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Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease
As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in com...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796713/ https://www.ncbi.nlm.nih.gov/pubmed/27047761 http://dx.doi.org/10.1016/j.atg.2016.01.002 |
| _version_ | 1782421824723746816 |
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| author | Collins, Christy |
| author_facet | Collins, Christy |
| author_sort | Collins, Christy |
| collection | PubMed |
| description | As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource. |
| format | Online Article Text |
| id | pubmed-4796713 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-47967132016-04-04 Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease Collins, Christy Appl Transl Genom Article As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource. Elsevier 2016-02-01 /pmc/articles/PMC4796713/ /pubmed/27047761 http://dx.doi.org/10.1016/j.atg.2016.01.002 Text en © 2016 The Author https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use. |
| spellingShingle | Article Collins, Christy Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title | Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title_full | Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title_fullStr | Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title_full_unstemmed | Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title_short | Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease |
| title_sort | phenotype with a side of genotype, please: patients, parents and priorities in rare genetic disease |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796713/ https://www.ncbi.nlm.nih.gov/pubmed/27047761 http://dx.doi.org/10.1016/j.atg.2016.01.002 |
| work_keys_str_mv | AT collinschristy phenotypewithasideofgenotypepleasepatientsparentsandprioritiesinraregeneticdisease |