Bibliography for LQN100 BETA

Ada Hamosh  MD,  MPH. 2016. ‘Clinical Case Studies Illustrating Genetic Principles’. In Thompson & Thompson Genetics in Medicine, Eighth Edition, 394–95. Elsevier. https://www-clinicalkey-com-au.ezp01.library.qut.edu.au/#!/content/book/3-s2.0-B9781437706963000200?scrollTo=%23sc0015.

Augui, Sandrine, Elphège P. Nora, and Edith Heard. 2011. ‘Regulation of X-Chromosome Inactivation by the X-Inactivation Centre’. Nature Reviews Genetics 12 (6): 429–42. https://doi.org/10.1038/nrg2987.

Bennett, Robin LFrench, Kathryn SteinhausResta, Robert GDoyle, Debra Lochner. n.d. ‘Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors’. Journal of Genetic Counseling 17: 424–33. https://www.proquest.com/docview/218649564?accountid=13380.

Boyd, J. D., and W. J. Hamilton. 1967. ‘Foetus--or Fetus?’ BMJ 1 (5537): 425–425. https://doi.org/10.1136/bmj.1.5537.425.

Brown, Carolyn JBallabio, Andreaet al. n.d. ‘A Gene from the Region of the Human X Inactivation Centre Is Expressed Exclusively from the Inactive X Chromosome’. Nature 349 (9): 38–44. https://www.proquest.com/docview/204459124?accountid=13380.

D. Peter Snustad , and  Michael J. Simmons. 2015a. ‘Chapter 15: Genomics (Chapter Portion)’. In Principles of Genetics, 7th ed., 387–95. Wiley. https://ebookcentral.proquest.com/lib/qut/reader.action?docID=4806596&ppg=401.

———. 2015b. ‘Chapter 15: Genomics (Chapter Portion)’. In Principles of Genetics, 7th ed., 387–95. Wiley. https://ebookcentral.proquest.com/lib/qut/reader.action?docID=4806596&ppg=401.

Disteche, Christine MBerletch, Joel B. 2015. ‘X-Chromosome Inactivation and Escape’. Journal of Genetics 94 (4): 591–99. https://www.proquest.com/docview/1754491907?accountid=13380.

Dobyns, William B., Allison Filauro, Brett N. Tomson, April S. Chan, Allen W. Ho, Nicholas T. Ting, Jan C. Oosterwijk, and Carole Ober. 2004. ‘Inheritance of Most X-Linked Traits Is Not Dominant or Recessive, Just X-Linked’. American Journal of Medical Genetics 129A (2): 136–43. https://doi.org/10.1002/ajmg.a.30123.

Esteller, Manel. n.d. ‘Non-Coding RNAs in Human Disease’. Nature Reviews. Genetics 12: 861–74. https://www.proquest.com/docview/905092976?accountid=13380.

Frenette, Paul SAtweh, George F. n.d. ‘Sickle Cell Disease: Old Discoveries, New Concepts, and Future Promise’ 117 (7): 850–58. https://www.proquest.com/docview/200538792?accountid=13380.

Hamamy, Hanan, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia Temtamy, Giovanni Romeo, Leo P. Ten Kate, Robin L. Bennett, et al. 2011. ‘Consanguineous Marriages, Pearls and Perils: Geneva International Consanguinity Workshop Report’. Genetics in Medicine 13 (9): 841–47. https://doi.org/10.1097/GIM.0b013e318217477f.

Harrow, J., A. Frankish, J. M. Gonzalez, E. Tapanari, M. Diekhans, F. Kokocinski, B. L. Aken, et al. 2012. ‘GENCODE: The Reference Human Genome Annotation for The ENCODE Project’. Genome Research 22 (9): 1760–74. https://doi.org/10.1101/gr.135350.111.

Houtgraaf, Jaco H., Jorie Versmissen, and Wim J. van der Giessen. 2006. ‘A Concise Review of DNA Damage Checkpoints and Repair in Mammalian Cells’. Cardiovascular Revascularization Medicine 7 (3): 165–72. https://doi.org/10.1016/j.carrev.2006.02.002.

Jensen, Ole N. n.d. ‘Interpreting the Protein Language Using Proteomics’. Nature Reviews. Molecular Cell Biology 7 (6): 391–403. https://www.proquest.com/docview/224665544?accountid=13380.

Jesse D. Riordan and Joseph H. Nadeau. 2017. ‘From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health’. American Journal of Human Genetics 101 (2): 177–91. https://doi.org/10.1016/j.ajhg.2017.06.004.

Knudsen, Gun Peggy. 2009. ‘Gender Bias in Autoimmune Diseases’. Journal of the Neurological Sciences 286 (1–2): 43–46. https://doi.org/10.1016/j.jns.2009.04.022.

