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Webb, Bryn D. ; Jurgens, Julie A. ; Narisu, Narisu ; Zhang, Zhongyang ; Barry, Brenda J. ; Van Ryzin, Carol ; Bonnycastle, Lori L. ; Chan, Wai-Man ; Yan, Tingfen ; Di Gioia, Silvio Alessandro ; Swift, Amy J. ; MacKinnon, Sarah E. ; Oystreck, Darren T. ; Rucker, Janet C. ; Frempong, Tamiesha ; Whitman, Mary C. ; FitzGibbon, Edmond J. ; Lee, Janice S. ; Hao, Ke ; Andrews, Caroline ; Erazo, Monica ; Facio, Flavia M. ; Shaaban, Sherin ; Naidich, Thomas P. ; Chines, Peter S. ; Lehky, Tanya J. ; Toro, Camilo ; Gropman, Andrea L. ; Butman, John A. ; Zalewski, Christopher K. ; Brewer, Carmen C. ; Thurm, Audrey ; Snow, Joseph ; Paul, Scott M. ; Brooks, Brian P. ; Pierpaoli, Carlo ; Robson, Caroline D. ; Hunter, David G. ; Collins, Francis S. ; Jabs, Ethylin Wang ; Engle, Elizabeth C. ; Manoli, Irini

In Genetics in Medicine Open May 2025

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. ; 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 ; Brand, Harrison ; Talkowski, Michael E. ; MacArthur, Daniel G. ; O’Donnell-Luria, Anne ; Robson, Caroline D. ; Hunter, David G. ; Engle, Elizabeth C.

In Genetics in Medicine July 2024

Peter, Virginie G. ; Quinodoz, Mathieu ; Pinto-Basto, Jorge ; Sousa, Sergio B. ; Di Gioia, Silvio Alessandro ; Soares, Gabriela ; Ferraz Leal, Gabriela ; Silva, Eduardo D. ; Pescini Gobert, Rosanna ; Miyake, Noriko ; Matsumoto, Naomichi ; Engle, Elizabeth C. ; Unger, Sheila ; Shapiro, Frederic ; Superti-Furga, Andrea ; Rivolta, Carlo ; Campos-Xavier, Belinda

In Genetics in Medicine December 2019 21(12):2734-2743

Nishiguchi, Koji M. ; Avila-Fernandez, Almudena ; van Huet, Ramon A.C. ; Corton, Marta ; Pérez-Carro, Raquel ; Martín-Garrido, Esther ; López-Molina, María Isabel ; Blanco-Kelly, Fiona ; Hoefsloot, Lies H. ; van Zelst-Stams, Wendy A. ; García-Ruiz, Pedro J. ; del Val, Javier ; Di Gioia, Silvio Alessandro ; Klevering, B. Jeroen ; van de Warrenburg, Bart P.C. ; Vazquez, Carlos ; Cremers, Frans P.M. ; García-Sandoval, Blanca ; Hoyng, Carel B. ; Collin, Rob W.J. ; Rivolta, Carlo ; Ayuso, Carmen

In Ophthalmology August 2014 121(8):1620-1627

Di Gioia, Silvio Alessandro ; Shaaban, Sherin ; Tüysüz, Beyhan ; Elcioglu, Nursel H. ; Chan, Wai-Man ; Robson, Caroline D. ; Ecklund, Kirsten ; Gilette, Nicole M. ; Hamzaoglu, Azmi ; Tayfun, Gulsen Akay ; Traboulsi, Elias I. ; Engle, Elizabeth C.

In The American Journal of Human Genetics 5 July 2018 103(1):115-124

Jurgens, Julie A.; Ruiz, Paola M. Matos; King, Jessica; Foster, Emma E.; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J.; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C.; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M.; Easterbrooks, Teresa; Mensching, Fiona M.; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M.; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G.; Robson, Caroline D.; Bulyk, Martha L.; Engle, Elizabeth C.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; MAR 2025, 66 3, p62 18p.

