Publications by authors named "Nicholas Borja"

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LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.
Emilie C Ung, Nicholas A Borja

J Hum Genet· February 2026

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Novel 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, Jason C Fan, Serena M Shah, Nicholas A Borja

Ophthalmic Genet· October 2025

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Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.
Elizabeth G Ames, Nicholas A Borja, Russell J Butterfield, Dustin R Donald, Jeanine R Jarnes

Mol Genet Metab· October 2025

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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja

Am J Hum Genet· April 2025

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Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
Kiana Magee, William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth, Nicholas A Borja

J Hum Genet· March 2025

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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Nicholas A Borja, Rory J Tinker, Stephanie A Bivona, Carson A Smith, Theodore Krijnse Locker

Am J Med Genet A· February 2025

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Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
Isha Harshe, Talia Donenberg, Marie Jeanjean, Jesus Ramirez Castano, Frankie Fann, Nicholas A Borja

J Med Genet· February 2025

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-associated peripheral neuropathy defined by impaired binding with TUBB3.
Nicholas A Borja, Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart, Sakir Humayun Gultekin

J Med Genet· January 2025

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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, Kelly J Clark, Emily L Durham, Nicholas A Borja

Eur J Hum Genet· August 2024

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Correction: 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, Kelly J Clark, Emily L Durham, Nicholas A Borja

Eur J Hum Genet· August 2024

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Triple Primary Cancers: An Analysis of Genetic and Environmental Factors.
Nicholas A Borja, Rachel Silva-Smith, Carmen Calfa, Daniel A Sussman, Mustafa Tekin

Cancer Prev Res (Phila)· May 2024

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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja

Ann Clin Transl Neurol· April 2024

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H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez

Am J Med Genet A· July 2023

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Coffin-Siris syndrome and cancer susceptibility.
Nicholas A Borja, Samantha A Schrier Vergano, Mustafa Tekin

Genet Med Open· May 2023

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Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Nicholas Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson

Am J Med Genet A· April 2023

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Atypical : Broadening the phenotypic spectrum of -associated hereditary cancer.
Nicholas A Borja, Rachel Silva-Smith, Marilyn Huang, Dipen J Parekh, Daniel Sussman

Front Oncol· February 2023

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Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez

Mol Genet Genomic Med· April 2022

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Selective impact of CDK4/6 suppression on patient-derived models of pancreatic cancer.
Agnieszka K Witkiewicz, Nicholas A Borja, Jorge Franco, Jonathan R Brody, Charles J Yeo

Oncotarget· June 2015

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Impact of weight change during neoadjuvant chemotherapy on pathologic response in triple-negative breast cancer.
Jean Bao, Nicholas Borja, Madhu Rao, James Huth, A Marilyn Leitch

Cancer Med· April 2015

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