Jorge L Rodriguez-Gil
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Explore the profile of Jorge L Rodriguez-Gil including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
1589
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Recent Articles
1.
Rodriguez-Gil J, Nagy P, Francke U
Am J Med Genet A
. 2024 Jul;
194(12):e63814.
PMID: 39011850
We report a 17-year-old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder. Fluorescent...
2.
Farhat N, Alexander D, McKee K, Iben J, Rodriguez-Gil J, Wassif C, et al.
Int J Mol Sci
. 2024 Apr;
25(8).
PMID: 38673803
Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same...
3.
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia
Ochs-Balcom H, Preus L, Du Z, Elston R, Teerlink C, Jia G, et al.
Hum Mol Genet
. 2024 Jan;
33(8):687-697.
PMID: 38263910
Background: Expansion of genome-wide association studies across population groups is needed to improve our understanding of shared and unique genetic contributions to breast cancer. We performed association and replication studies...
4.
Gao G, Zhao F, Ahearn T, Lunetta K, Troester M, Du Z, et al.
Hum Mol Genet
. 2022 May;
31(18):3133-3143.
PMID: 35554533
Polygenic risk scores (PRSs) are useful for predicting breast cancer risk, but the prediction accuracy of existing PRSs in women of African ancestry (AA) remains relatively low. We aim to...
5.
Baxter L, Watkins-Chow D, Johnson N, Farhat N, Platt F, Dale R, et al.
Sci Rep
. 2022 Feb;
12(1):2162.
PMID: 35140266
Niemann-Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from...
6.
Davidson C, Gibson A, Gu T, Baxter L, Deverman B, Beadle K, et al.
Life Sci Alliance
. 2021 Aug;
4(10).
PMID: 34407999
Niemann-Pick C1 disease (NPC1) is a rare, fatal neurodegenerative disease caused by mutations in , which encodes the lysosomal cholesterol transport protein NPC1. Disease pathology involves lysosomal accumulation of cholesterol...
7.
Rodriguez-Gil J, Baxter L, Watkins-Chow D, Johnson N, Davidson C, Carlson S, et al.
Hum Mol Genet
. 2021 Jul;
30(24):2456-2468.
PMID: 34296265
The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and...
8.
Adedokun B, Du Z, Gao G, Ahearn T, Lunetta K, Zirpoli G, et al.
Nat Commun
. 2021 Jul;
12(1):4198.
PMID: 34234117
Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS...
9.
Rodriguez-Gil J, Bianconi S, Farhat N, Kleiner D, Nelson M, Porter F
Am J Med Genet A
. 2021 Jun;
185(10):3111-3117.
PMID: 34138521
Niemann-Pick disease type C (NPC) is a rare and fatal lysosomal storage disorder characterized by neurodegeneration and hepatic involvement. Mutations in either NPC1 or NPC2, two genes encoding lysosomal proteins,...
10.
Du Z, Gao G, Adedokun B, Ahearn T, Lunetta K, Zirpoli G, et al.
J Natl Cancer Inst
. 2021 Mar;
113(9):1168-1176.
PMID: 33769540
Background: Polygenic risk scores (PRSs) have been demonstrated to identify women of European, Asian, and Latino ancestry at elevated risk of developing breast cancer (BC). We evaluated the performance of...