Brian J Shayota - Department of Pediatrics, University of Utah School of Medicine

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论文共 16 篇作者统计合作学者相似作者

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P030: Update from PHEFREE: the National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia

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

Genetics in Medicine Open (2025): 102874

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P586: Rapid Genome Sequencing Identifies Treatable Conditions in Non-Critically Ill Hospitalized Children

Julie Porter, Rachel Palmquist, Chelsea Solorzano, Joshua Bonkowsky, Sabrina Malone Jenkins,Brian Shayota

Genetics in Medicine Open (2025): 102434

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Phenylketonuria in Adults: We Know Plenty, but There is Much More to Learn

Cary O Harding,Georgianne Arnold,Gerard T Berry,Shawn E Christ,Dorothy K Grange,Elaina Jurecki,Harvey Levy,Uta Lichter-Konecki,Nicola Longo,Markey McNutt, Page Meachum,Stephanie Sacharow,Brian Shayota,Janet Thomas,Erika Vucko

The American Journal of Clinical Nutrition (2025)

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P652: Considerations of Variant Interpretation in Galactosemia: Challenges of Creating ACMG Specifications for GALT

Alexa Dickson, Diane Zastrow, Robert Lewis,Brian Shayota,Tatiana Yuzyuk,Gerard Berry,Didem Demirbas, Judith Fridovich-Keil,Rong Mao,Christina Hung

Genetics in Medicine Open (2025): 103021

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Clinical and Biochemical Characterization of a Patient with Prolidase Deficiency, a Rare Disorder of Collagen Metabolism

Troy Coody,Irene De Biase,V. Reid Sutton,Marzia Pasquali,Brian Shayota

Molecular Genetics and Metabolismno. 4 (2024): 108215-108215

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P317: Phenotypic Variability among Three Family Members with RAD21 Cornelia De Lange Syndrome

Stacey Cole,Brian Shayota,Vanina Taliercio, Brianna Stebbins,Gulsen Akay,Nicola Longo

Genetics in Medicine Open (2024): 101211

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P631: Case Report: Haploinsufficiency of the HMGB1 Gene Causes 13q12.3 Microdeletion Syndrome

Ting Wen,Brian Shayota, Lauren Wallace,Coumarane Mani, Neal Davis, Jian Zhao

Genetics in Medicine Open (2024): 101537

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P243: the Utah NeoSeq Project: Developing and Implementing Genomic Sequencing in Acute Neonatal Care

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

Genetics in Medicine Openno. 1 (2023): 100271-100271

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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

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

Genetics in Medicine Openno. 1 (2023): 100563-100563

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