TY - JOUR AU - Manolio, T. A. AU - Collins, F. S. AU - Cox, N. J. AU - Goldstein, D. B. AU - Hindorff, L. A. AU - Hunter, D. J. PY - 2009 DA - 2009// TI - Finding the missing heritability of complex diseases JO - Nature. VL - 461 UR - https://doi.org/10.1038/nature08494 DO - 10.1038/nature08494 ID - Manolio2009 ER - TY - JOUR AU - Attia, J. AU - Ioannidis, J. P. AU - Thakkinstian, A. AU - McEvoy, M. AU - Scott, R. J. AU - Minelli, C. PY - 2009 DA - 2009// TI - How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JO - JAMA. VL - 301 UR - https://doi.org/10.1001/jama.2008.993 DO - 10.1001/jama.2008.993 ID - Attia2009 ER - TY - JOUR AU - Antonarakis, S. E. AU - Beckmann, J. S. PY - 2006 DA - 2006// TI - Mendelian disorders deserve more attention JO - Nat Rev Genet. VL - 7 UR - https://doi.org/10.1038/nrg1826 DO - 10.1038/nrg1826 ID - Antonarakis2006 ER - TY - JOUR AU - Peltonen, L. AU - McKusick, V. A. PY - 2001 DA - 2001// TI - Dissecting human disease in the postgenomic era JO - Science. VL - 291 UR - https://doi.org/10.1126/science.291.5507.1224 DO - 10.1126/science.291.5507.1224 ID - Peltonen2001 ER - TY - JOUR AU - Collins, F. S. AU - McKusick, V. A. PY - 2001 DA - 2001// TI - Implications of the Human Genome Project for medical science JO - JAMA. VL - 285 UR - https://doi.org/10.1001/jama.285.5.540 DO - 10.1001/jama.285.5.540 ID - Collins2001 ER - TY - JOUR AU - Lupski, J. R. AU - Reid, J. G. AU - Gonzaga-Jauregui, C. AU - Rio Deiros, D. AU - Chen, D. C. AU - Nazareth, L. PY - 2010 DA - 2010// TI - Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy JO - N Engl J Med. VL - 362 UR - https://doi.org/10.1056/NEJMoa0908094 DO - 10.1056/NEJMoa0908094 ID - Lupski2010 ER - TY - JOUR AU - Choi, M. AU - Scholl, U. I. AU - Ji, W. AU - Liu, T. AU - Tikhonova, I. R. AU - Zumbo, P. PY - 2009 DA - 2009// TI - Genetic diagnosis by whole exome capture and massively parallel DNA sequencing JO - Proc Natl Acad Sci U S A. VL - 106 UR - https://doi.org/10.1073/pnas.0910672106 DO - 10.1073/pnas.0910672106 ID - Choi2009 ER - TY - JOUR AU - Manolio, T. A. AU - Chisholm, R. L. AU - Ozenberger, B. AU - Roden, D. M. AU - Williams, M. S. AU - Wilson, R. PY - 2013 DA - 2013// TI - Implementing genomic medicine in the clinic: the future is here JO - Genet Med. VL - 15 UR - https://doi.org/10.1038/gim.2012.157 DO - 10.1038/gim.2012.157 ID - Manolio2013 ER - TY - JOUR AU - Teer, J. K. AU - Mullikin, J. C. PY - 2010 DA - 2010// TI - Exome sequencing: the sweet spot before whole genomes JO - Hum Mol Genet. VL - 19 UR - https://doi.org/10.1093/hmg/ddq333 DO - 10.1093/hmg/ddq333 ID - Teer2010 ER - TY - JOUR AU - Yang, Y. AU - Muzny, D. M. AU - Reid, J. G. AU - Bainbridge, M. N. AU - Willis, A. AU - Ward, P. A. PY - 2013 DA - 2013// TI - Clinical whole-exome sequencing for the diagnosis of mendelian disorders JO - N Engl J Med. VL - 369 UR - https://doi.org/10.1056/NEJMoa1306555 DO - 10.1056/NEJMoa1306555 ID - Yang2013 ER - TY - JOUR AU - Lee, H. AU - Deignan, J. L. AU - Dorrani, N. AU - Strom, S. P. AU - Kantarci, S. AU - Quintero-Rivera, F. PY - 2014 DA - 2014// TI - Clinical exome sequencing for genetic identification of rare mendelian disorders JO - JAMA. VL - 312 UR - https://doi.org/10.1001/jama.2014.14604 DO - 10.1001/jama.2014.14604 ID - Lee2014 ER - TY - JOUR AU - Yang, Y. AU - Muzny, D. M. AU - Xia, F. AU - Niu, Z. AU - Person, R. AU - Ding, Y. PY - 2014 DA - 2014// TI - Molecular findings among