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Journal of Human Genetics|September 24, 2025
LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorderEmilie C Ung, Nicholas A BorjaGenetics in Medicine Open|December 13, 2024
Coffin-Siris syndrome and cancer susceptibilityNicholas A Borja, Samantha A Schrier Vergano, Mustafa TekinJournal of Human Genetics|December 18, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findingsKiana Magee, William McGonigle, Rena Pressman, et al.Cancer Prevention Research (Philadelphia, Pa.)|February 16, 2024
Triple Primary Cancers: An Analysis of Genetic and Environmental FactorsNicholas A Borja, Rachel Silva-Smith, Carmen Calfa, et al.Frontiers in Oncology|March 3, 2023
Atypical <i>ATMs</i>: Broadening the phenotypic spectrum of <i>ATM</i>-associated hereditary cancerNicholas A Borja, Rachel Silva-Smith, Marilyn Huang, et al.Journal of Medical Genetics|December 6, 2024
<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3Nicholas A Borja, Mohammad Faraz Zafeer, Stephanie Bivona, et al.Frontiers in Oncology|March 18, 2026
Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromesDaniel Schwartzbaum, Christine Dinh, Nicholas A Borja, et al.Journal of Medical Genetics|December 31, 2024
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndromeIsha Harshe, Talia Donenberg, Marie Jeanjean, et al.Oncotarget|July 10, 2015
Selective impact of CDK4/6 suppression on patient-derived models of pancreatic cancerAgnieszka K Witkiewicz, Nicholas A Borja, Jorge Franco, et al.American Journal of Medical Genetics. Part A|October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkNicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.Pageof 2