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Rory Olson

4PUBLICATIONS
38CO-AUTHORS
Forensic epidemiologyPacific Peoples diet and nutritionNeonatologyCell development, proliferation and death
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Journal

Publications (4)

Sort by Publication Date:
|Nov 12, 2025
Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System.

N Jewel Samadder, Mariah Schroeder, Molly M Voss

|Nov 27, 2024
The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis.

Juan M Farina, Rory J Olson, Radhika Dhamija

|Nov 19, 2021
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.

Stephanie L Safgren, Rory J Olson, Filippo Pinto E Vairo

|Aug 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Serena Galosi, Ban H Edani, Simone Martinelli

Pageof 1

Frequent Collaborators

2 joint publications

Eric W Klee

1 joint publications

Simone Martinelli

1 joint publications

Alfredo Brusco

1 joint publications

Felix Distelmaier

1 joint publications

Ziv Gan-Or

1 joint publications

Dirk J Lefeber

1 joint publications

Vincenzo Leuzzi

1 joint publications

Stephanie L Safgren

1 joint publications

Filippo Pinto E Vairo

1 joint publications

Erick D Bothun

Frequent Collaborators

2 joint publications

Eric W Klee

1 joint publications

Simone Martinelli

1 joint publications

Alfredo Brusco

1 joint publications

Felix Distelmaier

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