Catherine Gooch
5PUBLICATIONS
24CO-AUTHORS
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Publications (5)
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|Jun 24, 2025
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.E Woods, N Holmes, A S Denommé-Pichon
|Feb 08, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Alanna Strong, Soumya Rao, Sandra von Hardenberg
|Jan 18, 2022
Near complete deletion of KMT2D in a college student.Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder
|Sep 14, 2021
Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis.Angela Lee, Samuel Cortez, Peter Yang
|Mar 27, 2020
Inherited cause of in utero digital malformations.Catherine Gooch, Caitlin Wright, Katherine Nelson
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Frequent Collaborators
1 joint publications
E Woods
1 joint publications
A S Denommé-Pichon
1 joint publications
C W Ockeloen
1 joint publications
A Ververi
1 joint publications
R Legg
1 joint publications
M Balasubramanian
1 joint publications
Angela Lee
1 joint publications
Samuel Cortez
1 joint publications
Peter Yang
1 joint publications
Diane Aum
