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81.
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Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. [electronic resource] by
- Stone, Edwin M
- Cideciyan, Artur V
- Aleman, Tomas S
- Scheetz, Todd E
- Sumaroka, Alexander
- Ehlinger, Mary A
- Schwartz, Sharon B
- Fishman, Gerald A
- Traboulsi, Elias I
- Lam, Byron L
- Fulton, Anne B
- Mullins, Robert F
- Sheffield, Val C
- Jacobson, Samuel G
Producer: 20110210
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 129
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82.
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Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. [electronic resource] by
- Fingert, John H
- Robin, Alan L
- Stone, Jennifer L
- Roos, Ben R
- Davis, Lea K
- Scheetz, Todd E
- Bennett, Steve R
- Wassink, Thomas H
- Kwon, Young H
- Alward, Wallace L M
- Mullins, Robert F
- Sheffield, Val C
- Stone, Edwin M
Producer: 20110916
In:
Human molecular genetics vol. 20
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83.
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A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. [electronic resource] by
- Scheetz, Todd E
- Fingert, John H
- Wang, Kai
- Kuehn, Markus H
- Knudtson, Kevin L
- Alward, Wallace L M
- Boldt, H Culver
- Russell, Stephen R
- Folk, James C
- Casavant, Thomas L
- Braun, Terry A
- Clark, Abbot F
- Stone, Edwin M
- Sheffield, Val C
Producer: 20131227
In:
PloS one vol. 8
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84.
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Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. [electronic resource] by
- O'Leary, Brian M
- Davis, Steven G
- Smith, Michael F
- Brown, Bartley
- Kemp, Mathew B
- Almabrazi, Hakeem
- Grundstad, Jason A
- Burns, Thomas
- Leontiev, Vladimir
- Andorf, Jeaneen
- Clark, Abbot F
- Sheffield, Val C
- Casavant, Thomas L
- Scheetz, Todd E
- Stone, Edwin M
- Braun, Terry A
Producer: 20080402
In:
Journal of bioinformatics and computational biology vol. 5
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85.
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Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. [electronic resource] by
- Hazlewood, Ralph J
- Roos, Benjamin R
- Solivan-Timpe, Frances
- Honkanen, Robert A
- Jampol, Lee M
- Gieser, Stephen C
- Meyer, Kacie J
- Mullins, Robert F
- Kuehn, Markus H
- Scheetz, Todd E
- Kwon, Young H
- Alward, Wallace L M
- Stone, Edwin M
- Fingert, John H
Producer: 20151125
In:
Human mutation vol. 36
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86.
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Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. [electronic resource] by
- Eppsteiner, Robert W
- Shearer, A Eliot
- Hildebrand, Michael S
- Deluca, Adam P
- Ji, Haihong
- Dunn, Camille C
- Black-Ziegelbein, Elizabeth A
- Casavant, Thomas L
- Braun, Terry A
- Scheetz, Todd E
- Scherer, Steven E
- Hansen, Marlan R
- Gantz, Bruce J
- Smith, Richard J H
Producer: 20130212
In:
Hearing research vol. 292
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87.
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AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. [electronic resource] by
- Taylor, Kyle R
- Deluca, Adam P
- Shearer, A Eliot
- Hildebrand, Michael S
- Black-Ziegelbein, E Ann
- Anand, V Nikhil
- Sloan, Christina M
- Eppsteiner, Robert W
- Scheetz, Todd E
- Huygen, Patrick L M
- Smith, Richard J H
- Braun, Terry A
- Casavant, Thomas L
Producer: 20130906
In:
Human mutation vol. 34
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88.
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High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. [electronic resource] by
- Kwitek, Anne E
- Gullings-Handley, Jo
- Yu, Jiaming
- Carlos, Danilo C
- Orlebeke, Kimberly
- Nie, Jeff
- Eckert, Jeffrey
- Lemke, Angela
- Andrae, Jaime Wendt
- Bromberg, Susan
- Pasko, Dean
- Chen, Dan
- Scheetz, Todd E
- Casavant, Thomas L
- Soares, M Bento
- Sheffield, Val C
- Tonellato, Peter J
- Jacob, Howard J
Producer: 20040505
In:
Genome research vol. 14
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89.
