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Protocol to analyze deep-learning-predicted functional scores for noncoding de novo variants and their correlation with complex brain traits.

Publication: Journal Article

Mondragon-Estrada, Enrique, and Sarah U Morton. 2025. “Protocol to Analyze Deep-Learning-Predicted Functional Scores for Noncoding de Novo Variants and Their Correlation With Complex Brain Traits.”. STAR Protocols 6 (2): 103738.

Impact of congenital heart disease and prematurity on brain injury from a national registry.

Publication: Journal Article

Lima, Giulia P, Sarah U Morton, Isabella Zaniletti, Philip Levy, Nathaly Sweeney, Leeann Pavlek, Shannon E G Hamrick, et al. 2025. “Impact of Congenital Heart Disease and Prematurity on Brain Injury from a National Registry.”. Journal of Perinatology : Official Journal of the California Perinatal Association.

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Publication: Journal Article

Sierant, Michael C, Sheng Chih Jin, Kaya Bilguvar, Sarah U Morton, Weilai Dong, Wei Jiang, Ziyu Lu, et al. 2025. “Genomic Analysis of 11,555 Probands Identifies 60 Dominant Congenital Heart Disease Genes.”. Proceedings of the National Academy of Sciences of the United States of America 122 (13): e2420343122.

Stefanie Perrier, PhD

Person:

Stefanie Perrier is a Research Fellow at the Boston Children’s Hospital and Harvard Medical School in the Fetal-Neonatal Neuroimaging Developmental Science Centre. She received her PhD in Neuroscience from McGill University where she studied the pathophysiology of neurogenetic diseases, with a focus...

CLIF-Net: Intersection-guided Cross-view Fusion Network for Infection Detection from Cranial Ultrasound.

Publication: Journal Article

Yu, Mingzhao, Mallory R Peterson, Kathy Burgoine, Thaddeus Harbaugh, Peter Olupot-Olupot, Melissa Gladstone, Cornelia Hagmann, et al. 2025. “CLIF-Net: Intersection-Guided Cross-View Fusion Network for Infection Detection from Cranial Ultrasound.”. IEEE Transactions on Medical Imaging PP.

Poor Surgical Outcomes Following Paenibacillus Infant Infectious Hydrocephalus.

Publication: Journal Article

Ericson, Jessica E, Davis Natukwatsa, Peter Ssenyonga, Justin Onen, John Mugamba, Ronald Mulondo, Sarah U Morton, et al. 2025. “Poor Surgical Outcomes Following Paenibacillus Infant Infectious Hydrocephalus.”. MedRxiv : The Preprint Server for Health Sciences.

Alumni

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Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.

Publication: Journal Article

Watkins, Scott, Edgar J Hernandez, Thomas A Miller, Nathan R Blue, Raquel Mae Zimmerman, Eric R Griffiths, Erwin Frise, et al. 2025. “Genome Sequencing Is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery.”. Nature Communications 16 (1): 6365.

Dosage-sensitive RBFOX2 autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome.

Publication: Journal Article

Huang, Mengmeng, Feria A Ladha, Yunxia Wang, Michael A Trembley, Hui-Min Yin, Rongbin Zheng, Maksymilian Prondzynski, et al. 2025. “Dosage-Sensitive RBFOX2 Autoregulation Promotes Cardiomyocyte Differentiation by Maturing the Transcriptome.”. BioRxiv : The Preprint Server for Biology.

NICU Biobank

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The NICU Biobank is one of 57 studies supported by the Boston Children's Rare Disease Collaborative (CRDC). Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and...