Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data

por Haricharan, Svasti, Bainbridge, Matthew N., Scheet, Paul, Brown, Powel H.
Publicado 2014

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

por Smith, Laurie D., Bainbridge, Matthew N., Parad, Richard B., Bhattacharjee, Arindam
Publicado 2020

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy

por Bainbridge, Matthew Neil, Li, Lili, Tan, Yanli, Cheong, Benjamin Y., Marian, Ali J.
Publicado 2017

FindPeaks 3.1: a tool for identifying areas of enrichment from massively parallel short-read sequencing technology

por Fejes, Anthony P., Robertson, Gordon, Bilenky, Mikhail, Varhol, Richard, Bainbridge, Matthew, Jones, Steven J. M.
Publicado 2008

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

por Ramchandar, Nanda, Ding, Yan, Farnaes, Lauge, Dimmock, David, Hobbs, Charlotte, Kingsmore, Stephen F., Bainbridge, Matthew
Publicado 2020

The DNA damage repair landscape in Black women with breast cancer

por Mazumder, Aloran, Jimenez, Athena, Ellsworth, Rachel E., Freedland, Stephen J., George, Sophia, Bainbridge, Matthew N., Haricharan, Svasti
Publicado 2022

The Genomic landscape of short tandem repeats across multiple ancestries

por Vijayaraghavan, Prashanth, Batalov, Sergey, Ding, Yan, Sanford, Erica, Kingsmore, Stephen F., Dimmock, David, Hobbs, Charlotte, Bainbridge, Matthew
Publicado 2023

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

por Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.
Publicado 2020

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

por Sanford, Erica, Farnaes, Lauge, Batalov, Serge, Bainbridge, Matthew, Laubach, Susan, Worthen, H. Michael, Tokita, Mari, Kingsmore, Stephen F., Bradley, John
Publicado 2018

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

por Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.
Publicado 2022

Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tags

por Shin, Heesun, Hirst, Martin, Bainbridge, Matthew N, Magrini, Vincent, Mardis, Elaine, Moerman, Donald G, Marra, Marco A, Baillie, David L, Jones, Steven JM
Publicado 2008

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

por Bainbridge, Matthew N, Wang, Min, Wu, Yuanqing, Newsham, Irene, Muzny, Donna M, Jefferies, John L, Albert, Thomas J, Burgess, Daniel L, Gibbs, Richard A
Publicado 2011

Atlas2 Cloud: a framework for personal genome analysis in the cloud

por Evani, Uday S, Challis, Danny, Yu, Jin, Jackson, Andrew R, Paithankar, Sameer, Bainbridge, Matthew N, Jakkamsetti, Adinarayana, Pham, Peter, Coarfa, Cristian, Milosavljevic, Aleksandar, Yu, Fuli
Publicado 2012

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

por Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.
Publicado 2017

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

por Sanford Kobayashi, Erica, Batalov, Serge, Wenger, Aaron M., Lambert, Christine, Dhillon, Harsharan, Hall, Richard J., Baybayan, Primo, Ding, Yan, Rego, Seema, Wigby, Kristen, Friedman, Jennifer, Hobbs, Charlotte, Bainbridge, Matthew N.
Publicado 2022

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

por James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Publicado 2016

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

por Peterson, Bennet, Hernandez, Edgar Javier, Hobbs, Charlotte, Malone Jenkins, Sabrina, Moore, Barry, Rosales, Edwin, Zoucha, Samuel, Sanford, Erica, Bainbridge, Matthew N., Frise, Erwin, Oriol, Albert, Brunelli, Luca, Kingsmore, Stephen F., Yandell, Mark
Publicado 2023

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

por Reid, Jeffrey G, Carroll, Andrew, Veeraraghavan, Narayanan, Dahdouli, Mahmoud, Sundquist, Andreas, English, Adam, Bainbridge, Matthew, White, Simon, Salerno, William, Buhay, Christian, Yu, Fuli, Muzny, Donna, Daly, Richard, Duyk, Geoff, Gibbs, Richard A, Boerwinkle, Eric
Publicado 2014

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

por Lupski, James R, Gonzaga-Jauregui, Claudia, Yang, Yaping, Bainbridge, Matthew N, Jhangiani, Shalini, Buhay, Christian J, Kovar, Christie L, Wang, Min, Hawes, Alicia C, Reid, Jeffrey G, Eng, Christine, Muzny, Donna M, Gibbs, Richard A
Publicado 2013

Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach

por Bainbridge, Matthew N, Warren, René L, Hirst, Martin, Romanuik, Tammy, Zeng, Thomas, Go, Anne, Delaney, Allen, Griffith, Malachi, Hickenbotham, Matthew, Magrini, Vincent, Mardis, Elaine R, Sadar, Marianne D, Siddiqui, Asim S, Marra, Marco A, Jones, Steven JM
Publicado 2006