Nicole M Engelhardt

5PUBLICATIONS
47CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthRespiratory diseasesMolecular targets
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Publications (5)

|Apr 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Mar 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.

Hayley A Ron, Owen Kane, Rose Guo

|Jul 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development.

Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart

|Nov 09, 2022
Further Evidence That <i>ARIH1</i> Rare Variants Predispose to Thoracic Aortic Disease.

Maura L Boerio, Nicole M Engelhardt, Sanmati Cuddapah

|Feb 18, 2021
Repression of Wnt/β-catenin signaling by SOX9 and Mastermind-like transcriptional coactivator 2.

Abhishek Sinha, Vinson B Fan, Aravinda-Bharathi Ramakrishnan

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Frequent Collaborators

1 joint publications

Abhishek Sinha

1 joint publications

Vinson B Fan

1 joint publications

Aravinda-Bharathi Ramakrishnan

1 joint publications

Jennifer Kennell