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Matthew N Bainbridge

Showing results (21-30 of 67) with videos related to

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Scientific Reports|October 9, 2022
Approaches to long-read sequencing in a clinical setting to improve diagnostic rateErica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, et al.
Molecular Genetics and Metabolism|July 5, 2017
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycleMatthew N Bainbridge, Erin Cooney, Marcus Miller, et al.
Cancer Research|March 30, 2021
POT1 Regulates Proliferation and Confers Sexual Dimorphism in GliomaAli Jalali, Kwanha Yu, Vivek Beechar, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
Genome Medicine|March 17, 2023
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learningBennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, et al.
Neuro-Oncology|August 31, 2018
Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case seriesDaniel I Jacobs, Kazutaka Fukumura, Matthew N Bainbridge, et al.
Circulation. Cardiovascular Genetics|May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionMatthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
Human Molecular Genetics|June 19, 2013
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)Melody Caramins, James G Colebatch, Matthew N Bainbridge, et al.
Genome Medicine|June 29, 2013
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathyJames R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, et al.
Pageof 7

Showing results (21-30 of 67) with videos related to

Sort By:
Pageof 7
Scientific Reports|October 9, 2022
Approaches to long-read sequencing in a clinical setting to improve diagnostic rateErica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, et al.
Molecular Genetics and Metabolism|July 5, 2017
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycleMatthew N Bainbridge, Erin Cooney, Marcus Miller, et al.
Cancer Research|March 30, 2021
POT1 Regulates Proliferation and Confers Sexual Dimorphism in GliomaAli Jalali, Kwanha Yu, Vivek Beechar, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
Genome Medicine|March 17, 2023
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learningBennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, et al.
Neuro-Oncology|August 31, 2018
Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case seriesDaniel I Jacobs, Kazutaka Fukumura, Matthew N Bainbridge, et al.
Circulation. Cardiovascular Genetics|May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionMatthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
Human Molecular Genetics|June 19, 2013
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)Melody Caramins, James G Colebatch, Matthew N Bainbridge, et al.
Genome Medicine|June 29, 2013
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathyJames R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, et al.
Pageof 7