Trevor L. Hoffman

Medical Genetics | Pediatrics

1188 N Euclid St
Scpmg- Kaiser Permanente
Anaheim, CA 92801

Last Updated: 09/26/2026

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Found 24 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.

Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.

Journal: Hereditary cancer in clinical practice

Published: January 18, 2026

Expanding Germline Hereditary Cancer Gene Panel Testing by Nongenetics Providers: 3-Year Experience in Large Integrated Health Care Delivery System.

Expanding Germline Hereditary Cancer Gene Panel Testing by Nongenetics Providers: 3-Year Experience in Large Integrated Health Care Delivery System.

Journal: JCO oncology practice

Published: February 28, 2025

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Journal: American journal of medical genetics. Part A

Published: January 05, 2025

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Journal: Genetics in medicine open

Published: April 06, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications

Published: February 06, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: Nature communications

Published: August 09, 2023

Pediatric Rectal Adenocarcinoma With Mismatch Repair Deficiency Responds to Immunotherapy.

Pediatric Rectal Adenocarcinoma With Mismatch Repair Deficiency Responds to Immunotherapy.

Journal: JCO precision oncology

Published: April 13, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026