Works by Bainbridge, Matthew N

Results: 33

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

Published in:

Genome Biology, 2011, v. 12, n. 7, p. 1, doi. 10.1186/gb-2011-12-7-r68

By:

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

Publication type:

Article

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

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005611

By:

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

Publication type:

Article

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

Published in:

BMC Genomics, 2012, v. 13, n. Suppl 6, p. 1, doi. 10.1186/1471-2164-13-S6-S19

By:

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

Publication type:

Article

Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tags.

Published in:

BMC Biology, 2008, v. 6, p. 1, doi. 10.1186/1741-7007-6-30

By:

Heesun Shin;
Hirst, Martin;
Bainbridge, Matthew N.;
Magrini, Vincent;
Mardis, Elaine;
Moerman, Donald G;
Marra, Marco A.;
Baillie, David L.;
Jones, Steven J. M.

Publication type:

Article

Comprehensive molecular characterization of human colon and rectal cancer.

Published in:

Nature, 2012, v. 487, n. 7407, p. 330, doi. 10.1038/nature11252

By:

Muzny, Donna M.;
Bainbridge, Matthew N.;
Chang, Kyle;
Dinh, Huyen H.;
Drummond, Jennifer A.;
Fowler, Gerald;
Kovar, Christie L.;
Lewis, Lora R.;
Morgan, Margaret B.;
Newsham, Irene F.;
Reid, Jeffrey G.;
Santibanez, Jireh;
Shinbrot, Eve;
Trevino, Lisa R.;
Wu, Yuan-Qing;
Wang, Min;
Gunaratne, Preethi;
Donehower, Lawrence A.;
Creighton, Chad J.;
Wheeler, David A.

Publication type:

Article

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 459, doi. 10.1093/hmg/ddz305

By:

Chen, Chun-An;
Pal, Rituraj;
Yin, Jiani;
Tao, Huifang;
Amawi, Abdallah;
Sabo, Aniko;
Bainbridge, Matthew N;
Gibbs, Richard A;
Zoghbi, Huda Y;
Schaaf, Christian P

Publication type:

Article

Whole-Genome Sequencing for Optimized Patient Management.

Published in:

Science Translational Medicine, 2011, v. 3, n. 87, p. 1, doi. 10.1126/scitranslmed.3002243

By:

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.

Publication type:

Article

The DNA damage repair landscape in Black women with breast cancer.

Published in:

Therapeutic Advances in Medical Oncology, 2022, p. 1, doi. 10.1177/17588359221075458

By:

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

Publication type:

Article

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.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241263972

By:

Brown, Tanya L.;
Bainbridge, Matthew N.;
Zahn, Grit;
Nye, Kim L.;
Porter, Brenda E.

Publication type:

Article

Determining the incidence of rare diseases.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 569, doi. 10.1007/s00439-020-02135-5

By:

Bainbridge, Matthew N.

Publication type:

Article

Germline mutations in shelterin complex genes are associated with familial glioma.

Published in:

2015

By:

Bainbridge, Matthew N;
Armstrong, Georgina N;
Gramatges, M Monica;
Bertuch, Alison A;
Jhangiani, Shalini N;
Doddapaneni, Harsha;
Lewis, Lora;
Tombrello, Joseph;
Tsavachidis, Spyros;
Liu, Yanhong;
Jalali, Ali;
Plon, Sharon E;
Lau, Ching C;
Parsons, Donald W;
Claus, Elizabeth B;
Barnholtz-Sloan, Jill;
Il'yasova, Dora;
Schildkraut, Joellen;
Ali-Osman, Francis;
Sadetzki, Siegal

Publication type:

journal article

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma.

Published in:

JNCI: Journal of the National Cancer Institute, 2014, v. 107, n. 1, p. 1, doi. 10.1093/jnci/dju384

By:

Bainbridge, Matthew N.;
Armstrong, Georgina N.;
Gramatges, M. Monica;
Bertuch, Alison A.;
Jhangiani, Shalini N.;
Doddapaneni, Harsha;
Lewis, Lora;
Tombrello, Joseph;
Tsavachidis, Spyros;
Liu, Yanhong;
Jalali, Ali;
Plon, Sharon E.;
Lau, Ching C.;
Parsons, Donald W.;
Claus, Elizabeth B.;
Barnholtz-Sloan, Jill;
Il’yasova, Dora;
Schildkraut, Joellen;
Ali-Osman, Francis;
Sadetzki, Siegal

Publication type:

Article

Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium.

