検索結果 - Brian Shayota

P172: Novel biallelic variants in the CSMD1 gene in a child with cerebellar ataxia and developmental regression: A case report 著者: Shelby Geilmann, Brian Shayota

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P317: Phenotypic variability among three family members with RAD21 Cornelia de Lange syndrome 著者: Stacey Cole, Brian Shayota, Vanina Taliercio, Brianna Stebbins, Gulsen Akay, Nicola Longo

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P631: Case report: Haploinsufficiency of the HMGB1 gene causes 13q12.3 microdeletion syndrome 著者: Ting Wen, Brian Shayota, Lauren Wallace, Coumarane Mani, Neal Davis, Jian Zhao

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P586: Rapid genome sequencing identifies treatable conditions in non-critically ill hospitalized children 著者: Julie Porter, Rachel Palmquist, Chelsea Solorzano, Joshua Bonkowsky, Sabrina Malone Jenkins, Brian Shayota

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P166: Phenotypic profiles of rapid whole genome sequencing in pediatric patients: A single center study 著者: Andrew Fontes, Rachel Palmquist, Erin Gosekampm, Sabrina Malone-Jenkins, Brian Shayota, Joshua Bonkowsky

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P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT 著者: Alexa Dickson, Diane Zastrow, Robert Lewis, Brian Shayota, Tatiana Yuzyuk, Gerard Berry, Didem Demirbas, Judith Fridovich-Keil, Rong Mao, Christina Hung

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P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia 著者: Georgianne Arnold, Hadley Morotti, Gerard Berry, Shawn Christ, Dorothy Grange, Cary Harding, Elaina Jurecki, Uta Lichter-Konecki, Harvey Levy, Nicola Longo, Stephanie Sacharow, Brian Shayota, Janet Thomas, Desiree White

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P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome 著者: Ting Wen, Hayley Reynolds, Andrew Farrell, Barry Moore, Steven Boyden, Thomas Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Bonkowsky, Brian Shayota, Sabrina Malone-Jenkins, Pinar Bayrak-Toydemir, Rong Mao

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P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines 著者: Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan

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P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder 著者: Lindsay Burrage, Denise Lanza, Paul Marcogliese, Di Lu, Chih-Wei Logan Hsu, Nathalie Aceves, Matthew Gonzalez, Audrey Christiansen, Tara Rasmussen, Angelina Gaspero, John Seavitt, Mary Dickinson, Brian Shayota, Stephanie Pachter, Debra-Lynn Day-Salvatore, Oguz Kanca, Michael Wangler, Lorraine Potocki, Jill Rosenfeld, Brendan Lee, Shinya Yamamoto, Hugo Bellen, Jason Heaney

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P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 著者: Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins

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P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care 著者: Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky

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