patients referred for clinical whole-exome sequencing JO - JAMA. VL - 312 UR - https://doi.org/10.1001/jama.2014.14601 DO - 10.1001/jama.2014.14601 ID - Yang2014 ER - TY - JOUR AU - Klitzman, R. AU - Appelbaum, P. S. AU - Chung, W. PY - 2013 DA - 2013// TI - Return of secondary genomic findings vs patient autonomy: implications for medical care JO - JAMA. VL - 310 UR - https://doi.org/10.1001/jama.2013.41709 DO - 10.1001/jama.2013.41709 ID - Klitzman2013 ER - TY - JOUR AU - Katsanis, S. H. AU - Katsanis, N. PY - 2013 DA - 2013// TI - Molecular genetic testing and the future of clinical genomics JO - Nat Rev Genet. VL - 14 UR - https://doi.org/10.1038/nrg3493 DO - 10.1038/nrg3493 ID - Katsanis2013 ER - TY - JOUR AU - Rehm, H. L. PY - 2013 DA - 2013// TI - Disease-targeted sequencing: a cornerstone in the clinic JO - Nat Rev Genet. VL - 14 UR - https://doi.org/10.1038/nrg3463 DO - 10.1038/nrg3463 ID - Rehm2013 ER - TY - JOUR AU - Xue, Y. AU - Ankala, A. AU - Wilcox, W. R. AU - Hegde, M. R. PY - 2015 DA - 2015// TI - Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing JO - Genet Med. VL - 17 UR - https://doi.org/10.1038/gim.2014.122 DO - 10.1038/gim.2014.122 ID - Xue2015 ER - TY - JOUR AU - Quail, M. A. AU - Smith, M. AU - Coupland, P. AU - Otto, T. D. AU - Harris, S. R. AU - Connor, T. R. PY - 2012 DA - 2012// TI - A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers JO - BMC Genomics. VL - 13 UR - https://doi.org/10.1186/1471-2164-13-341 DO - 10.1186/1471-2164-13-341 ID - Quail2012 ER - TY - STD TI - Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, et al. The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Genet Med 2014. 10.1038/gim.2014.184 ID - ref18 ER - TY - JOUR AU - Need, A. C. AU - Shashi, V. AU - Hitomi, Y. AU - Schoch, K. AU - Shianna, K. V. AU - McDonald, M. T. PY - 2012 DA - 2012// TI - Clinical application of exome sequencing in undiagnosed genetic conditions JO - J Med Genet. VL - 49 UR - https://doi.org/10.1136/jmedgenet-2012-100819 DO - 10.1136/jmedgenet-2012-100819 ID - Need2012 ER - TY - JOUR AU - Foo, J. -. N. AU - Liu, J. -. J. AU - Tan, E. -. K. PY - 2012 DA - 2012// TI - Whole-genome and whole-exome sequencing in neurological diseases JO - Nat Rev Neurol. VL - 8 UR - https://doi.org/10.1038/nrneurol.2012.148 DO - 10.1038/nrneurol.2012.148 ID - Foo2012 ER - TY - JOUR AU - Singleton, A. B. PY - 2011 DA - 2011// TI - Exome sequencing: a transformative technology JO - Lancet Neurol. VL - 10 UR - https://doi.org/10.1016/S1474-4422(11)70196-X DO - 10.1016/S1474-4422(11)70196-X ID - Singleton2011 ER - TY - JOUR AU - Alazami Anas, M. AU - Patel, N. AU - Shamseldin Hanan, E. AU - Anazi, S. AU - Al-Dosari Mohammed, S. AU - Alzahrani, F. PY - 2015 DA - 2015// TI - Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families JO - Cell Rep. VL - 10 UR - https://doi.org/10.1016/j.celrep.2014.12.015 DO - 10.1016/j.celrep.2014.12.015 ID - Alazami Anas2015 ER - TY - JOUR AU - Green, E. D. AU - Guyer, M. S. PY - 2011 DA - 2011// TI - Charting a course for genomic medicine from base pairs to bedside JO - Nature. VL - 470 UR - https://doi.org/10.1038/nature09764 DO - 10.1038/nature09764 ID - Green2011 ER - TY - JOUR AU - Soden, S. E. AU - Saunders, C. J. AU - Willig, L. K. AU - Farrow, E. G. AU - Smith, L. D. AU - Petrikin, J. E. PY - 2014 DA - 2014// TI - Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders JO - Sci Transl Med VL - 6 UR - https://doi.org/10.1126/scitranslmed.3010076 