@article {347,
	title = {Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.},
	journal = {Eur J Hum Genet},
	volume = {25},
	year = {2017},
	month = {2017 05},
	pages = {530-537},
	abstract = {<p>Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3\%) chose to receive SF and PR, 66 (8.4\%) chose PR only, 65 (8.2\%) wanted no results, and 40 (5.1\%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79\%, P=0.009) and European ancestry (EA) (87.7 vs 73\%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82\% NEA vs 88.3\% EA, P=0.09) but significantly less likely when consented by a physician (67.4\% NEA vs 85.4\% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95\% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7\% NEA vs 5.4\% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20\% declined some or all results, highlighting the importance of research participant choice.</p>},
	keywords = {Databases, Genetic, Female, Genetic Diseases, Inborn, Genome, Human, Genome-Wide Association Study, Humans, Male, Pedigree, Research Subjects},
	issn = {1476-5438},
	doi = {10.1038/ejhg.2017.21},
	author = {Fiallos, Katie and Applegate, Carolyn and Mathews, Debra Jh and Bollinger, Juli and Bergner, Amanda L and James, Cynthia A}
}
@article {36,
	title = {KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.},
	journal = {Ann Neurol},
	volume = {80},
	year = {2016},
	month = {2016 Oct},
	pages = {633-7},
	abstract = {<p>Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. We propose that alteration and elongation of the carboxy-terminus of the protein has a dominant-negative effect, causing mitochondrial dysfunction in the setting of an abnormal kinesin "motor." These results highlight the role of expanded testing and whole-exome sequencing in critically ill infants and emphasize the importance of accurate test interpretation. Ann Neurol 2016;80:633-637.</p>},
	keywords = {Apnea, Child, Preschool, Deglutition Disorders, Developmental Disabilities, Fatal Outcome, Female, Frameshift Mutation, Humans, Infant, Kinesins, Male, Mitochondrial Diseases, Muscle Hypotonia, Mutation, Myoclonus, Optic Nerve},
	issn = {1531-8249},
	doi = {10.1002/ana.24744},
	author = {Duis, Jessica and Dean, Shannon and Applegate, Carolyn and Harper, Amy and Xiao, Rui and He, Weimin and Dollar, James D and Sun, Lisa R and Waberski, Marta Biderman and Crawford, Thomas O and Hamosh, Ada and Stafstrom, Carl E}
}
