Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2...
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
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Author / Creator
LaFlamme, Christy W. , Rastin, Cassandra , Sengupta, Soham , Pennington, Helen E. , Russ-Hall, Sophie J. , Schneider, Amy L. , Bonkowski, Emily S. , Almanza Fuerte, Edith P. , Allan, Talia J. , Zalusky, Miranda Perez-Galey , Goffena, Joy , Gibson, Sophia B. , Nyaga, Denis M. , Lieffering, Nico , Hebbar, Malavika , Walker, Emily V. , Darnell, Daniel , Olsen, Scott R. , Kolekar, Pandurang , Djekidel, Mohamed Nadhir , Rosikiewicz, Wojciech , McConkey, Haley , Kerkhof, Jennifer , Levy, Michael A. , Relator, Raissa , Lev, Dorit , Lerman-Sagie, Tally , Park, Kristen L. , Alders, Marielle , Cappuccio, Gerarda , Chatron, Nicolas , Demain, Leigh , Genevieve, David , Lesca, Gaetan , Roscioli, Tony , Sanlaville, Damien , Tedder, Matthew L. , Gupta, Sachin , Jones, Elizabeth A. , Weisz-Hubshman, Monika , Ketkar, Shamika , Dai, Hongzheng , Worley, Kim C. , Rosenfeld, Jill A. , Chao, Hsiao-Tuan , Neale, Geoffrey , Carvill, Gemma L. , Wang, Zhaoming , Berkovic, Samuel F. , Sadleir, Lynette G. , Miller, Danny E. , Scheffer, Ingrid E. , Sadikovic, Bekim , Mefford, Heather C. , University of Washington Center for Rare Disease Research and Undiagnosed Diseases Network
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on...
Alternative Titles
Full title
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Authors, Artists and Contributors
Author / Creator
Rastin, Cassandra
Sengupta, Soham
Pennington, Helen E.
Russ-Hall, Sophie J.
Schneider, Amy L.
Bonkowski, Emily S.
Almanza Fuerte, Edith P.
Allan, Talia J.
Zalusky, Miranda Perez-Galey
Goffena, Joy
Gibson, Sophia B.
Nyaga, Denis M.
Lieffering, Nico
Hebbar, Malavika
Walker, Emily V.
Darnell, Daniel
Olsen, Scott R.
Kolekar, Pandurang
Djekidel, Mohamed Nadhir
Rosikiewicz, Wojciech
McConkey, Haley
Kerkhof, Jennifer
Levy, Michael A.
Relator, Raissa
Lev, Dorit
Lerman-Sagie, Tally
Park, Kristen L.
Alders, Marielle
Cappuccio, Gerarda
Chatron, Nicolas
Demain, Leigh
Genevieve, David
Lesca, Gaetan
Roscioli, Tony
Sanlaville, Damien
Tedder, Matthew L.
Gupta, Sachin
Jones, Elizabeth A.
Weisz-Hubshman, Monika
Ketkar, Shamika
Dai, Hongzheng
Worley, Kim C.
Rosenfeld, Jill A.
Chao, Hsiao-Tuan
Neale, Geoffrey
Carvill, Gemma L.
Wang, Zhaoming
Berkovic, Samuel F.
Sadleir, Lynette G.
Miller, Danny E.
Scheffer, Ingrid E.
Sadikovic, Bekim
Mefford, Heather C.
University of Washington Center for Rare Disease Research
Undiagnosed Diseases Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_56ab879163324f04934308a670c8a49d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56ab879163324f04934308a670c8a49d
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-50159-6
