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A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. [electronic resource] by
- Kanda, Atsuhiro
- Chen, Wei
- Othman, Mohammad
- Branham, Kari E H
- Brooks, Matthew
- Khanna, Ritu
- He, Shirley
- Lyons, Robert
- Abecasis, Gonçalo R
- Swaroop, Anand
Producer: 20071128
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 104
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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. [electronic resource] by
- Li, Mingyao
- Atmaca-Sonmez, Pelin
- Othman, Mohammad
- Branham, Kari E H
- Khanna, Ritu
- Wade, Michael S
- Li, Yun
- Liang, Liming
- Zareparsi, Sepideh
- Swaroop, Anand
- Abecasis, Gonçalo R
Producer: 20061106
In:
Nature genetics vol. 38
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Differential DNA methylation identified in the blood and retina of AMD patients. [electronic resource] by
- Oliver, Verity F
- Jaffe, Andrew E
- Song, Jin
- Wang, Guohua
- Zhang, Pingwu
- Branham, Kari E
- Swaroop, Anand
- Eberhart, Charles G
- Zack, Donald J
- Qian, Jiang
- Merbs, Shannath L
Producer: 20160518
In:
Epigenetics vol. 10
Availability: No items available.
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Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. [electronic resource] by
- Jamshidi, Farzad
- Place, Emily M
- Mehrotra, Sudeep
- Navarro-Gomez, Daniel
- Maher, Mathew
- Branham, Kari E
- Valkanas, Elise
- Cherry, Timothy J
- Lek, Monkol
- MacArthur, Daniel
- Pierce, Eric A
- Bujakowska, Kinga M
Producer: 20190715
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. [electronic resource] by
- Bowne, Sara J
- Sullivan, Lori S
- Avery, Cheryl E
- Sasser, Elizabeth M
- Roorda, Austin
- Duncan, Jacque L
- Wheaton, Dianna H
- Birch, David G
- Branham, Kari E
- Heckenlively, John R
- Sieving, Paul A
- Daiger, Stephen P
Producer: 20140721
In:
Molecular vision vol. 19
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Ancestry estimation and control of population stratification for sequence-based association studies. [electronic resource] by
- Wang, Chaolong
- Zhan, Xiaowei
- Bragg-Gresham, Jennifer
- Kang, Hyun Min
- Stambolian, Dwight
- Chew, Emily Y
- Branham, Kari E
- Heckenlively, John
- Fulton, Robert
- Wilson, Richard K
- Mardis, Elaine R
- Lin, Xihong
- Swaroop, Anand
- Zöllner, Sebastian
- Abecasis, Gonçalo R
Producer: 20140519
In:
Nature genetics vol. 46
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Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. [electronic resource] by
- Zareparsi, Sepideh
- Buraczynska, Monika
- Branham, Kari E H
- Shah, Sapna
- Eng, Donna
- Li, Mingyao
- Pawar, Hemant
- Yashar, Beverly M
- Moroi, Sayoko E
- Lichter, Paul R
- Petty, Howard R
- Richards, Julia E
- Abecasis, Gonçalo R
- Elner, Victor M
- Swaroop, Anand
Producer: 20051128
In:
Human molecular genetics vol. 14
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Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration. [electronic resource] by
- Oliver, Verity F
- Franchina, Maria
- Jaffe, Andrew E
- Branham, Kari E
- Othman, Mohammad
- Heckenlively, John R
- Swaroop, Anand
- Campochiaro, Betsy
- Vote, Brendan J
- Craig, Jamie E
- Saffery, Richard
- Mackey, David A
- Qian, Jiang
- Zack, Donald J
- Hewitt, Alex W
- Merbs, Shannath L
Producer: 20140811
In:
Cell reports vol. 5
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Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. [electronic resource] by
- Thompson, Debra A
- Ali, Robin R
- Banin, Eyal
- Branham, Kari E
- Flannery, John G
- Gamm, David M
- Hauswirth, William W
- Heckenlively, John R
- Iannaccone, Alessandro
- Jayasundera, K Thiran
- Khan, Naheed W
- Molday, Robert S
- Pennesi, Mark E
- Reh, Thomas A
- Weleber, Richard G
- Zacks, David N
Producer: 20150324
In:
Investigative ophthalmology & visual science vol. 56
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Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. [electronic resource] by
- Abecasis, Gonçalo R
- Yashar, Beverly M
- Zhao, Yu
- Ghiasvand, Noor M
- Zareparsi, Sepideh
- Branham, Kari E H
- Reddick, Adam C
- Trager, Edward H
- Yoshida, Shigeo
- Bahling, John
- Filippova, Elena
- Elner, Susan
- Johnson, Mark W
- Vine, Andrew K
- Sieving, Paul A
- Jacobson, Samuel G
- Richards, Julia E
- Swaroop, Anand
Producer: 20040421
In:
American journal of human genetics vol. 74
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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. [electronic resource] by
- Sullivan, Lori S
- Bowne, Sara J
- Koboldt, Daniel C
- Cadena, Elizabeth L
- Heckenlively, John R
- Branham, Kari E
- Wheaton, Dianna H
- Jones, Kaylie D
- Ruiz, Richard S
- Pennesi, Mark E
- Yang, Paul
- Davis-Boozer, David
- Northrup, Hope
- Gurevich, Vsevold V
- Chen, Rui
- Xu, Mingchu
- Li, Yumei
- Birch, David G
- Daiger, Stephen P
Producer: 20170717
In:
Investigative ophthalmology & visual science vol. 58
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Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. [electronic resource] by
- Friedman, James S
- Chang, Bo
- Krauth, Daniel S
- Lopez, Irma
- Waseem, Naushin H
- Hurd, Ron E
- Feathers, Kecia L
- Branham, Kari E
- Shaw, Manessa
- Thomas, George E
- Brooks, Matthew J
- Liu, Chunqiao
- Bakeri, Hirva A
- Campos, Maria M
- Maubaret, Cecilia
- Webster, Andrew R
- Rodriguez, Ignacio R
- Thompson, Debra A
- Bhattacharya, Shomi S
- Koenekoop, Robert K
- Heckenlively, John R
- Swaroop, Anand
Producer: 20101115
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 107
Availability: No items available.
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