AGHI Presentations
AGHI PUBLICATIONS
AGHI PUBLICATIONS
The Alabama Genomic Health Initiative has led to new gene discoveries , positioning the state of Alabama as a leader on the forefront of 21st-century medicine .
AGHI Presentations
PUBLICATION TITLE SOURCE DATE PUBMED ID
De novo mutations in the GTP / GDP-binding region of RALA , a RAS-like small GTPase , cause intellectual disability and developmental delay
PLOS Genetics 11 / 30 / 2018 https :// pubmed . ncbi . nlm . nih . gov / 30500825 /
A YWHAZ variant associated with cardiofaciocutaneous syndrome activates the RAF-ERK pathway
Frontiers in Physiology 4 / 8 / 2019 https :// pubmed . ncbi . nlm . nih . gov / 31024343 /
Return of raw data in genomic testing and research : ownership , partnership , and risk-benefit
Genetics in Medicine 7 / 17 / 2019 https :// pubmed . ncbi . nlm . nih . gov / 31312044 /
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 |
3 / 27 / 2020 |
https :// pubmed . ncbi . nlm . nih . gov / 32220047 / |
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease , joint hyperlaxity , and scoliosis
A state-based approach to genomics for rare disease and population screening
Neurology Genetics 8 / 6 / 2020
Genetics in Medicine 9 / 27 / 2020 https :// pubmed . ncbi . nlm . nih . gov / 32802946 /
https :// pubmed . ncbi . nlm . nih . gov / 33244164 /
Identifying rare , medically relevant variation via population-based genomic screening in Alabama : opportunities and pitfalls
Genetics in Medicine 9 / 29 / 2020 https :// pubmed . ncbi . nlm . nih . gov / 32989269 /
Histone H3.3 beyond cancer : germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Science Advances 12 / 2 / 2020 https :// pubmed . ncbi . nlm . nih . gov / 33268356 /
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
American Journal of Medical Genetics |
1 / 31 / 2021 |
https :// pubmed . ncbi . nlm . nih . gov / 33522091 / |
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability , speech delay , and dysmorphism |
American Journal of Human Genetics |
6 / 3 / 2921 |
https :// pubmed . ncbi . nlm . nih . gov / 33909992 / |
Evaluation of population-level pharmacogenetic actionability in Alabama
Integration of genomics into primary care via the Alabama Genomic Health Initiative
Clinical Translational Science 11 / 1 / 2021
Genetics in Medicine 3 / 21 / 2022 https :// pubmed . ncbi . nlm . nih . gov / 34121327 /
https :// gimjournal . org / retrieve / pii / S1098360022005433
Deleterious , protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype |
American Journal of Human Genetics |
2 / 22 / 2023 |
https :// pubmed . ncbi . nlm . nih . gov / 36586412 / |
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk ?
Family Practice 2 / 28 / 2023 https :// pubmed . ncbi . nlm . nih . gov / 36856778 /
6 Alabama Genomic Health Initiative Annual Report 2022