Search Results - Emily Place

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  1. 1

    Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. by Kinga M Bujakowska, Joseph White, Emily Place, Mark Consugar, Jason Comander

    Published in PLoS ONE (2015-01-01)
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  2. 2

    P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services by Kaitlin O'Connell, John Borchert, Jason Comander, Rachel Huckfeldt, Eric Pierce, Emily Place

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker by Jason Comander, Carol Weigel DiFranco, Kit Sanderson, Emily Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M. Huckfeldt, Kinga M. Bujakowska, Eric Pierce

    Published in JCI Insight (2023-08-01)
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  4. 4

    P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions* by Nidhi Shah, Nina Gold, Sophia Adelson, Shardae Williams, Sarah Bick, Jessica Gold, Alanna Strong, Rebecca Ganetzky, Amy Roberts, Melissa Walker, Alexander Holtz, Vijay Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid Holm, Jay Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert Green

    Published in Genetics in Medicine Open (2023-01-01)
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  5. 5

    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features by Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

    Published in HGG Advances (2024-04-01)
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