Korf, Bruce R., and Mira B. Irons. 2013. ‘The Human Genome’. In Human Genetics and Genomics, 4th Revised edition, 77–82. Hoboken: John Wiley and Sons Ltd.

Lam, Jenny K WChow, Michael Y TZhang, YuLeung, Susan W S. n.d. ‘siRNA Versus miRNA as Therapeutics for Gene Silencing’. Molecular Therapy. Nucleic Acids 4: 745–47. https://www.proquest.com/docview/1796352097?accountid=13380.

Lander, Eric S., Lauren M. Linton, Bruce Birren, Chad Nusbaum, Michael C. Zody, Jennifer Baldwin, Keri Devon, et al. 2001. ‘Initial Sequencing and Analysis of the Human Genome’. Nature 409 (6822): 860–921. https://doi.org/10.1038/35057062.

Maria Kousi and Nicholas Katsanis. 2015. ‘Genetic Modifiers and Oligogenic Inheritance’. Cold Spring Harbor Perspectives in Medicine 5 (6 (Article 017145)). https://doi.org/10.1101/cshperspect.a017145.

Nussbaum, Robert, L., McInness, Roderick, R., and Willard, Huntinton, F. 2016. ‘Introduction to the Human Genome’. In Thompson & Thompson Genetics in Medicine, 8th ed., 3–20. Elsevier. https://www.clinicalkey.com.au/#!/content/book/3-s2.0-B9781437706963000029.

Pan, Qun, Ofer Shai, Leo J Lee, Brendan J Frey, and Benjamin J Blencowe. 2008a. ‘Deep Surveying of Alternative Splicing Complexity in the Human Transcriptome by High-Throughput Sequencing’. Nature Genetics 40 (12): 1413–15. https://doi.org/10.1038/ng.259.

———. 2008b. ‘Deep Surveying of Alternative Splicing Complexity in the Human Transcriptome by High-Throughput Sequencing’. Nature Genetics 40 (12): 1413–15. https://doi.org/10.1038/ng.259.

Pink, R. C., K. Wicks, D. P. Caley, E. K. Punch, L. Jacobs, and D. R. Francisco Carter. 2011. ‘Pseudogenes: Pseudo-Functional or Key Regulators in Health and Disease?’ RNA 17 (5): 792–98. https://doi.org/10.1261/rna.2658311.

Qun Pan,Ofer Shai,Leo J. Lee,Brendan J. Frey,Benjamin J. Blencowe. n.d. ‘Deep Surveying of Alternative Splicing Complexity in the Human Transcriptome by High-Throughput Sequencing’. Nature Genetics. http://go.galegroup.com/ps/i.do?p=HRCA&u=qut&id=GALE|A192498260&v=2.1&it=r&sid=summon&authCount=1#.

Robert L. Nussbaum  MD,  FACP,  FACMG. 2016a. ‘Patterns of Single-Gene Inheritance’. In Thompson & Thompson Genetics in Medicine, 8th ed., 107–32. Elsevier. https://www.clinicalkey.com.au/#!/content/book/3-s2.0-B9781437706963000078.

———. 2016b. ‘The Human Genome: Gene Structure and Function’. In Thompson & Thompson Genetics in Medicine, Eighth Edition, 21–32. Elsevier. https://www-clinicalkey-com-au.ezp01.library.qut.edu.au/#!/content/book/3-s2.0-B9781437706963000030.

Rodenhiser, D. 2006. ‘Epigenetics and Human Disease: Translating Basic Biology into Clinical Applications’. Canadian Medical Association Journal 174 (3): 341–48. https://doi.org/10.1503/cmaj.050774.

Schoenwolf, Gary C., Steven B. Bleyl, Philip R. Brauer, P. H. Francis-West, and William J. Larsen. n.d. Larsen’s Human Embryology. Fifth edition. http://qut.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=2724006090004001&institutionId=4001&customerId=4000.

Snustad, D. Peter, and Michael J. Simmons. 2015. ‘Chapter 3: Mendelism: The Basic Principles of Inheritance’. In Principles of Genetics, 7th ed., 40–61. Wiley. https://ebookcentral.proquest.com/lib/qut/reader.action?docID=4806596&ppg=62&c=UERG.

———. 2016. ‘Chapter 4: Extensions of Mendelism’. In Principles of Genetics, 7th ed., 62–87. Wiley. https://ebookcentral.proquest.com/lib/qut/reader.action?docID=4806596&ppg=84&c=UERG.

‘The ENCODE (ENCyclopedia Of DNA Elements) Project’. 2004. Science 306 (5696): 636–40. https://doi.org/10.1126/science.1105136.