Publications by authors named "Matthew Bainbridge"

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Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence.
Aloran Mazumder, Jerry Dewitt, Elena Oropeza, Nindo Punturi, Daniel Lozano, Matthew Bainbridge

Nat Commun· December 2025

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Long-Read Genome Sequencing in Clinical Psychiatry: Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation.
Milad Mortazavi, Sergey Batalov, Jerica Lenberg, Corrine Blucher, Aisha Omorodion, Matthew N Bainbridge

Am J Psychiatry· August 2025

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Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism.
Milad Mortazavi, James Guevara, Joshua Diaz, Stephen Tran, Helyaneh Ziaei Jam, Matthew Bainbridge

medRxiv· July 2025

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Long-term follow-up of children who received rapid genomic sequencing.
Erica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, Wendy Benson, Nicole G Coufal, Matthew Bainbridge

Genet Med· June 2025

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MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.
Bennet Peterson, Edwin F Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Matthew N Bainbridge

NPJ Genom Med· June 2025

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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz, Matthew N Bainbridge

Ann Clin Transl Neurol· March 2025

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A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.
Edwin F Juarez, Bennet Peterson, Erica Sanford Kobayashi, Sheldon Gilmer, Laura E Tobin, Matthew N Bainbridge

NPJ Digit Med· January 2025

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The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.
Kristen Barbour, Matthew N Bainbridge, Kristen Wigby, Aaron D Besterman, Nathaniel A Chuang

Pediatr Neurol· December 2024

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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, Yupu Liang, William R Mowrey, Matthew Bainbridge

Am J Hum Genet· December 2024

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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Erica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, Christine Makowski, Verena Kraus, Matthew Bainbridge

J Pediatr· November 2024

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A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.
Edwin F Juarez, Bennet Peterson, Erica Sanford Kobayashi, Sheldon Gilmer, Laura E Tobin, Matthew N Bainbridge

medRxiv· July 2024

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The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization.
Tanya L Brown, Matthew N Bainbridge, Grit Zahn, Kim L Nye, Brenda E Porter

Ther Adv Rare Dis· July 2024

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Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.
Christopher E Hopkins, Trisha Brock, Thomas R Caulfield, Matthew Bainbridge

Mol Aspects Med· June 2023

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Matthew Bainbridge

Brain· June 2023

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Clinical variants in expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Christopher E Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Matthew N Bainbridge

Genet Med Open· June 2023

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Response to Grosse et al.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov

Am J Hum Genet· June 2023

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Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness.
Elena Oropeza, Sinem Seker, Sabrina Carrel, Aloran Mazumder, Daniel Lozano, Matthew N Bainbridge

Sci Adv· June 2023

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The genomic landscape of familial glioma.
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Matthew N Bainbridge

Sci Adv· April 2023

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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Matthew N Bainbridge

Genome Med· March 2023

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Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
Mallory J Owen, Meredith S Wright, Sergey Batalov, Yonghyun Kwon, Yan Ding, Matthew Bainbridge

JAMA Netw Open· February 2023

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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Matthew Bainbridge

NPJ Genom Med· February 2023

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The Genomic landscape of short tandem repeats across multiple ancestries.
Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F Kingsmore, Matthew Bainbridge

PLoS One· January 2023

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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Caroline R Stanclift, Selina S Dwight, Kevin Lee, Quirine L Eijkenboom, Matt Wilsey, Matthew N Bainbridge

Orphanet J Rare Dis· December 2022

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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
Erica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, Christine Lambert, Harsharan Dhillon, Matthew N Bainbridge

Sci Rep· October 2022

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov

Am J Hum Genet· September 2022

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