Comprehensive Profiling of DNA Repair Defects in Breast Cancer Identifies a Novel Class of Endocrine Therapy Resistance Drivers
Anurag, Meenakshi, Punturi, Nindo, Hoog, Jeremy, Bainbridge, Matthew N, Ellis, Matthew J, Haricharan, Svasti
Published in Clinical cancer research (01.10.2018)
Published in Clinical cancer research (01.10.2018)
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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, Lauge, Hildreth, Amber, Sweeney, Nathaly M., Clark, Michelle M., Chowdhury, Shimul, Nahas, Shareef, Cakici, Julie A., Benson, Wendy, Kaplan, Robert H., Kronick, Richard, Bainbridge, Matthew N., Friedman, Jennifer, Gold, Jeffrey J., Ding, Yan, Veeraraghavan, Narayanan, Dimmock, David, Kingsmore, Stephen F.
Published in Npj genomic medicine (04.04.2018)
Published in Npj genomic medicine (04.04.2018)
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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
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.
Published in Scientific reports (09.10.2022)
Published in Scientific reports (09.10.2022)
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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Stanclift, Caroline R, Dwight, Selina S, Lee, Kevin, Eijkenboom, Quirine L, Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N
Published in Orphanet journal of rare diseases (17.12.2022)
Published in Orphanet journal of rare diseases (17.12.2022)
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Whole-genome sequencing for optimized patient management
Bainbridge, Matthew N, Wiszniewski, Wojciech, Murdock, David R, Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G, Fink, John K, Morgan, Margaret B, Gingras, Marie-Claude, Muzny, Donna M, Hoang, Linh D, Yousaf, Shahed, Lupski, James R, Gibbs, Richard A
Published in Science translational medicine (15.06.2011)
Published in Science translational medicine (15.06.2011)
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Journal Article
Loss of MutL Disrupts CHK2-Dependent Cell-Cycle Control through CDK4/6 to Promote Intrinsic Endocrine Therapy Resistance in Primary Breast Cancer
Haricharan, Svasti, Punturi, Nindo, Singh, Purba, Holloway, Kimberly R, Anurag, Meenakshi, Schmelz, Jacob, Schmidt, Cheryl, Lei, Jonathan T, Suman, Vera, Hunt, Kelly, Olson, Jr, John A, Hoog, Jeremy, Li, Shunqiang, Huang, Shixia, Edwards, Dean P, Kavuri, Shyam M, Bainbridge, Matthew N, Ma, Cynthia X, Ellis, Matthew J
Published in Cancer discovery (01.10.2017)
Published in Cancer discovery (01.10.2017)
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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
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
Published in Genome medicine (16.03.2023)
Published in Genome medicine (16.03.2023)
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Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng‐Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Published in Journal of bone and mineral research (01.07.2013)
Published in Journal of bone and mineral research (01.07.2013)
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv
Published in The New England journal of medicine (17.10.2013)
Published in The New England journal of medicine (17.10.2013)
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Journal Article
The DNA damage repair landscape in Black women with breast cancer
Mazumder, Aloran, Jimenez, Athena, Ellsworth, Rachel E., Freedland, Stephen J., George, Sophia, Bainbridge, Matthew N., Haricharan, Svasti
Published in Therapeutic advances in medical oncology (01.02.2022)
Published in Therapeutic advances in medical oncology (01.02.2022)
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The effect of pH in modulating skin cell behaviour
Sharpe, J.R., Harris, K.L., Jubin, K., Bainbridge, N.J., Jordan, N.R.
Published in British journal of dermatology (1951) (01.09.2009)
Published in British journal of dermatology (1951) (01.09.2009)
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Journal Article
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Secondary findings and carrier test frequencies in a large multiethnic sample
Gambin, Tomasz, Jhangiani, Shalini N, Below, Jennifer E, Campbell, Ian M, Wiszniewski, Wojciech, Muzny, Donna M, Staples, Jeffrey, Morrison, Alanna C, Bainbridge, Matthew N, Penney, Samantha, McGuire, Amy L, Gibbs, Richard A, Lupski, James R, Boerwinkle, Eric
Published in Genome medicine (13.06.2015)
Published in Genome medicine (13.06.2015)
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Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance
Hopkins, Christopher E., McCormick, Kathryn, Brock, Trisha, Wood, Matthew, Ruggiero, Sarah, Mcbride, Kolt, Kim, Christine, Lawson, Jennifer A., Helbig, Ingo, Bainbridge, Matthew N.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
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
Published in Genome medicine (02.02.2016)
Published in Genome medicine (02.02.2016)
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Journal Article
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini N., Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J., Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Published in Cell reports (Cambridge) (18.08.2015)
Published in Cell reports (Cambridge) (18.08.2015)
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Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Karaca, Ender, Weitzer, Stefan, Pehlivan, Davut, Shiraishi, Hiroshi, Gogakos, Tasos, Hanada, Toshikatsu, Jhangiani, Shalini N., Wiszniewski, Wojciech, Withers, Marjorie, Campbell, Ian M., Erdin, Serkan, Isikay, Sedat, Franco, Luis M., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Gelowani, Violet, Hunter, Jill V., Yesil, Gozde, Koparir, Erkan, Yilmaz, Sarenur, Brown, Miguel, Briskin, Daniel, Hafner, Markus, Morozov, Pavel, Farazi, Thalia A., Bernreuther, Christian, Glatzel, Markus, Trattnig, Siegfried, Friske, Joachim, Kronnerwetter, Claudia, Bainbridge, Matthew N., Gezdirici, Alper, Seven, Mehmet, Muzny, Donna M., Boerwinkle, Eric, Ozen, Mustafa, Clausen, Tim, Tuschl, Thomas, Yuksel, Adnan, Hess, Andreas, Gibbs, Richard A., Martinez, Javier, Penninger, Josef M., Lupski, James R.
Published in Cell (24.04.2014)
Published in Cell (24.04.2014)
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