Showing 1 - 20 results of 43 for search 'A. Rosenfeld', query time: 0.08s
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Limitations of the human reference genome for personalized genomics. by Jeffrey A Rosenfeld, Christopher E Mason, Todd M Smith
Published 2012-01-01
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Genomic and immunologic correlates of LAG-3 expression in cancer by Anshuman Panda, Jeffrey A. Rosenfeld, Eric A. Singer, Gyan Bhanot, Shridar Ganesan
Published 2020-01-01
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The transcription factor Maz is essential for normal eye development by Olga Medina-Martinez, Meade Haller, Jill A. Rosenfeld, Marisol A. O'Neill, Dolores J. Lamb, Milan Jamrich
Published 2020-08-01
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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes by Qixin Yang, Amy M. Berkman, Jordan E. Ezekian, Michael Rosamilia, Jill A. Rosenfeld, Pengfei Liu, Andrew P. Landstrom
Published 2022-10-01
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Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population v... by Andrew T. Headrick, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Daniel J. Penny, Jeffrey J. Kim, Andrew P. Landstrom
Published 2019-06-01
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes by Tara N. Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A. Rosenfeld, Jennifer VanOudenhove, Daryl A. Scott, Elizabeth J. Leslie, Justin Cotney
Published 2023-08-01
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Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy by Leonie M. Kurzlechner, Edward G. Jones, Amy M. Berkman, Hanna J. Tadros, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Jeffrey J. Kim, Andrew P. Landstrom
Published 2022-04-01
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Saturation mutagenesis defines novel mouse models of severe spine deformity by Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise
Published 2021-06-01
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Evaluation of a visual aid toolkit for water, sanitation, and hygiene education in the Bateyes of La Romana, Dominican Republic by C.J. Smith, J.E. Nordhauser, E. Bernstein, C.E. Jordan, D.F. Jibowu, C.A. Rice, L.K. Michael, J.M. Ascher, P. Bropleh, R.E. Berggren, J.A. Rosenfeld
Published 2016-08-01
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Characterization of the renal phenotype in RMND1‐related mitochondrial disease by Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Published 2019-12-01
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A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. by Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
Published 2010-08-01
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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation by Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A Gillentine, Jill A Rosenfeld, Sumit Parikh, James W Wheless, Elizabeth R Roeder, Dafne DG Horovitz, Erin K Roney, Janice L Smith, Sau W Cheung, Wei Li, Joel R Neilson, Christian P Schaaf, Huda Y Zoghbi
Published 2015-08-01
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. by Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, Hima V Vangapandu, Aysegul Sahin, Dung Pham, Claudia M B Carvalho, Anne Bandholz, Amanda Miller, David D Weaver, Barbara Burton, Deepti Babu, John S Bamforth, Timothy Wilks, Daniel P Flynn, Elizabeth Roeder, Ankita Patel, Sau W Cheung, James R Lupski, Dolores J Lamb
Published 2014-01-01
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network by Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G. Kelley, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi
Published 2020-10-01
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