AGHI PUBLICATIONS
The Alabama Genomic Health Initiative is positioning the state of Alabama as a leader on the forefront of 21st-century medicine .
AGHI Presentations
PUBLICATION TITLE SOURCE DATE PUBMED ID
AGHI PUBLICATIONS
Return of raw data in genomic testing and research : ownership , partnership , and risk-benefit
Genetics in Medicine 07 / 17 / 2019 https :// doi . org / 10.1038 / s41436-019-0607-x
Recruiting diversity where it exists : The Alabama Genomic Health Initiative |
Journal of Genetic Counseling , Special Issue : Minority and Health Disparities in Research and Practice in Genetic Counseling and Genomic Medicine Special Issue – Part 2 |
03 / 27 / 2020 |
https :// doi . org / 10.1002 / jgc4.1258 |
Identifying rare , medically relevant variation via population-based genomic screening in Alabama : opportunities and pitfalls
Genetics in Medicine 09 / 29 / 2020 https :// doi . org / 10.1038 / s41436-020-00976-z
A YWHAZ variant associated with cardiofaciocutaneous syndrome activates the RAF-ERK pathway
Frontiers in Physiology 04 / 08 / 2019 https :// doi . org / 10.3389 / fphys . 2019.00388
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease , joint hyperlaxity , and scoliosis
Histone H3.3 beyond cancer : germline mutations in histone 3 family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Neurology Genetics 08 / 06 / 2020
Science Advances 12 / 02 / 2020 https :// doi . org / 10.1212 / NXG . 0000000000000476
https :// doi . org / 10.1126 / sciadv . abc9207
A state-based approach to genomics for rare disease and population screening
Genetics in Medicine 09 / 27 / 2020 https :// doi . org / 10.1038 / s41436-020-01034-4
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
American Journal of Medical Genetics https :// doi . org / 10.1002 / ajmg . a . 62102
Evaluation of population-level pharmacogenetic actionability in Alabama |
Clinical Translational Science |
11 / 01 / 2021 |
https :// doi . org / 10.1111 / cts . 13097 |
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