Works by Bainbridge, Matthew N

Results: 32

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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