Quinodoz, Mathieu ; Royer-Bertrand, Beryl ; Cisarova, Katarina ; Di Gioia, Silvio Alessandro ; Superti-Furga, Andrea ; Rivolta, Carlo

In The American Journal of Human Genetics 5 October 2017 101(4):623-629

Kosmicki, Jack A.; Marcketta, Anthony; Sharma, Deepika; Di Gioia, Silvio Alessandro; Batista, Samantha; Yang, Xiao-Man; Tzoneva, Gannie; Martinez, Hector; Sidore, Carlo; Kessler, Michael D.; Horowitz, Julie E.; Roberts, Genevieve H. L.; Justice, Anne E.; Banerjee, Nilanjana; Coignet, Marie V.; Leader, Joseph B.; Park, Danny S.; Lanche, Rouel; Maxwell, Evan; Knight, Spencer C.; Bai, Xiaodong; Guturu, Harendra; Baltzell, Asher; Girshick, Ahna R.; McCurdy, Shannon R.; Partha, Raghavendran; Mansfield, Adam J.; Turissini, David A.; Zhang, Miao; Mbatchou, Joelle; Watanabe, Kyoko; Verma, Anurag; Sirugo, Giorgio; Ritchie, Marylyn D.; Salerno, William J.; Shuldiner, Alan R.; Rader, Daniel J.; Mirshahi, Tooraj; Marchini, Jonathan; Overton, John D.; Carey, David J.; Habegger, Lukas; Reid, Jeffrey G.; Economides, Aris; Kyratsous, Christos; Karalis, Katia; Baum, Alina; Cantor, Michael N.; Rand, Kristin A.; Hong, Eurie L.; Ball, Catherine A.; Siminovitch, Katherine; Baras, Aris; Abecasis, Goncalo R.; Ferreira, Manuel A. R.

Nature Genetics. 56(8):1592-1596

Nikopoulos, Konstantinos ; Farinelli, Pietro ; Giangreco, Basilio ; Tsika, Chrysanthi ; Royer-Bertrand, Beryl ; Mbefo, Martial K. ; Bedoni, Nicola ; Kjellström, Ulrika ; El Zaoui, Ikram ; Di Gioia, Silvio Alessandro ; Balzano, Sara ; Cisarova, Katarina ; Messina, Andrea ; Decembrini, Sarah ; Plainis, Sotiris ; Blazaki, Styliani V. ; Khan, Muhammad Imran ; Micheal, Shazia ; Boldt, Karsten ; Ueffing, Marius ; Moulin, Alexandre P. ; Cremers, Frans P.M. ; Roepman, Ronald ; Arsenijevic, Yvan ; Tsilimbaris, Miltiadis K. ; Andréasson, Sten ; Rivolta, Carlo

In The American Journal of Human Genetics 1 September 2016 99(3):770-776

Park, Jong G. ; Tischfield, Max A. ; Nugent, Alicia A. ; Cheng, Long ; Di Gioia, Silvio Alessandro ; Chan, Wai-Man ; Maconachie, Gail ; Bosley, Thomas M. ; Summers, C. Gail ; Hunter, David G. ; Robson, Caroline D. ; Gottlob, Irene ; Engle, Elizabeth C.

In The American Journal of Human Genetics 2 June 2016 98(6):1220-1227

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; et al; Ocular CCCDD Phenotyping Consortium; Gerth-Kahlert, Christina

Praveen, Kavita; Patel, Gaurang C.; Gurski, Lauren; Ayer, Ariane H.; Persaud, Trikaladarshi; Still, Matthew D.; Miloscio, Lawrence; Van Zyl, Tavé; Di Gioia, Silvio Alessandro; Brumpton, Ben; Krebs, Kristi; Åsvold, Bjørn Olav; Chen, Esteban; Chavali, Venkata R. M.; Fury, Wen; Gudiseva, Harini V.; Hyde, Sarah; Jorgenson, Eric; Lefebvre, Stephanie; Li, Dadong

Communications Biology. 10/3/2022, Vol. 5 Issue 1, p1-15. 15p.

Natera‐de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai‐Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hunter, David G.; Feng, Lucy; Ledoux, Danielle; O'Donnell‐Luria, Anne

Human Mutation; Apr2022, Vol. 43 Issue 4, p487-498, 12p

Venturini, Giulia; Di Gioia, Silvio Alessandro; Harper, Shyana; Weigel-DiFranco, Carol; Rivolta, Carlo; Berson, Eliot L.

PLoS ONE. Mar2014, Vol. 9 Issue 3, p1-7. 7p.

Tenney, Alan P.; Di Gioia, Silvio Alessandro; Webb, Bryn D.; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J.; Barry, Brenda J.; Ray, Tammy; Kosicki, Michael; Robson, Caroline D.; Zhang, Zhongyang; Collins, Thomas E.; Gelber, Alon; Pratt, Brandon M.; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E.; Van Ryzin, Carol; Lehky, Tanya J.; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen C.; Thurm, Audrey; Snow, Joseph; Facio, Flavia M.; Narisu, Narisu; Bonnycastle, Lori L.; Swift, Amy; Chines, Peter S.; Bell, Jessica L.; Mohan, Suresh; Whitman, Mary C.; Staffieri, Sandra E.; Elder, James E.; Demer, Joseph L.; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A.; Brady, Angela F.; Fenollar-Cortés, María; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W.; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H.; Parker, Stephen C. J.; Hadlock, Tessa A.; Vissers, Lisenka E. L. M.; van Bokhoven, Hans; Jabs, Ethylin Wang; Collins, Francis S.; Pennacchio, Len A.; Manoli, Irini; Engle, Elizabeth C.

