Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diag...
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
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Author / Creator
Cope, Heidi , Hoppman, Nicole , Rehder, Catherine , Alkelai, Anna , Vilain, Eric , Shashi, Vandana , Acosta, Maria T , Adams, David R , Amendola, Laura , Andrews, Ashley , Bacino, Carlos A. , Baker, Eva , Beggs, Alan H. , Behrens, Edward , Bejerano, Gill , Bernstein, Jonathan A. , Bonner, Devon , Brokamp, Elly , Brown, Gabrielle , Carrasquillo, Olveen , Chao, Hsiao‐Tuan , Cobban, Laurel A. , Cogan, Joy D. , Crouse, Andrew B. , Cunningham, Michael , Dasari, Surendra , Davis, Joie , Dayal, Jyoti G. , Deardorff, Matthew , Douine, Emilie D. , Draper, David D. , Fieg, Elizabeth L. , Findley, Laurie C. , Fogel, Brent L. , Fresard, Laure , Golden‐Grant, Katie , Goldrich, Madison P , Grajewski, Alana , High, Frances , Hisama, Fuki M. , Holm, Ingrid A. , Isasi, Rosario , Jarvik, Gail P. , Jayadev, Suman , Karaviti, Lefkothea , Kohane, Isaac S. , Kohler, Jennefer N. , Kravets, Elijah , Lam, Byron , Lam, Christina , Lee, Hane , Levitt, Roy , Liu, Pengfei , Longo, Nicola , Majcherska, Marta M. , Manolio, Teri A. , Mao, Rong , Martínez‐Agosto, Julian A. , Marwaha, Shruti , McCauley, Jacob , McCray, Alexa T. , McGee, Elisabeth , Mefford, Heather , Mirzaa, Ghayda , Mosbrook‐Davis, Deborah , Newman, John H , Nickerson, Deborah , Nieves‐Rodriguez, Shirley , Orengo, James P. , Parker, Neil H. , Phillips, John A. , Posey, Jennifer E. , Potocki, Lorraine , Raskind, Wendy , Raja, Archana N. , Rosenfeld, Jill A. , Sacco, Ralph , Sampson, Jacinda B. , Saporta, Mario , Schaechter, Judy , Schoch, Kelly , Signer, Rebecca , Sisco, Kathy , Smith, Edward C. , Spillmann, Rebecca C. , Sullivan, Kathleen , Tabor, Holly K. , Tifft, Cynthia J. , Tucker, Brianna M. , Urv, Tiina K. , Vogel, Tiphanie P. , Walsh, Chris A. , Walker, Melissa , Wan, Jijun , Wangler, Michael F. , Wener, Mark , Wheeler, Matthew T. , Whitlock, Jordan , Yang, John , Zhao, Chunli and Undiagnosed Diseases Network
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
ABSTRACT
Background
Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant SVs in a 4‐year‐old male with an epileptic encephal...
Alternative Titles
Full title
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Authors, Artists and Contributors
Author / Creator
Hoppman, Nicole
Rehder, Catherine
Alkelai, Anna
Vilain, Eric
Shashi, Vandana
Acosta, Maria T
Adams, David R
Amendola, Laura
Andrews, Ashley
Bacino, Carlos A.
Baker, Eva
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bernstein, Jonathan A.
Bonner, Devon
Brokamp, Elly
Brown, Gabrielle
Carrasquillo, Olveen
Chao, Hsiao‐Tuan
Cobban, Laurel A.
Cogan, Joy D.
Crouse, Andrew B.
Cunningham, Michael
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Douine, Emilie D.
Draper, David D.
Fieg, Elizabeth L.
Findley, Laurie C.
Fogel, Brent L.
Fresard, Laure
Golden‐Grant, Katie
Goldrich, Madison P
Grajewski, Alana
High, Frances
Hisama, Fuki M.
Holm, Ingrid A.
Isasi, Rosario
Jarvik, Gail P.
Jayadev, Suman
Karaviti, Lefkothea
Kohane, Isaac S.
Kohler, Jennefer N.
Kravets, Elijah
Lam, Byron
Lam, Christina
Lee, Hane
Levitt, Roy
Liu, Pengfei
Longo, Nicola
Majcherska, Marta M.
Manolio, Teri A.
Mao, Rong
Martínez‐Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Mirzaa, Ghayda
Mosbrook‐Davis, Deborah
Newman, John H
Nickerson, Deborah
Nieves‐Rodriguez, Shirley
Orengo, James P.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
Potocki, Lorraine
Raskind, Wendy
Raja, Archana N.
Rosenfeld, Jill A.
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schoch, Kelly
Signer, Rebecca
Sisco, Kathy
Smith, Edward C.
Spillmann, Rebecca C.
Sullivan, Kathleen
Tabor, Holly K.
Tifft, Cynthia J.
Tucker, Brianna M.
Urv, Tiina K.
Vogel, Tiphanie P.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Wener, Mark
Wheeler, Matthew T.
Whitlock, Jordan
Yang, John
Zhao, Chunli
Undiagnosed Diseases Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_760a42d7a4b3411d8e613729a17fc702
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_760a42d7a4b3411d8e613729a17fc702
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1665
