Identification of rare de novo epigenetic variations in congenital disorders
A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients.
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Nature Portfolio
2018
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oai:doaj.org-article:c3972a885e1944d0a9ba9a3e3edb22642021-12-02T15:33:55ZIdentification of rare de novo epigenetic variations in congenital disorders10.1038/s41467-018-04540-x2041-1723https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb22642018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04540-xhttps://doaj.org/toc/2041-1723A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients.Mafalda BarbosaRicky S. JoshiParas GargAlejandro Martin-TrujilloNihir PatelBharati JadhavCorey T. WatsonWilliam GibsonKelsey ChetnikChloe TessereauHui MeiSilvia De RubeisJennifer ReichertFatima LopesLisenka E. L. M. VissersTjitske KleefstraDorothy E. GriceLisa EdelmannGabriela SoaresPatricia MacielHan G. BrunnerJoseph D. BuxbaumBruce D. GelbAndrew J. SharpNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-11 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Mafalda Barbosa Ricky S. Joshi Paras Garg Alejandro Martin-Trujillo Nihir Patel Bharati Jadhav Corey T. Watson William Gibson Kelsey Chetnik Chloe Tessereau Hui Mei Silvia De Rubeis Jennifer Reichert Fatima Lopes Lisenka E. L. M. Vissers Tjitske Kleefstra Dorothy E. Grice Lisa Edelmann Gabriela Soares Patricia Maciel Han G. Brunner Joseph D. Buxbaum Bruce D. Gelb Andrew J. Sharp Identification of rare de novo epigenetic variations in congenital disorders |
| description |
A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients. |
| format |
article |
| author |
Mafalda Barbosa Ricky S. Joshi Paras Garg Alejandro Martin-Trujillo Nihir Patel Bharati Jadhav Corey T. Watson William Gibson Kelsey Chetnik Chloe Tessereau Hui Mei Silvia De Rubeis Jennifer Reichert Fatima Lopes Lisenka E. L. M. Vissers Tjitske Kleefstra Dorothy E. Grice Lisa Edelmann Gabriela Soares Patricia Maciel Han G. Brunner Joseph D. Buxbaum Bruce D. Gelb Andrew J. Sharp |
| author_facet |
Mafalda Barbosa Ricky S. Joshi Paras Garg Alejandro Martin-Trujillo Nihir Patel Bharati Jadhav Corey T. Watson William Gibson Kelsey Chetnik Chloe Tessereau Hui Mei Silvia De Rubeis Jennifer Reichert Fatima Lopes Lisenka E. L. M. Vissers Tjitske Kleefstra Dorothy E. Grice Lisa Edelmann Gabriela Soares Patricia Maciel Han G. Brunner Joseph D. Buxbaum Bruce D. Gelb Andrew J. Sharp |
| author_sort |
Mafalda Barbosa |
| title |
Identification of rare de novo epigenetic variations in congenital disorders |
| title_short |
Identification of rare de novo epigenetic variations in congenital disorders |
| title_full |
Identification of rare de novo epigenetic variations in congenital disorders |
| title_fullStr |
Identification of rare de novo epigenetic variations in congenital disorders |
| title_full_unstemmed |
Identification of rare de novo epigenetic variations in congenital disorders |
| title_sort |
identification of rare de novo epigenetic variations in congenital disorders |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264 |
| work_keys_str_mv |
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