Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

By A. Rauch, D. Wieczorek, E. Graf, T. Wieland, S. Endele, T. Schwarzmayr, B. Albrecht, D. Bartholdi, J. Beygo, N. Di Donato and 29 more. The Lancet, 2012

1,054 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/3114b37e69cb6fc71d8fd46cf099bbc0603fd910

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Maximilian Hecht
2. Burkhard Rost
3. Yana Bromberg
4. Martin Kircher
5. Jay Shendure
6. Daniela M. Witten
7. Gregory M. Cooper
8. Brian J. O'Roak

In Molecular Biology

1. Yana Bromberg
2. Maximilian Hecht
3. Burkhard Rost
4. Martin Kircher
5. Jay Shendure
6. Daniela M. Witten
7. Gregory M. Cooper
8. Brian J. O'Roak

Citations in the corpus

• Transcript expression-aware annotation improves rare variant discovery and interpretation (2019, background): “…from trio studies of intellectual disability/developmental disorders (Hamdam et al( 27 ): n = 41, de Ligt et al( 28 ): N = 100, Rauch et al( 29 ): N = 51, DDD( 24 ): n = 4,293, Lelieveld et al( 26 ): n = 820), 1,073 probands with congenital heart disease with co-morbid developmental delay…”
• The world of protein acetylation. (2016, background): “R116W (exon 5), in an intellectual disability syndrome [123].”
• News from the protein mutability landscape. (2013, background): “7 variants (nsSNPs) that are novel with respect to both parents, that is, not observed in either parent [7].”