Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

United States

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About

Dr. Nicholas Borja is an Assistant Professor of Clinical Genetics at the Leonard M. Miller School of Medicine, University of Miami, USA. His research focuses on genetic disorders, including neurodevelopmental disorders, ultra-rare monogenic presentations, and the impact of genetic variations on conditions such as Autism Spectrum Disorder and Kabuki Syndrome. Dr. Borja has contributed to the understanding of various genetic mechanisms and their clinical implications through his recent publications.

Articles (16)

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2025

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2023

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2023

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2023

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2022

Collaborators (5)

Mario Saporta

ASSOCIATE PROFESSOR

University of Miami School of Medicine

UNITED STATES

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Chu-Ting Chang

The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology

UNITED STATES

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Jacob McCauley

Professor

University of Miami Miller School of Medicine

UNITED STATES

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Mustafa Tekin

University of Miami

UNITED STATES

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Mariko Nakano-Okuno

The University of Alabama

UNITED STATES

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Nicholas Borja

Research Interests

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Articles (16)

ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder

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

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

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

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

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

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

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

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Triple Primary Cancers: An Analysis of Genetic and Environmental Factors

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome

Coffin-Siris syndrome and cancer susceptibility

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Collaborators (5)

Mario Saporta

Chu-Ting Chang

Jacob McCauley

Mustafa Tekin

Mariko Nakano-Okuno

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