Author:
Conroy Judith,Allen Nicholas M,Gorman Kathleen,O'Halloran Eoghan,Shahwan Amre,Lynch Bryan,Lynch Sally A,Ennis Sean,King Mary D
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference6 articles.
1. Srour, M., Mandan, F. F., Gan-Or, Z., Labuda, D., Nassif, C., Oskoui, M. et al. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clin. Genet. 88, e1–e4 (2015).
2. Damseh, N., Simonin, A., Jalas, C., Picoraro, J. A., Shaag, A., Cho, M.T. et al. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J. Med. Genet. 52, 541–547 (2015).
3. Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi, D., Hoffmann, C. et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin. Genet. 88, 327–335 (2015).
4. Exome Aggregation Consortium,Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E. et al. Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv. (e-pub ahead of print 30 October 2015; doi:10.1101/030338).
5. NHLBI GO Exome Sequencing Project Exome Variant Server (2016) http://evs.gs.washington.edu/EVS/. Accessed 7 October 2015.
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