Nicholas A. Borja

Nicholas A. Borja

Medical Genetics

1475 Northwest 12th Avenue
Miami, FL 33136

Last Updated: 09/26/2026

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Found 21 publications

Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia.

Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia.

Journal: American journal of medical genetics. Part A

Published: April 10, 2026

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Journal: Pediatric blood & cancer

Published: February 03, 2026

Impact of Hereditary Cancer Susceptibility in Solid-Organ Transplant Recipients.

Impact of Hereditary Cancer Susceptibility in Solid-Organ Transplant Recipients.

Journal: JCO precision oncology

Published: January 23, 2026

Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes.

Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes.

Journal: Frontiers in oncology

Published: December 23, 2025

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.

Journal: Journal of human genetics

Published: July 27, 2025

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Journal: Ophthalmic genetics

Published: May 29, 2025

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Journal: Molecular genetics and metabolism

Published: April 11, 2025

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.

Journal: Journal of human genetics

Published: September 17, 2024

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

Journal: American journal of human genetics

Published: August 28, 2024

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Journal: Journal of medical genetics

Published: August 22, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Journal: American journal of medical genetics. Part A

Published: June 01, 2024

Showing 1-12 of 21

Last Updated: 09/26/2026