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Myocilin Mutations in Patients With Normal-Tension Glaucoma. [electronic resource] by
- Alward, Wallace L M
- van der Heide, Carly
- Khanna, Cheryl L
- Roos, Ben R
- Sivaprasad, Sobha
- Kam, Jason
- Ritch, Robert
- Lotery, Andrew
- Igo, Robert P
- Cooke Bailey, Jessica N
- Stone, Edwin M
- Scheetz, Todd E
- Kwon, Young H
- Pasquale, Louis R
- Wiggs, Janey L
- Fingert, John H
Producer: 20200218
In:
JAMA ophthalmology vol. 137
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90.
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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). [electronic resource] by
- 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
Producer: 20060623
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 103
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91.
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Copy number variations and primary open-angle glaucoma. [electronic resource] by
- Davis, Lea K
- Meyer, Kacie J
- Schindler, Emily I
- Beck, John S
- Rudd, Danielle S
- Grundstad, A Jason
- Scheetz, Todd E
- Braun, Terry A
- Fingert, John H
- Alward, Wallace L M
- Kwon, Young H
- Folk, James C
- Russell, Stephen R
- Wassink, Thomas H
- Sheffield, Val C
- Stone, Edwin M
Producer: 20111104
In:
Investigative ophthalmology & visual science vol. 52
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92.
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Genome-wide analysis of copy number variants in age-related macular degeneration. [electronic resource] by
- Meyer, Kacie J
- Davis, Lea K
- Schindler, Emily I
- Beck, John S
- Rudd, Danielle S
- Grundstad, A Jason
- Scheetz, Todd E
- Braun, Terry A
- Fingert, John H
- Alward, Wallace L
- Kwon, Young H
- Folk, James C
- Russell, Stephen R
- Wassink, Thomas H
- Stone, Edwin M
- Sheffield, Val C
Producer: 20110202
In:
Human genetics vol. 129
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93.
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Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. [electronic resource] by
- DeLuca, Adam P
- Whitmore, S Scott
- Barnes, Jenna
- Sharma, Tasneem P
- Westfall, Trudi A
- Scott, C Anthony
- Weed, Matthew C
- Wiley, Jill S
- Wiley, Luke A
- Johnston, Rebecca M
- Schnieders, Michael J
- Lentz, Steven R
- Tucker, Budd A
- Mullins, Robert F
- Scheetz, Todd E
- Stone, Edwin M
- Slusarski, Diane C
Producer: 20160923
In:
Human molecular genetics vol. 25
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94.
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Audioprofile Surfaces: The 21st Century Audiogram. [electronic resource] by
- Taylor, Kyle R
- Booth, Kevin T
- Azaiez, Hela
- Sloan, Christina M
- Kolbe, Diana L
- Glanz, Emily N
- Shearer, A Eliot
- DeLuca, Adam P
- Anand, V Nikhil
- Hildebrand, Michael S
- Simpson, Allen C
- Eppsteiner, Robert W
- Scheetz, Todd E
- Braun, Terry A
- Huygen, Patrick L M
- Smith, Richard J H
- Casavant, Thomas L
Producer: 20160920
In:
The Annals of otology, rhinology, and laryngology vol. 125
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95.
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Advancing genetic testing for deafness with genomic technology. [electronic resource] by
- Shearer, A Eliot
- Black-Ziegelbein, E Ann
- Hildebrand, Michael S
- Eppsteiner, Robert W
- Ravi, Harini
- Joshi, Swati
- Guiffre, Angelica C
- Sloan, Christina M
- Happe, Scott
- Howard, Susanna D
- Novak, Barbara
- Deluca, Adam P
- Taylor, Kyle R
- Scheetz, Todd E
- Braun, Terry A
- Casavant, Thomas L
- Kimberling, William J
- Leproust, Emily M
- Smith, Richard J H
Producer: 20140508
In:
Journal of medical genetics vol. 50
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96.
