Nature Communications (May 2018)
Identification of rare de novo epigenetic variations in congenital disorders
- 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
Affiliations
- Mafalda Barbosa
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Ricky S. Joshi
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Paras Garg
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Alejandro Martin-Trujillo
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Nihir Patel
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Bharati Jadhav
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Corey T. Watson
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- William Gibson
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Kelsey Chetnik
- School of Theoretical and Applied Sciences, Ramapo College of New Jersey
- Chloe Tessereau
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Hui Mei
- Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai
- Silvia De Rubeis
- The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
- Jennifer Reichert
- The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
- Fatima Lopes
- ICVS/3B’s PT Government Associate Laboratory, Life and Health Sciences Research Institute, School of Medicine, University of Minho
- Lisenka E. L. M. Vissers
- Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour
- Tjitske Kleefstra
- Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour
- Dorothy E. Grice
- The Division of Tics, OCD and Related Disorders, Department of Psychiatry, and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
- Lisa Edelmann
- Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai
- Gabriela Soares
- Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center
- Patricia Maciel
- ICVS/3B’s PT Government Associate Laboratory, Life and Health Sciences Research Institute, School of Medicine, University of Minho
- Han G. Brunner
- Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour
- Joseph D. Buxbaum
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Bruce D. Gelb
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Andrew J. Sharp
- The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- DOI
- https://doi.org/10.1038/s41467-018-04540-x
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 11
Abstract
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.
