Matthew N. Bainbridge - Rady Children's Institute for Genomic Medicine, Rady Children's Hospital

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论文共 133 篇作者统计合作学者相似作者

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P347: RareResolve: Gene-humanized animal models for resolving pathogenicity in variants of uncertain significance (VUS)

Christopher Hopkins,Trisha Brock,Kathryn McCormick,Ingo Helbig,Matthew Bainbridge

Genetics in Medicine Open (2024): 101241

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MPSE Provides Fast, Flexible, and Efficient Means to Identify Newborns Who Will Benefit from Whole Genome Sequencing Within the First 48 Hours of NICU Admission

Bennet Dell Peterson, Edwin F Juarez,Barry Moore,Edgar Javier Hernandez,Erwin Frise, Jianrong Li,Yves Lussier,Martin Tristani-Firouzi,Martin G Reese,Sabrina Malone Jenkins,Stephen F Kingsmore,Matthew N Bainbridge,Mark Yandell

medrxiv（2024）

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P347: RareResolve: Gene-humanized Animal Models for Resolving Pathogenicity in Variants of Uncertain Significance (VUS)

Christopher D. Hopkins,Trisha Brock,Kathryn McCormick,Ingo Helbig,Matthew N. Bainbridge

Genetics in medicine open (2024): 101241-101241

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EPID-24. OPTIMIZING PATIENT RECRUITMENT FOR BRAIN TUMOR STUDIES: LEVERAGING THE POWER OF GOOGLE ADS TO CONNECT WITH AFFECTED FAMILIES

Sofia Kakaizada,Matthew Bainbridge,Georgina Armstrong,Melissa Bondy

Neuro-Oncologyno. Supplement_8 (2024)

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Aberrant cytoplasmic localization of MLH1 characterizes a sub-clonal breast cancer cell population that seeds recurrence

A Mazumder, JT DeWitt,E Oropeza,N Punturi, D Lozano, M Raghunathan, JM Piscitelli,E Sajjadi,E Guerini-Rocco,K Venetis,M Ivanova, E Mane,N Fusco,MN Bainbridge, CM Manhart,S Haricharan

biorxiv（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,Nanda Ramchandar,Vardiella Meiner,Isabelle Thiffault,Emily Farrow,Julie Cakici,Stephen Kingsmore,Matias Wagner,Nikolaus Rieber,Matthew Bainbridge

JOURNAL OF PEDIATRICS (2024)

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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, Laura E. Tobin,Miguel Del Campo,Jerica Lenberg,Lynne M. Bird,Jennifer Friedman

Pediatric neurology（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, Brandan Schultz,Jerica Lenberg,Jeanne Carroll,Shiyu Bai-Tong,Nathaly M Sweeney, Curtis Beebe, Lawrence Stewart, Lauren Olsen, Julie Reinke, Elizabeth A Kiernan,Rebecca Reimers,Kristen Wigby, Chris Tackaberry,Mark Yandell,Charlotte Hobbs,Matthew N Bainbridge

medRxiv the preprint server for health sciences (2024)

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P156: Genomic Disease Contribution for Unknown Causes of Infant Mortality Via Genome Sequencing of Newborn Dried Blood Spots and Semiautomated Interpretation*

Eric Ontiveros, Liana Protopsaltis,Rebecca Baer,Matthew Bainbridge, Bryant Cao,Yan Ding,Katarzyna (Kasia) Ellsworth, Laura Forero,Erwin Frise,Lucia Guidugli,YongHyun Kwon,Jennie Le,Scott Oltman,Mallory Owen,Erica Sanford Kobayashi, Lucita Van Der Kraan,Meredith Wright, Mark Yandell,Laura Jelliffe-Pawlowski,Gretchen Bandoli

Genetics in Medicine Open (2024): 101053

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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

Therapeutic advances in rare disease (2024): 26330040241263972-26330040241263972

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