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Transcriptional patterns in both host and bacterium underlie a daily rhythm of anatomical and metabolic change in a beneficial symbiosis. [electronic resource] by
- Wier, Andrew M
- Nyholm, Spencer V
- Mandel, Mark J
- Massengo-Tiassé, R Prisca
- Schaefer, Amy L
- Koroleva, Irina
- Splinter-Bondurant, Sandra
- Brown, Bartley
- Manzella, Liliana
- Snir, Einat
- Almabrazi, Hakeem
- Scheetz, Todd E
- Bonaldo, Maria de Fatima
- Casavant, Thomas L
- Soares, M Bento
- Cronan, John E
- Reed, Jennifer L
- Ruby, Edward G
- McFall-Ngai, Margaret J
Producer: 20100305
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 107
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97.
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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. [electronic resource] by
- Small, Kent W
- DeLuca, Adam P
- Whitmore, S Scott
- Rosenberg, Thomas
- Silva-Garcia, Rosemary
- Udar, Nitin
- Puech, Bernard
- Garcia, Charles A
- Rice, Thomas A
- Fishman, Gerald A
- Héon, Elise
- Folk, James C
- Streb, Luan M
- Haas, Christine M
- Wiley, Luke A
- Scheetz, Todd E
- Fingert, John H
- Mullins, Robert F
- Tucker, Budd A
- Stone, Edwin M
Producer: 20160426
In:
Ophthalmology vol. 123
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98.
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An annotated cDNA library of juvenile Euprymna scolopes with and without colonization by the symbiont Vibrio fischeri. [electronic resource] by
- Chun, Carlene K
- Scheetz, Todd E
- Bonaldo, Maria de Fatima
- Brown, Bartley
- Clemens, Anik
- Crookes-Goodson, Wendy J
- Crouch, Keith
- DeMartini, Tad
- Eyestone, Mari
- Goodson, Michael S
- Janssens, Bernadette
- Kimbell, Jennifer L
- Koropatnick, Tanya A
- Kucaba, Tamara
- Smith, Christina
- Stewart, Jennifer J
- Tong, Deyan
- Troll, Joshua V
- Webster, Sarahrose
- Winhall-Rice, Jane
- Yap, Cory
- Casavant, Thomas L
- McFall-Ngai, Margaret J
- Soares, M Bento
Producer: 20061127
In:
BMC genomics vol. 7
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99.
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1274 full-open reading frames of transcripts expressed in the developing mouse nervous system. [electronic resource] by
- Bonaldo, Maria F
- Bair, Thomas B
- Scheetz, Todd E
- Snir, Einat
- Akabogu, Ike
- Bair, Jennifer L
- Berger, Brian
- Crouch, Keith
- Davis, Aja
- Eyestone, Mari E
- Keppel, Catherine
- Kucaba, Tamara A
- Lebeck, Mark
- Lin, Jenny L
- de Melo, Anna I R
- Rehmann, Joshua
- Reiter, Rebecca S
- Schaefer, Kelly
- Smith, Christina
- Tack, Dylan
- Trout, Kurtis
- Sheffield, Val C
- Lin, Jim J-C
- Casavant, Thomas L
- Soares, Marcelo B
Producer: 20041116
In:
Genome research vol. 14
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100.
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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. [electronic resource] by
- Shearer, A Eliot
- Eppsteiner, Robert W
- Booth, Kevin T
- Ephraim, Sean S
- Gurrola, José
- Simpson, Allen
- Black-Ziegelbein, E Ann
- Joshi, Swati
- Ravi, Harini
- Giuffre, Angelica C
- Happe, Scott
- Hildebrand, Michael S
- Azaiez, Hela
- Bayazit, Yildirim A
- Erdal, Mehmet Emin
- Lopez-Escamez, Jose A
- Gazquez, Irene
- Tamayo, Marta L
- Gelvez, Nancy Y
- Leal, Greizy Lopez
- Jalas, Chaim
- Ekstein, Josef
- Yang, Tao
- Usami, Shin-ichi
- Kahrizi, Kimia
- Bazazzadegan, Niloofar
- Najmabadi, Hossein
- Scheetz, Todd E
- Braun, Terry A
- Casavant, Thomas L
- LeProust, Emily M
- Smith, Richard J H
Producer: 20141209
In:
American journal of human genetics vol. 95
Availability: No items available.
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