Publication: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Date
Date
Date
Citations
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., Hempel, M., Horn, D., Hoyer, J., Joset, P., Röpke, A., Moog, U., Riess, A., … Strom, T. M. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. The Lancet, 380(9854), 1674–1682. https://doi.org/10.1016/S0140-6736(12)61480-9
Abstract
Abstract
Abstract
BACKGROUND: The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about the position of such genes, and suitable screening methods. Our aim was to identify de-novo variants in individuals with sporadic non-syndromic intellectual disability. METHODS: In this study, we enrolled children with intellectual disability and their parents from ten centres in Germany and Switzerland. We compared exome sequences between patients and their parents to identify de-novo v
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Rauch, Anita
- Wieczorek, Dagmar
- Graf, Elisabeth
- Wieland, Thomas
- Endele, Sabine
- Schwarzmayr, Thomas
- Albrecht, Beate
- Bartholdi, Deborah
- Beygo, Jasmin
- Di Donato, Nataliya
- Dufke, Andreas
- Cremer, Kirsten
- Hempel, Maja
- Horn, Denise
- Hoyer, Juliane
- Joset, Pascal
- Röpke, Albrecht
- Moog, Ute
- Riess, Angelika
- Thiel, Christian T
- Tzschach, Andreas
- Wiesener, Antje
- Wohlleber, Eva
- Zweier, Christiane
- Ekici, Arif B
- Zink, Alexander M
- Rump, Andreas
- Meisinger, Christa
- Grallert, Harald
- Sticht, Heinrich
- Schenck, Annette
- Engels, Hartmut
- Rappold, Gudrun
- Schröck, Evelin
- Wieacker, Peter
- Riess, Olaf
- Meitinger, Thomas
- Reis, André
- Strom, Tim M
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Publisher DOI
Metrics
Downloads
Views
Citations
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., Hempel, M., Horn, D., Hoyer, J., Joset, P., Röpke, A., Moog, U., Riess, A., … Strom, T. M. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. The Lancet, 380(9854), 1674–1682. https://doi.org/10.1016/S0140-6736(12)61480-9
