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The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 675 - 681
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, p. 675
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability,... 
Proteins | Genotype & phenotype | Genetic disorders | Mutation | Gene expression
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 172 - 179
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2018, Volume 93, Issue 5, pp. 1022 - 1029
This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return... 
VUS subclassification | exome sequencing | result disclosure | decision regret | variant of uncertain significance | SELF-EFFICACY | RISK PERCEPTIONS | DISTRESS | BEHAVIOR | CARDIOMYOPATHY | GENOME | INTENTIONS | DECISIONS | GENETICS & HEREDITY | PARTICIPANTS | HEALTH BELIEF MODEL | Genomics | Genetic variance | Behavior | Cardiomyopathy | Heart diseases | VUS sub-classification
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2014, Volume 370, Issue 25, pp. 2418 - 2425
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2010, Volume 42, Issue 1, pp. 13 - 14
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 577 - 583
Purpose: This study investigated how genome sequencing results affect health behaviors, affect, and communication. Methods: We report on 29 participants who... 
genome | utility | outcomes | experiences | sequencing | VARIANTS | FUTURE | CANCER | INCIDENTAL FINDINGS | RETURN | PREFERENCES | DISEASE | GENETICS & HEREDITY | Humans | Middle Aged | Health Personnel - psychology | Male | Disclosure | Sequence Analysis, DNA | Genome, Human - genetics | Whole Exome Sequencing | Healthy Volunteers - psychology | Adult | Family | Female | Communication
Journal Article