DO - 10.1126/scitranslmed.3010076 ID - Soden2014 ER - TY - JOUR AU - Dewey, F. E. AU - Grove, M. E. AU - Pan, C. AU - Goldstein, B. A. AU - Bernstein, J. A. AU - Chaib, H. PY - 2014 DA - 2014// TI - Clinical interpretation and implications of whole-genome sequencing JO - JAMA. VL - 311 UR - https://doi.org/10.1001/jama.2014.1717 DO - 10.1001/jama.2014.1717 ID - Dewey2014 ER - TY - JOUR AU - Ross, L. F. AU - Rothstein, M. A. AU - Clayton, E. W. PY - 2013 DA - 2013// TI - Mandatory extended searches in all genome sequencing: “incidental findings”, patient autonomy, and shared decision making JO - JAMA. VL - 310 UR - https://doi.org/10.1001/jama.2013.41700 DO - 10.1001/jama.2013.41700 ID - Ross2013 ER - TY - JOUR AU - Christenhusz, G. M. AU - Devriendt, K. AU - Dierickx, K. PY - 2012 DA - 2012// TI - To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts JO - Eur J Hum Genet. VL - 21 UR - https://doi.org/10.1038/ejhg.2012.130 DO - 10.1038/ejhg.2012.130 ID - Christenhusz2012 ER - TY - JOUR AU - Abdul-Karim, R. AU - Berkman, B. E. AU - Wendler, D. AU - Rid, A. AU - Khan, J. AU - Badgett, T. PY - 2013 DA - 2013// TI - Disclosure of incidental findings from next-generation sequencing in pediatric genomic research JO - Pediatrics. VL - 131 UR - https://doi.org/10.1542/peds.2012-0084 DO - 10.1542/peds.2012-0084 ID - Abdul-Karim2013 ER - TY - JOUR AU - Ku, C. S. AU - Cooper, D. N. AU - Polychronakos, C. AU - Naidoo, N. AU - Wu, M. AU - Soong, R. PY - 2012 DA - 2012// TI - Exome sequencing: dual role as a discovery and diagnostic tool JO - Ann Neurol. VL - 71 UR - https://doi.org/10.1002/ana.22647 DO - 10.1002/ana.22647 ID - Ku2012 ER - TY - JOUR AU - Khan, A. O. AU - Aldahmesh, M. A. AU - Alsharif, H. AU - Alkuraya, F. S. PY - 2015 DA - 2015// TI - Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype JO - Ophthalmic Genet. VL - 36 UR - https://doi.org/10.3109/13816810.2014.985847 DO - 10.3109/13816810.2014.985847 ID - Khan2015 ER - TY - JOUR AU - Saunders, C. J. AU - Miller, N. A. AU - Soden, S. E. AU - Dinwiddie, D. L. AU - Noll, A. AU - Alnadi, N. A. PY - 2012 DA - 2012// TI - Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units JO - Sci Transl Med VL - 4 UR - https://doi.org/10.1126/scitranslmed.3004041 DO - 10.1126/scitranslmed.3004041 ID - Saunders2012 ER - TY - STD TI - TMAP Alignment Program. https://github.com/iontorrent/TS. UR - https://github.com/iontorrent/TS ID - ref32 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hakonarson, H. PY - 2010 DA - 2010// TI - ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data JO - Nucleic Acids Res. VL - 38 UR - https://doi.org/10.1093/nar/gkq603 DO - 10.1093/nar/gkq603 ID - Wang2010 ER - TY - STD TI - Human Genome Browser. http://genome.ucsc.edu/cgi-bin/hgGateway. UR - http://genome.ucsc.edu/cgi-bin/hgGateway ID - ref34 ER - TY - STD TI - Database of Genomic Variants. http://projects.tcag.ca/variation/. UR - http://projects.tcag.ca/variation/ ID - ref35 ER - TY - STD TI - Human Genome Browser. http://genome.ucsc.edu/. UR - http://genome.ucsc.edu/ ID - ref36 ER - TY - STD TI - Mendliome Variants Database. http://shgp.kfshrc.edu.sa/bioinf/db/variants/mendliome/ UR - http://shgp.kfshrc.edu.sa/bioinf/db/variants/mendliome/ ID - ref37 ER - TY - STD TI - Saudi Human Genome Program. http://shgp.kacst.edu.sa/bioinf/db/variants/mendliome/ UR - http://shgp.kacst.edu.sa/bioinf/db/variants/mendliome/ ID - ref38 ER -