Nicholas Borja

14PUBLICATIONS
52CO-AUTHORS
Cancer geneticsNeurogeneticsCell and nuclear divisionCancer diagnosisGene expression (incl. microarray and other genome-wide approaches)
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Publications (14)

|Oct 28, 2026
Beliefs about Hereditary Susceptibility to Cancer and Desire to Know about a Genetic Predisposition: An Analysis of the NCI Health Information National Trends Survey.

|Sep 24, 2025
LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.

Emilie C Ung, Nicholas A Borja

|May 29, 2025
Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Francisco J López-Font, Sofia De Arrigunaga, Natasha F Santos da Cruz

|Dec 31, 2024
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Isha Harshe, Talia Donenberg, Marie Jeanjean

|Dec 18, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.

Kiana Magee, William McGonigle, Rena Pressman

|Dec 06, 2024
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.

Nicholas A Borja, Mohammad Faraz Zafeer, Stephanie Bivona

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Frequent Collaborators

4 joint publications

Mustafa Tekin

2 joint publications

Carmen Calfa

2 joint publications

Katie Clarkson

2 joint publications

Dana E Layo-Carris