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1.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet
; 26(24): 4849-4860, 2017 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29036646
2.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37723522
3.
Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4.
N Engl J Med
; 364(9): 885-6, 2011 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-21366490
4.
Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.
Front Public Health
; 7: 40, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30915323
5.
Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.
Front Public Health
; 7: 41, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30915324
6.
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis Oncol
; 22018.
Artículo
en Inglés
| MEDLINE | ID: mdl-31517176
7.
Renal tumors associated with germline SDHB mutation show distinctive morphology.
Am J Surg Pathol
; 35(10): 1578-85, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21934479
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