Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing
Voigt, A.P., Whitmore, S.S., Flamme-Wiese, M.J., Riker, M.J., Wiley, L.A., Tucker, B.A., Stone, E.M., Mullins, R.F., Scheetz, T.E.
Published in Experimental eye research (01.07.2019)
Published in Experimental eye research (01.07.2019)
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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)
Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2006)
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Bbs2-Null Mice Have Neurosensory Deficits, a Defect in Social Dominance, and Retinopathy Associated with Mislocalization of Rhodopsin
Nishimura, Darryl Y., Fath, Melissa, Mullins, Robert F., Searby, Charles, Andrews, Michael, Davis, Roger, Andorf, Jeaneen L., Mykytyn, Kirk, Swiderski, Ruth E., Yang, Baoli, Carmi, Rivka, Stone, Edwin M., Sheffield, Val C., Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (23.11.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (23.11.2004)
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Bardet-Biedl Syndrome Type 4 (BBS4)-Null Mice Implicate Bbs4 in Flagella Formation but Not Global Cilia Assembly
Mykytyn, Kirk, Mullins, Robert F., Andrews, Michael, Chiang, Annie P., Swiderski, Ruth E., Yang, Baoli, Braun, Terry, Casavant, Thomas, Stone, Edwin M., Sheffield, Val C., Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2004)
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Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration
Stone, Edwin M, Braun, Terry A, Russell, Stephen R, Kuehn, Markus H, Lotery, Andrew J, Moore, Paula A, Eastman, Christopher G, Casavant, Thomas L, Sheffield, Val C
Published in The New England journal of medicine (22.07.2004)
Published in The New England journal of medicine (22.07.2004)
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Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success
Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Elizabeth A. M. Windsor, Traboulsi, Elias I., Heon, Elise, Pittler, Steven J., Milam, Ann H., Maguire, Albert M., Palczewski, Krzysztof, Stone, Edwin M., Bennett, Jean, Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (26.04.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (26.04.2005)
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Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Biswas, S, Munier, F L, Yardley, J, Hart-Holden, N, Perveen, R, Cousin, P, Sutphin, JE, Noble, B, Batterbury, M, Kielty, C, Hackett, A, Bonshek, R, Ridgway, A, Black, GCM
Published in Human molecular genetics (02.10.2001)
Published in Human molecular genetics (02.10.2001)
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Journal Article
Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
Chiang, Annie P., Nishimura, Darryl, Searby, Charles, Elbedour, Khalil, Carmi, Rivka, Ferguson, Amanda L., Secrist, Jenifer, Braun, Terry, Casavant, Thomas, Stone, Edwin M., Sheffield, Val C.
Published in American journal of human genetics (01.09.2004)
Published in American journal of human genetics (01.09.2004)
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Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., Maguire, Albert M., Bennett, Jean, Stone, Edwin M., Jacobson, Samuel G.
Published in Human molecular genetics (01.03.2004)
Published in Human molecular genetics (01.03.2004)
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The Quorum-Quenching Lactonase from Bacillus thuringiensis Is a Metalloprotein
Thomas, Pei W, Stone, Everett M, Costello, Alison L, Tierney, David L, Fast, Walter
Published in Biochemistry (Easton) (24.05.2005)
Published in Biochemistry (Easton) (24.05.2005)
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Inactivation of Two Diverse Enzymes in the Amidinotransferase Superfamily by 2-Chloroacetamidine: Dimethylargininase and Peptidylarginine Deiminase
Stone, Everett M, Schaller, Terezie H, Bianchi, Helena, Person, Maria D, Fast, Walter
Published in Biochemistry (Easton) (25.10.2005)
Published in Biochemistry (Easton) (25.10.2005)
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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
Jacobson, Samuel G., Cideciyan, Artur V., Aleman, Tomas S., Pianta, Michael J., Sumaroka, Alexander, Schwartz, Sharon B., Smilko, Elaine E., Milam, Ann H., Sheffield, Val C., Stone, Edwin M.
Published in Human molecular genetics (01.05.2003)
Published in Human molecular genetics (01.05.2003)
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Three-dimensional structure of the quorum-quenching N-acyl homoserine lactone hydrolase from Bacillus thuringiensis
Liu, D, Lepore, B.W, Petsko, G.A, Thomas, P.W, Stone, E.M, Fast, W, Ringe, D
Published in Proceedings of the National Academy of Sciences - PNAS (16.08.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (16.08.2005)
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Myocilin Glaucoma
Fingert, John H, Stone, Edwin M, Sheffield, Val C, Alward, Wallace L.M
Published in Survey of ophthalmology (01.11.2002)
Published in Survey of ophthalmology (01.11.2002)
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Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Sheffield, Val C, Mykytyn, Kirk, Nishimura, Darryl Y, Searby, Charles C, Shastri, Mythreyi, Yen, Hsan-jan, Beck, John S, Braun, Terry, Streb, Luan M, Cornier, Alberto S, Cox, Gerald F, Fulton, Anne B, Carmi, Rivka, Lüleci, Güven, Chandrasekharappa, Settara C, Collins, Francis S, Jacobson, Samuel G, Heckenlively, John R, Weleber, Richard G, Stone, Edwin M
Published in Nature genetics (01.08.2002)
Published in Nature genetics (01.08.2002)
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ABCA4-Associated Retinal Degenerations Spare Structure and Function of the Human Parapapillary Retina
Cideciyan, Artur V, Swider, Malgorzata, Aleman, Tomas S, Sumaroka, Alexander, Schwartz, Sharon B, Roman, Marisa I, Milam, Ann H, Bennett, Jean, Stone, Edwin M, Jacobson, Samuel G
Published in Investigative ophthalmology & visual science (01.12.2005)
Published in Investigative ophthalmology & visual science (01.12.2005)
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VSX1: A gene for posterior polymorphous dystrophy and keratoconus
Héon, Elise, Greenberg, Alex, Kopp, Kelly K., Rootman, David, Vincent, Andrea L., Billingsley, Gail, Priston, Megan, Dorval, Kimberley M., Chow, Robert L., McInnes, Roderick R., Heathcote, Godfrey, Westall, Carol, Sutphin, John E., Semina, Elena, Bremner, Rod, Stone, Edwin M.
Published in Human molecular genetics (01.05.2002)
Published in Human molecular genetics (01.05.2002)
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Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
Alward, Wallace L.M, Kwon, Young H, Kawase, Kazuhide, Craig, Jamie E, Hayreh, Sohan S, Johnson, A.Tim, Khanna, Cheryl L, Yamamoto, Tetsuya, Mackey, David A, Roos, Benjamin R, Affatigato, Louisa M, Sheffield, Val C, Stone, Edwin M
Published in American journal of ophthalmology (01.11.2003)
Published in American journal of ophthalmology (01.11.2003)
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Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
JACOBSON, Nasreen, ANDREWS, Michael, ALWARD, W. L. M, STONE, Edwin M, CLARK, Abbot F, SHEFFIELD, Val C, SHEPARD, Allan R, NISHIMURA, Darryl, SEARBY, Charles, FINGERT, John H, HAGEMAN, Greg, MULLINS, Robert, DAVIDSON, Beverly L, KWON, Young H
Published in Human molecular genetics (15.01.2001)
Published in Human molecular genetics (15.01.2001)
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