Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

American Journal of Medical Genetics Part AEarly View RESEARCH LETTER Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq Emily Farrow, Emily Farrow Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorAllison Jay, Corresponding Author Allison Jay [email protected] orcid.org/0000-0003-2252-6954 Ascension St. John, Detroit, Michigan, USA Correspondence Allison Jay, Ascension St. John, 19229 Mack Ave, Detroit, MI 48236, USA. Email: [email protected]Search for more papers by this authorJohn Means, John Means Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorScott Younger, Scott Younger Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorRebecca Biswell, Rebecca Biswell Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorBoryana Koseva, Boryana Koseva Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorIsabelle Thiffault, Isabelle Thiffault orcid.org/0000-0001-7987-6731 Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorTomi Pastinen, Tomi Pastinen Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorKara Pappas, Kara Pappas orcid.org/0000-0001-7270-7724 Genetics, Dayton Children's Hospital, Dayton, Ohio, USASearch for more papers by this authorHelga Toriello, Helga Toriello College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USASearch for more papers by this author Emily Farrow, Emily Farrow Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorAllison Jay, Corresponding Author Allison Jay [email protected] orcid.org/0000-0003-2252-6954 Ascension St. John, Detroit, Michigan, USA Correspondence Allison Jay, Ascension St. John, 19229 Mack Ave, Detroit, MI 48236, USA. Email: [email protected]Search for more papers by this authorJohn Means, John Means Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorScott Younger, Scott Younger Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorRebecca Biswell, Rebecca Biswell Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorBoryana Koseva, Boryana Koseva Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorIsabelle Thiffault, Isabelle Thiffault orcid.org/0000-0001-7987-6731 Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorTomi Pastinen, Tomi Pastinen Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USASearch for more papers by this authorKara Pappas, Kara Pappas orcid.org/0000-0001-7270-7724 Genetics, Dayton Children's Hospital, Dayton, Ohio, USASearch for more papers by this authorHelga Toriello, Helga Toriello College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USASearch for more papers by this author First published: 07 August 2023 https://doi.org/10.1002/ajmg.a.63365Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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