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De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability
Matias G De Vas, Myles G Garstang, Shweta S Joshi, Tahir Khan, Goutham Atla, David Parry, David Moore, Ines Cebola, Shuchen Zhang, Wei Cui, Anne K Lampe, Wayne W Lam, David R FitzPatrick, Madapura M Pradeepa, View ORCID ProfileSantosh S Atanur
doi: https://doi.org/10.1101/621029
Matias G De Vas
1Department of Medicine, Faculty of Medicine, Imperial College London, London, W12 0NN
Myles G Garstang
2Blizard institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT
3School of Biological Sciences, University of Essex, Colchester, CO4 3SQ
Shweta S Joshi
1Department of Medicine, Faculty of Medicine, Imperial College London, London, W12 0NN
Tahir Khan
2Blizard institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT
Goutham Atla
1Department of Medicine, Faculty of Medicine, Imperial College London, London, W12 0NN
4CIBER de Diabetes y Enfermedades Metabólicas Asociadas, Spain
5Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain
David Parry
6MRC Human Genetics Unit, University of Edinburgh, EH4 2XU
David Moore
7South-East Scotland Regional Genetics Service, Western General Hospital, Edinburgh EH4 2XU
Ines Cebola
1Department of Medicine, Faculty of Medicine, Imperial College London, London, W12 0NN
Shuchen Zhang
8Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College London, London, W12 0NN
Wei Cui
8Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College London, London, W12 0NN
Anne K Lampe
7South-East Scotland Regional Genetics Service, Western General Hospital, Edinburgh EH4 2XU
Wayne W Lam
7South-East Scotland Regional Genetics Service, Western General Hospital, Edinburgh EH4 2XU
David R FitzPatrick
6MRC Human Genetics Unit, University of Edinburgh, EH4 2XU
Madapura M Pradeepa
2Blizard institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT
3School of Biological Sciences, University of Essex, Colchester, CO4 3SQ
Santosh S Atanur
1Department of Medicine, Faculty of Medicine, Imperial College London, London, W12 0NN
9Previous institute: Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh EH4 2XU
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Posted April 28, 2019.
De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability
Matias G De Vas, Myles G Garstang, Shweta S Joshi, Tahir Khan, Goutham Atla, David Parry, David Moore, Ines Cebola, Shuchen Zhang, Wei Cui, Anne K Lampe, Wayne W Lam, David R FitzPatrick, Madapura M Pradeepa, Santosh S Atanur
bioRxiv 621029; doi: https://doi.org/10.1101/621029
De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability
Matias G De Vas, Myles G Garstang, Shweta S Joshi, Tahir Khan, Goutham Atla, David Parry, David Moore, Ines Cebola, Shuchen Zhang, Wei Cui, Anne K Lampe, Wayne W Lam, David R FitzPatrick, Madapura M Pradeepa, Santosh S Atanur
bioRxiv 621029; doi: https://doi.org/10.1101/621029
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