel glaucoma drainage device Kao, Brandon W.; Meer, Elana; Barbolt, Thomas A.; Lewis, Richard A.; Ahmed, Iqbal Ike; Lee, Vivian; Nicaise, Samuel M.; Griggs, Georgia; Miller-Ellis, Eydie G. 分享 收藏
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy Kousi, Maria; Soylemez, Onuralp; Ozanturk, Aysegul; Mourtzi, Niki; Akle, Sebastian; Jungreis, Irwin; Muller, Jean; Cassa, Christopher A.; Brand, Harrison; Mokry, Jill Anne; Wolf, Maxim Y.; Sadeghpour, Azita; McFadden, Kelsey; Lewis, Richard A.; Talkowski, Michael E.; Dollfus, Helene; Kellis, Manolis; Davis, Erica E.; Sunyaev, Shamil R.; Katsanis, Nicholas 分享 收藏
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24-Month Phase I/II Clinical Trial of Bimatoprost Sustained-Release Implant (Bimatoprost SR) in Glaucoma Patients Craven, E. Randy; Walters, Thomas; Christie, William C.; Day, Douglas G.; Lewis, Richard A.; Goodkin, Margot L.; Chen, Michelle; Wangsadipura, Veronica; Robinson, Michael R.; Bejanian, Marina; Aung, Tin; Beck, Allen D.; Branch, James D.; Christie, William C.; Coote, Michael; Crane, Charles J.; Craven, E. Randy; Crichton, Andrew; Day, Douglas G.; Day, Steven; Durcan, F. Jane; Evans, Richard M.; Flynn, William J.; Gagne, Sebastien; Goldberg, Damien F.; Greiner, Jack V.; Jeppsen, Paul; Jinapriya, Delan; Johnson, C. Starck; Kurtz, Shimon; Lewis, Richard A.; Mansberger, Steven L.; Martel, Joseph R.; Perera, Shamira A.; Rotberg, Michael H.; Saltzmann, Robert M.; Schenker, Howard I.; Tepedino, Michael E.; Yap-Veloso, Maria Imelda R.; Uy, Harvey S.; Walters, Thomas R. 分享 收藏
Netarsudil/Latanoprost Fixed-Dose Combination for Elevated Intraocular Pressure: Three-Month Data from a Randomized Phase 3 Trial Asrani, Sanjay; Robin, Alan L.; Serle, Janet B.; Lewis, Richard A.; Usner, Dale W.; Kopczynski, Casey C.; Heah, Theresa; Ackerman, Stacey L.; Alpern, Louis M.; Bashford, Kent; Bluestein, Ettaleah C.; Boyce, James D.; Branch, James D.; Brubaker, Jacob W.; Christie, William C.; Cohen, John S.; Collins, Nicole M.; Corin, Scott M.; Daynes, Todd Ellsworth; Depenbusch, Michael; Dixon, El-Roy; Duzman, Eran; Flowers, Brian E.; Flynn, William J.; Fong, Raymond; Gira, Joseph P.; Goldberg, Damien F.; Greene, Brennan; Han, Scott B.; Henderson, Thomas T.; Jerkins, Gary; Jong, Kevin Y.; Katzen, Lawrence B.; Khemsara, Vickas; Klugo, Karen L.; Kozlovsky, John F.; Leonardo, Donna; Liu, Yao; LoBue, Thomas D.; Luchs, Jodi Ian; Malhotra, Ranjan P.; Mays, Andrew; McLaurin, Eugene B.; McMenemy, Matthew G.; Modi, Satish; Moroi, Sayoko; Mulaney, Jay; Nagi, Kundandeep; Nicolau, John; Parikh, Mihir; Patel, Jay R.; Peplinski, Lee S.; Perez, Bernard R.; Piltz-Seymour, Jody; Sadri, Ehsan; Saltzmann, Robert M.; Schenker, Howard I.; Swank, Matthew J.; Tekwani, Navin; Teymoorian, Savak; Thomas, Justus W.; Tyson, Farrell C.; Vold, Stephen; Weiss, Mark J.; Zaman, Fiaz 分享 收藏
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity Chen, Chun-An; Wang, Wei; Pedersen, Steen E.; Raman, Ayush; Seymour, Michelle L.; Ruiz, Fernanda R.; Xia, Anping; van der Heijden, Meike E.; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E.; Lewis, Richard A.; Wu, Samuel M.; Liu, Zhandong; Pereira, Fred A.; Pautler, Robia G.; Zoghbi, Huda Y.; Schaaf, Christian P. 分享 收藏
Once-Daily Netarsudil Versus Twice-Daily Timolol in Patients With Elevated Intraocular Pressure: The Randomized Phase 3 ROCKET-4 Study Khouri, Albert S.; Serle, Janet B.; Bacharach, Jason; Usner, Dale W.; Lewis, Richard A.; Braswell, Puiwah; Kopczynski, Casey C.; Heah, Theresa; Bacharach, Jason; Benza, Robert; Boyle, John W.; Butler, Michelle; Cacioppo, Leonard Robert; Cardona, Jose F.; Colborn, Valerie A.; Day, Douglas G.; Douglass, David T.; El-Harazi, Sherif M.; Ghate, Deepta; Hartman, Carl; Haverly, Robert F.; Katzman, Barry; Kim, Max; Koo, Edward Y.; Korenfeld, Michael S.; Kwapiszeski, Bradley; Lane, Lydia; Lin, Christopher; Logan, Andrew Gardner; Lozier, Jeffrey Raymond; McQuirter, Henry; Mundorf, Thomas K.; Olander, Kenneth; Ou, Richard J.; Panzo, Gregory J.; Peace, James H.; Protzko, Eugene E.; Ritch, Robert; Sall, Kenneth; Schechter, Barry A.; Seltzer, Samuel Eric; Shah, Pankajkumar G.; Sharpe, Elizabeth; Shettle, Philip Lee; Shulman, David G.; Singh, Inder Paul; Smith, Stacy R.; Smith, Stephen E.; Smyth-Medina, Robert John; Sorenson, Robert C.; Sturm, Richard; Sulkowski, Gregory M.; Sutton, James D.; Tepedino, Michael; Tsai, Julie; Tubbs, Carl B.; Tukel, David B.; Walters, Thomas Richard; Wirta, David L. 分享 收藏
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome Poli, M. Cecilia; Ebstein, Frederic; Nicholas, Sarah K.; de Guzman, Marietta M.; Forbes, Lisa R.; Chinn, Ivan K.; Mace, Emily M.; Vogel, Tiphanie P.; Carisey, Alexandre F.; Benavides, Felipe; Coban-Akdemir, Zeynep H.; Gibbs, Richard A.; Jhangiani, Shalini N.; Muzny, Donna M.; Carvalho, Claudia M. B.; Schady, Deborah A.; Jain, Mahim; Rosenfeld, Jill A.; Emrick, Lisa; Lewis, Richard A.; Lee, Brendan; Zieba, Barbara A.; Kury, Sebastien; Krueger, Elke; Lupski, James R.; Bostwick, Bret L.; Orange, Jordan S. 分享 收藏
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The phenotypic variability of HK1-associated retinal dystrophy Yuan, Zhisheng; Li, Baiyu; Xu, Mingchu; Chang, Emmanuel Y.; Li, Huajin; Yang, Lizhu; Wu, Shijing; Soens, Zachry T.; Li, Yumei; Wong, Lee-Jun C.; Lewis, Richard A.; Sui, Ruifang; Chen, Rui 分享 收藏
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations (vol 18, pg 1143, 2016) Chen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, Christian 分享 收藏
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