Elizabeth M J Lee
19PUBLICATIONS
32CO-AUTHORS
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Publications (19)
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|Dec 12, 2025
Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?Jade Hudson, Stephanie Hyunh, Bojana Rakic
|Dec 12, 2025
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein
|Jul 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi
|Jan 24, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.Duha Hejla, Stephanie Huynh, Simran Samra
|Jan 03, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.Adrienne Elbert, Katherine Dixon, Yaoqing Shen
|Sep 04, 2023
Are CUL3 variants an underreported cause of congenital heart disease?Daniela Di Francesco, Anne Swenerton, Wenhui Laura Li
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Frequent Collaborators
4 joint publications
Hui-Lin Chin
2 joint publications
Jan M Friedman
2 joint publications
William T Gibson
2 joint publications
Elise Valkanas
2 joint publications
Jessica Guzman
2 joint publications
Elise Valkanas
1 joint publications
Karen Xu
1 joint publications
Vahid Akbari
1 joint publications
Jianghong An
1 joint publications
Rosanna Weksberg
