Nicholas Borja
13PUBLICATIONS
48CO-AUTHORS
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Publications (13)
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|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
|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree
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Frequent Collaborators
4 joint publications
Mustafa Tekin
2 joint publications
Zdeněk Sedláček
2 joint publications
Katie Clarkson
2 joint publications
Dana E Layo-Carris
2 joint publications
Emily E Lubin
2 joint publications
Annabel K Sangree
2 joint publications
Rajesh Angireddy
2 joint publications
Roberto Mendoza-Londono
2 joint publications
Lucie Dupuis
2 joint publications
Irene Valenzuela