Jorge L. Rodriguez-Gil

Medical Genetics | Pediatrics

5820 Owens Dr Bldg E 2nd Floor
Pleasanton, CA 94588

Last Updated: 09/26/2026

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Found 33 publications

Rapid Genomic Testing: A Study of Institutional Utilization and Outcomes.

Rapid Genomic Testing: A Study of Institutional Utilization and Outcomes.

Journal: American journal of medical genetics. Part A

Published: June 19, 2026

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine open

Published: September 29, 2025

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Journal: Journal of hematopathology

Published: February 03, 2025

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

Journal: International journal of molecular sciences

Published: March 20, 2024

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.

Journal: American journal of medical genetics. Part A

Published: November 01, 2023

Inbred SJL mice recapitulate human resistance to Cryptococcus infection due to differential immune activation.

Inbred SJL mice recapitulate human resistance to Cryptococcus infection due to differential immune activation.

Journal: mBio

Published: October 06, 2023

Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Journal: Human molecular genetics

Published: September 14, 2023

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Journal: Human molecular genetics

Published: November 09, 2021

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Journal: Scientific reports

Published: October 26, 2021

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.

Journal: American journal of medical genetics. Part A

Published: March 30, 2021

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Journal: Human molecular genetics

Published: March 17, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026