Published in:

Scientific Reports, 2015, p. 8278, doi. 10.1038/srep08278

By:

Jalali, Ali;
Amirian, E. Susan;
Bainbridge, Matthew N.;
Armstrong, Georgina N.;
Liu, Yanhong;
Tsavachidis, Spyros;
Jhangiani, Shalini N.;
Plon, Sharon E.;
Lau, Ching C.;
Claus, Elizabeth B.;
Barnholtz-Sloan, Jill S.;
Il'yasova, Dora;
Schildkraut, Joellen;
Ali-Osman, Francis;
Sadetzki, Siegal;
Johansen, Christoffer;
Houlston, Richard S.;
Jenkins, Robert B.;
Lachance, Daniel;
Olson, Sara H.

Publication type:

Article

Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.

Published in:

Neuro-Oncology, 2018, v. 20, n. 12, p. 1625, doi. 10.1093/neuonc/noy119

By:

Jacobs, Daniel I;
Fukumura, Kazutaka;
Bainbridge, Matthew N;
Armstrong, Georgina N;
Tsavachidis, Spiridon;
Gu, Xiangjun;
Doddapaneni, Harsha V;
Hu, Jianhong;
Jayaseelan, Joy C;
Muzny, Donna M

Publication type:

Article

Molecular subtyping of tumors from patients with familial glioma.

Published in:

Neuro-Oncology, 2018, v. 20, n. 6, p. 810, doi. 10.1093/neuonc/nox192

By:

Ruiz, Vanessa Y.;
Praska, Corinne E.;
Armstrong, Georgina;
Kollmeyer, Thomas M.;
Yamada, Seiji;
Decker, Paul A.;
Kosel, Matthew L.;
Eckel-Passow, Jeanette E.;
Lachance, Daniel H.;
Bainbridge, Matthew N.;
Melin, Beatrice S.;
Bondy, Melissa L.;
Jenkins, Robert B.

Publication type:

Article

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

Published in:

Neuro-Oncology, 2014, v. 16, n. 10, p. 1333

By:

Andersson, Ulrika;
Wibom, Carl;
Cederquist, Kristina;
Aradottir, Steina;
Borg, Åke;
Armstrong, Georgina N.;
Shete, Sanjay;
Lau, Ching C.;
Bainbridge, Matthew N.;
Claus, Elizabeth B.;
Barnholtz-Sloan, Jill;
Lai, Rose;
Il'yasova, Dora;
Houlston, Richard S.;
Schildkraut, Joellen;
Bernstein, Jonine L.;
Olson, Sara H.;
Jenkins, Robert B.;
Lachance, Daniel H.;
Wrensch, Margaret

Publication type:

Article

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Published in:

Science Translational Medicine, 2019, v. 11, n. 489, p. N.PAG, doi. 10.1126/scitranslmed.aat6177

By:

Clark, Michelle M.;
Hildreth, Amber;
Batalov, Sergey;
Ding, Yan;
Chowdhury, Shimul;
Watkins, Kelly;
Ellsworth, Katarzyna;
Camp, Brandon;
Kint, Cyrielle I.;
Yacoubian, Calum;
Farnaes, Lauge;
Bainbridge, Matthew N.;
Beebe, Curtis;
Braun, Joshua J. A.;
Bray, Margaret;
Carroll, Jeanne;
Cakici, Julie A.;
Caylor, Sara A.;
Clarke, Christina;
Creed, Mitchell P.

Publication type:

Article

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

Published in:

Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0261-8

By:

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

Publication type:

Article

THOR: targeted high-throughput ortholog reconstructor.

