This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.
S. Ali-Khan , A. Daar , C. Shuman , P. Ray , & S. Scherer (2009). Whole genome scanning: Resolving clinical diagnosis and management amidst complex data. Pediatric Research, 66, 357–363.
M. J. H. Baars , A. J. J. A. Scherpbier , L. W. Schuwirth , L. Henneman , F. A. Beemer , J. M. Cobben ,. . .L. P. ten Kate (2005). Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genetics in Medicine, 7, 295–301.
J. S. Berg , M. J. Khoury , & J. P. Evans (2011). Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genetics in Medicine, 13, 499–504.
L. G. Biesecker (2012). Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project. Genetics in Medicine, 14, 393–398.
P. Borry , L. Henneman , P. Lakeman , ten L. P. Kate , M. C. Cornel , & H. C. Howard (2011). Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Human Reproduction, 26, 972–977.
D. L. Bruno , S. M. White , D. Ganesamoorthy , T. Burgess , K. Butler , S. Corrie ,. . .H. R. Slater (2011). Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. Journal of Medical Genetics, 48, 831–839.
J. Corbin , & A. Strauss (1990). Grounded theory research: procedures, canons, and evaluative criteria. Qualitative Sociology, 13, 3–21.
S. Darilek , P. Ward , A. Pursley , K. Plunkett , P. Furman , P. Magoulas ,. . .C. M. Eng (2008). Pre-and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genetics in Medicine, 10, 13–18.
N. R. Downing , J. K. Williams , S. Daack-Hirsch , M. Driessnack , & C. M. Simon (2013). Genetics specialists’ perspectives on disclosure of genomic incidental findings in the clinical setting. Patient Education and Counseling, 90, 133–138.
W. G. Feero , A. E. Guttmacher , H. C. Mefford , M. L. Batshaw , & E. P. Hoffman (2012). Genomics, intellectual disability, and autism. The New England Journal of Medicine, 366, 733–743.
A. Gijsbers , J. Lew , C. Bosch , J. Schuurs-Hoeijmakers , A. van Haeringen , N. den Hollander ,. . .E. Bakker (2009). A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: Test arrays first. European Journal of Human Genetics, 17, 1394–1402.
R. Green , J. Berg , G. Berry , & L. Biesecker (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14, 405–410.
E. K. Harvey , C. E. Fogel , M. Peyrot , K. D. Christensen , S. F. Terry , & J. D. McInerney (2007). Providers’ knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. Genetics in Medicine, 9, 259–267.
E. J. F. Houwink , L. Henneman , M. Westerneng , S. J. van Luijk , M. C. Cornel , J. G. Dinant , & C. van der Vleuten (2012). Prioritization of future genetics education for general practitioners: A Delphi study. Genetics in Medicine, 14, 323–329.
X. Lu , C. A. Shaw , A. Patel , J. Li , M. L. Cooper , W. R. Wells ,. . .P. A. Ward (2007). Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases. PLoS ONE, 2, e327.
S. Metcalfe , R. Hurworth , J. Newstead , & R. Robins (2002). Needs assessment study of genetics education for general practitioners in Australia. Genetics in Medicine, 4, 71–77.
D. T. Miller , M. P. Adam , S. Aradhya , L. G. Biesecker , A. R. Brothman , N. P. Carter ,. . .D. H. Ledbetter (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86, 749–764.
A. C. Need , V. Shashi , Y. Hitomi , K. Schoch , K. V. Shianna , M. T. McDonald ,. . .D. B. Goldstein (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49, 353–361.
E. E. Palmer , G. B. Peters , & D. Mowat (2012). Chromosome microarray in Australia: A guide for paediatricians. Journal of Paediatrics and Child Health, 48, E59–E67.
M. Reiff , B. A. Bernhardt , S. Mulchandani , D. Soucier , D. Cornell , R. E. Pyeritz , & N. B. Spinner (2012). ‘What does it mean?’: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine, 14, 250–258.
M. Reiff , K. Ross , S. Mulchandani , K. J. Propert , R. E. Pyeritz , N. B. Spinner , & B. A. Bernhardt (2013). Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clinical Genetics, 83, 23–30.
S. Topper , C. Ober , & S. Das (2011). Exome sequencing and the genetics of intellectual disability. Clinical Genetics, 80, 117–126.