References
- Sullivan PF , DalyMJ, O‘DonovanM. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat. Rev. Genet.13, 537–551 (2012).
- Colantuoni C , LipskaBK, YeTet al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature478, 519–523 (2011).
- Kang HJ , KawasawaYI, ChengFet al. Spatio-temporal transcriptome of the human brain. Nature478, 483–489 (2011).
- Veltman JA , BrunnerHG. De novo mutations in human genetic disease. Nat. Rev. Genet.13, 565–575 (2012).
- Zeng H , ShenEH, HohmannJGet al. Large-scale cellular-resolution gene profiling in human neocortex reveals species-specific molecular signatures. Cell149, 483–496 (2012).
- Ku CS , PolychronakosC, TanEKet al. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Mol. Psychiatry doi:10.1038/mp.2012.58. (2012) (Epub ahead of print).
- Singleton AB . Exome sequencing: a transformative technology. Lancet Neurol.10, 942–946 (2011).
- Ku CS , CooperDN, PolychronakosC, NaidooN, WuM, SoongR. Exome sequencing: dual role as a discovery and diagnostic tool. Ann. Neurol.71, 5–14 (2012).
- Miller DT , AdamMP, AradhyaSet al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet.86, 749–764 (2010).
- Manning M , HudginsL. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet. Med.12, 742–745 (2010).
- Gray VE , KukurbaKR, KumarS. Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations. Bioinformatics28, 2093–2096 (2012).
- Flanagan SE , PatchAM, EllardS. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet. Test Mol. Biomarkers14, 533–537 (2010).
- Grossmann V , KohlmannA, KleinHUet al. Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure. Leukemia25, 671–680 (2011).
- Bainbridge MN , WiszniewskiW, MurdockDRet al. Whole-genome sequencing for optimized patient management. Sci. Transl. Med.3(87), 87re3 (2011).
- Escolar ML , PoeMD, ProvenzaleJMet al. Transplantation of umbilical-cord blood in babies with infantile Krabbe‘s disease. N. Engl. J. Med.352, 2069–2081 (2005).
- Prasad VK , KurtzbergJ. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br. J. Haematol.148, 356–372 (2010).
- Stieger K , CroninT, BennettJ, RollingF. Adeno-associated virus mediated gene therapy for retinal degenerative diseases. Methods Mol. Biol.807, 179–218 (2011).
Websites
- OMIM®, Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/omim
- Duke Task Force for Neonatal Genomics. www.dukegenes.org