Published in:

Bioinformatics, 2007, v. 23, n. 19, p. 2622

By:

Matthew N. Bainbridge;
René L. Warren;
An He;
Mikhail Bilenky;
A. Gordon Robertson;
Steven J.M. Jones

Publication type:

Article

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 3, p. 602, doi. 10.1002/acn3.52225

By:

McCarty, Riley M.;
Saade, Dimah;
Munot, Pinki;
Laverty, Chamindra G.;
Pinz, Hailey;
Zou, Yaqun;
McAnally, Meghan;
Yun, Pomi;
Tian, Cuixia;
Hu, Ying;
Feng, Lucy;
Phadke, Rahul;
Ceulemans, Sophia;
Magoulas, Pilar;
Skalsky, Andrew J.;
Friedman, Jennifer R.;
Braddock, Stephen R.;
Neuhaus, Sarah B.;
Malicki, Denise M.;
Bainbridge, Matthew N.

Publication type:

Article

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Published in:

Source Code for Biology & Medicine, 2016, v. 11, p. 1, doi. 10.1186/s13029-016-0051-0

By:

Davis, Caleb F.;
Ritter, Deborah I.;
Wheeler, David A.;
Hongmei Wang;
Yan Ding;
Dugan, Shannon P.;
Bainbridge, Matthew N.;
Muzny, Donna M.;
Rao, Pulivarthi H.;
Tsz-Kwong Man;
Plon, Sharon E.;
Gibbs, Richard A.;
Lau, Ching C.

Publication type:

Article

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation.

Published in:

Journal of Bone & Mineral Research, 2013, v. 28, n. 7, p. 1523, doi. 10.1002/jbmr.1891

By:

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

Publication type:

Article

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282

By:

Caramins, Melody;
Colebatch, James G.;
Bainbridge, Matthew N.;
Scherer, Steven S.;
Abrams, Charles K.;
Hackett, Emma L.;
Freidin, Mona M.;
Jhangiani, Shalini N.;
Wang, Min;
Wu, Yuanqing;
Muzny, Donna M.;
Lindeman, Robert;
Gibbs, Richard A.

Publication type:

Article

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

Published in:

Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01166-7

By:

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

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02592-3

By:

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

Publication type:

Article

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4

By:

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.

Publication type:

Article

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

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-20113-x

By:

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.

Publication type:

Article

Secondary findings and carrier test frequencies in a large multiethnic sample.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0171-1

By:

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

Publication type:

Article

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

Published in:

Genome Medicine, 2013, v. 5, n. 6, p. 1, doi. 10.1186/gm461

By:

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

Publication type:

Article

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Published in:

Genome Medicine, 2013, v. 5, n. 2, p. 1, doi. 10.1186/gm415

By:

Bainbridge, Matthew N.;
Hao Hu;
Muzny, Donna M.;
Musante, Luciana;
Lupski, James R.;
Graham, Brett H.;
Wei Chen;
Gripp, Karen W.;
Jenny, Kim;
Wienker, Thomas F.;
Yaping Yang;
Reid Sutton, V.;
Gibbs, Richard A.;
Hilger Ropers, H.

Publication type:

Article

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2071, doi. 10.1002/ajmg.a.34165

By:

Murdock, David R.;
Clark, Gary D.;
Bainbridge, Matthew N.;
Newsham, Irene;
Wu, Yuan-Qing;
Muzny, Donna M.;
Cheung, Sau Wai;
Gibbs, Richard A.;
Ramocki, Melissa B.

Publication type:

Article

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Published in:

2022

By:

Bainbridge, Matthew N;
Mazumder, Aloran;
Ogasawara, Daisuke;
Jamra, Rami Abou;
Bernard, Geneviève;
Bertini, Enrico;
Burglen, Lydie;
Cope, Heidi;
Crawford, Ali;
Derksen, Alexa;
Dure, Leon;
Gantz, Emily;
Koch-Hogrebe, Margarete;
Hurst, Anna C E;
Mahida, Sonal;
Marshall, Paige;
Micalizzi, Alessia;
Novelli, Antonio;
Peng, Hongfan;
Medicine, Rady Children's Institute for Genomic

Publication type:

journal article

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

Published in:

BMC Genomics, 2006, v. 7, p. 246, doi. 10.1186/1471-2164-7-246

By:

Bainbridge, Matthew N;
Warren, Rene 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

Publication type:

Article