Search Results - Nancy Spinner
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P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease by Hadia Hijazi, Tamara Luke, Kieran Pechter, Archana Tare, Kajia Cao, Laura Conlin, Judith Kelsen, Nancy Spinner, Yavuz Bayram
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P741: Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing by Elizabeth A. Fanning, Sara Reichert, Brooke Weckselblatt, Matthew Dulik, Minjie Luo, Yavuz Bayram, Holly Dubbs, Elaine Zackai, Nancy Spinner, Laura Conlin
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P640: Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs exome/genome sequencing as a first-tier test by Sara Reichert, Emma Bedoukian, K. Taylor Wild, Jennifer Lent, Elizabeth A. Fanning, Alexandra Heck, Ramakrishnan Rajagopalan, Laura Conlin, Nancy Spinner, Matthew Dulik
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene by Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Chengyu Liu, Karsten Baumgärtel, Melissa Gilbert, Nancy Spinner, Catherine Chen, Jizhong Zou, Wei Zheng
Published in Stem Cell Research (2023-12-01)Get full text
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P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period by Emma Bedoukian, Sara Reichert, Elizabeth DeChene, Alexandra Heck, Jennifer Hershey, Morgan McManus, Michelle Marchese, Surabhi Mulchandani, Francis Jeshira Reynoso Santos, K. Taylor Wild, Kathleen Wood, Laura Conlin, Matthew Dulik, Ramakrishnan Rajagopalan, Nancy Spinner, Ian Krantz
Published in Genetics in Medicine Open (2024-01-01)Get full text
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