Nature Genetics. 55(7):1149-1163

Langmann, Thomas ; Di Gioia, Silvio Alessandro ; Rau, Isabella ; Stöhr, Heidi ; Maksimovic, Nela S. ; Corbo, Joseph C. ; Renner, Agnes B. ; Zrenner, Eberhart ; Kumaramanickavel, Govindasamy ; Karlstetter, Marcus ; Arsenijevic, Yvan ; Weber, Bernhard H.F. ; Gal, Andreas ; Rivolta, Carlo

In The American Journal of Human Genetics 10 September 2010 87(3):376-381

Miller BR; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Systems Neuroscience, New York State Psychiatric Institute, New York, NY 10032.; Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591.; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, 76230, Querétaro, Mexico.; Brigatti KW; Clinic for Special Children, Gordonville, PA 17529.; de Jong J; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY 10032.; Breese RS; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Ko SY; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Systems Neuroscience, New York State Psychiatric Institute, New York, NY 10032.; Puffenberger EG; Clinic for Special Children, Gordonville, PA 17529.; Van Hout C; Regeneron Genetics Center, Tarrytown, NY 10591.; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, 76230, Querétaro, Mexico.; Young M; Clinic for Special Children, Gordonville, PA 17529.; Luna VM; Department of Neural Sciences, Alzheimer's Center at Temple, Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140.; Staples J; Regeneron Genetics Center, Tarrytown, NY 10591.; First MB; Department of Psychiatry, Columbia University, New York, NY 10032.; Gregoire HJ; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Systems Neuroscience, New York State Psychiatric Institute, New York, NY 10032.; Dwork AJ; Department of Psychiatry, Columbia University, New York, NY 10032.; Pefanis E; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; McCarthy S; Regeneron Genetics Center, Tarrytown, NY 10591.; Brydges S; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Rojas J; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Ye B; Regeneron Genetics Center, Tarrytown, NY 10591.; Stahl E; Regeneron Genetics Center, Tarrytown, NY 10591.; Di Gioia SA; Regeneron Genetics Center, Tarrytown, NY 10591.; Hen R; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Systems Neuroscience, New York State Psychiatric Institute, New York, NY 10032.; Elwood K; Geisinger Health System, Danville, PA 17822.; Rosoklija G; Department of Psychiatry, Columbia University, New York, NY 10032.; Li D; Regeneron Genetics Center, Tarrytown, NY 10591.; Mellis S; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Carey D; Geisinger Health System, Danville, PA 17822.; Croll SD; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Overton JD; Regeneron Genetics Center, Tarrytown, NY 10591.; Macdonald LE; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Economides AN; Regeneron Genetics Center, Tarrytown, NY 10591.; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY 10591.; Chuhma N; Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY 10032.; Rayport S; Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY 10032.; Amin N; Department of Psychiatry, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.; Department of Epidemiology, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.; Kushner SA; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Systems Neuroscience, New York State Psychiatric Institute, New York, NY 10032.; Alessandri-Haber N; Regeneron Pharmaceuticals Inc. Tarrytown, New York, NY 10591.; Markx S; Department of Psychiatry, Columbia University, New York, NY 10032.; Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY 10032.; Strauss KA; Clinic for Special Children, Gordonville, PA 17529.; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA 17602.; Departments of Pediatrics and Molecular, Cell and Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA 01655.

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; King J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Jeong R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Rothman E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Easterbrooks T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; de Berardinis T; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy.; Magli A; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy.; Koc F; Department of Ophthalmology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey.; Asakawa K; Neurobiology and Pathology Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.; Kawakami K; Laboratory of Molecular and Developmental Biology, National Institute of Genetics; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI).; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA.; Bulyk ML; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Di Gioia, Silvio Alessandro; Farinelli, Pietro; Letteboer, Stef J.F.; Arsenijevic, Yvan; Sharon, Dror; Roepman, Ronald; Rivolta, Carlo

Human Molecular Genetics. Jun 15, 2015 24(12):3359-3371

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Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wirth MM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bekele S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Toffoloni M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bradford VR; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Talkowski ME; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE