Nicholas Borja

13PUBLICATIONS

48CO-AUTHORS

Atmospheric aerosolsCancer geneticsSolid tumoursNeurogeneticsCell and nuclear division

Get your video featured.

Publish with JoVE

Get your video featured.

Publish with JoVE

Publications (13)

Sort by Publication Date:

|May 22, 2026

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

|Mar 18, 2026

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Nicholas A Borja, Anuja Sule, Katie Ann McMullen

|Jan 23, 2026

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

Nicholas Khuu, Marie Jeanjean, Talia Donenberg

|Sep 24, 2025

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

Emilie C Ung, Nicholas A Borja

|May 29, 2025

Novel <i>KMT2D</i> 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

Pageof 3

Frequent Collaborators

Mustafa Tekin

Zdeněk Sedláček

Katie Clarkson

Dana E Layo-Carris

Emily E Lubin

Annabel K Sangree

Rajesh Angireddy

Roberto Mendoza-Londono

2 joint publications

Lucie Dupuis

2 joint publications

Irene Valenzuela

Frequent Collaborators

Mustafa Tekin

Zdeněk Sedláček

Katie Clarkson

Dana E Layo-Carris