Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
D'Annibale, Olivia M., Koppes, Erik A., Sethuraman, Meena, Bloom, Kaitlyn, Mohsen, Al‐Walid, Vockley, Jerry
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
D'Annibale, Olivia M., Koppes, Erik A., Alodaib, Ahmad N., Kochersperger, Catherine, Karunanidhi, Anuradha, Mohsen, Al-Walid, Vockley, Jerry
Published in Molecular genetics and metabolism (01.09.2021)
Published in Molecular genetics and metabolism (01.09.2021)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, 3rd, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun Jung, Drain, Peter, Nicholls, Robert D
Published in PLoS genetics (01.04.2023)
Published in PLoS genetics (01.04.2023)
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A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
Koppes, Erik A, Redel, Bethany K, Johnson, Marie A, Skvorak, Kristen J, Ghaloul-Gonzalez, Lina, Yates, Megan E, Lewis, Dale W, Gollin, Susanne M, Wu, Yijen L, Christ, Shawn E, Yerle, Martine, Leshinski, Angela, Spate, Lee D, Benne, Joshua A, Murphy, Stephanie L, Samuel, Melissa S, Walters, Eric M, Hansen, Sarah A, Wells, Kevin D, Lichter-Konecki, Uta, Wagner, Robert A, Newsome, Joseph T, Dobrowolski, Steven F, Vockley, Jerry, Prather, Randall S, Nicholls, Robert D
Published in JCI insight (15.10.2020)
Published in JCI insight (15.10.2020)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome [beta]-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun Jung, Drain, Peter, Nicholls, Robert D
Published in PLoS genetics (17.04.2023)
Published in PLoS genetics (17.04.2023)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun J, Drain, Peter, Nicholls, Robert D
Published in bioRxiv (18.06.2022)
Published in bioRxiv (18.06.2022)
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