P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

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Main Authors: Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425011859
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author Revathi Rajkumar
Anjana Chandrasekhar
Zinayida Schlachetzki
Samin Sajan
Brittany Thomas
Becky Milewski
Joshua Lowry
Richard Wang
Jon Albay
Danny Miller
Kaitlyn Burns
Laura Davis-Keppen
Nora Urraca
Kerri Bosfield
Katherine Cung
Erin Venti
Ryan Taft
Denise Perry
Akanchha Kesari
author_facet Revathi Rajkumar
Anjana Chandrasekhar
Zinayida Schlachetzki
Samin Sajan
Brittany Thomas
Becky Milewski
Joshua Lowry
Richard Wang
Jon Albay
Danny Miller
Kaitlyn Burns
Laura Davis-Keppen
Nora Urraca
Kerri Bosfield
Katherine Cung
Erin Venti
Ryan Taft
Denise Perry
Akanchha Kesari
author_sort Revathi Rajkumar
collection DOAJ
format Article
id doaj-art-e106526f85224de2ae5d8f7bd0ad9e94
institution DOAJ
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-e106526f85224de2ae5d8f7bd0ad9e942025-08-20T03:14:35ZengElsevierGenetics in Medicine Open2949-77442025-01-01310314610.1016/j.gimo.2025.103146P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging casesRevathi Rajkumar0Anjana Chandrasekhar1Zinayida Schlachetzki2Samin Sajan3Brittany Thomas4Becky Milewski5Joshua Lowry6Richard Wang7Jon Albay8Danny Miller9Kaitlyn Burns10Laura Davis-Keppen11Nora Urraca12Kerri Bosfield13Katherine Cung14Erin Venti15Ryan Taft16Denise Perry17Akanchha Kesari18Illumina, IncIllumina, IncIllumina, IncUniversity of Wisconsin-MadisonIllumina, IncIllumina, IncIllumina, IncIllumina, IncIllumina, IncUniversity of WashingtonSanford Children's Specialty ClinicSanford Children's Specialty ClinicLe Bonheur Children's HospitalLe Bonheur Children's HospitalIllumina, IncIllumina, IncIllumina, IncIllumina, IncIllumina, Inchttp://www.sciencedirect.com/science/article/pii/S2949774425011859
spellingShingle Revathi Rajkumar
Anjana Chandrasekhar
Zinayida Schlachetzki
Samin Sajan
Brittany Thomas
Becky Milewski
Joshua Lowry
Richard Wang
Jon Albay
Danny Miller
Kaitlyn Burns
Laura Davis-Keppen
Nora Urraca
Kerri Bosfield
Katherine Cung
Erin Venti
Ryan Taft
Denise Perry
Akanchha Kesari
P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
Genetics in Medicine Open
title P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
title_full P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
title_fullStr P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
title_full_unstemmed P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
title_short P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
title_sort p777 genome sequencing detects transposable element te insertions in two diagnostic challenging cases
url http://www.sciencedirect.com/science/article/pii/S2949774425011859
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