Diagnostic exome sequencing in persons with severe intellectual disability.
By J. de Ligt, M. Willemsen, B. V. van Bon, T. Kleefstra, H. Yntema, Thessa Kroes, A. V. Vulto-van Silfhout, D. Koolen, P. D. de Vries, C. Gilissen and 7 more. New England Journal of Medicine, 2012
1,460 citations recorded by the source corpus.
Subfields: Genetics
View Paper: https://www.semanticscholar.org/paper/09dfabd9c1911f3c741252594f2cb390b2156d62
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In Genetics
- Joseph A. Marsh
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Citations in the corpus
- Transcript expression-aware annotation improves rare variant discovery and interpretation (2019, background): “…identified in 5,305 probands 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…”
- AXONAL TRANSPORT: CARGO-SPECIFIC MECHANISMS OF MOTILITY AND REGULATION (2014, neutral): “…al., 2012; Willemsen et al., 2012; Poirier et al., 2013; Fiorillo et al., 2014 Kinesin-1 KIF5A, KIF5C HSP (SPG10), ID, MCD Ebbing et al., 2008; de Ligt et al., 2012; Poirier et al., 2013 Kinesin-13 KIF2A CDCBM3/MCD Poirier et al., 2013 Kinesin-3 KIF1A, KIF1B, KIF1C HSP (SPG30), CMT2A, HSN, MR,…”
- Prevalence and architecture of de novo mutations in developmental disorders (2017, neutral): “7 x 10-9 DDD No SUV420H1 0 (2) 2 (3) 2.”
- A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS (2016, background): “For EPI we identify n =210 mutations with 184 missense [32], and for ID we have n =114 mutations with 99 missense [33, 34].”