Хайлтын үр дүнгүүд - Bainbridge, Matthew N

Determining the incidence of rare diseases -н Bainbridge, Matthew N.

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Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data -н Haricharan, Svasti, Bainbridge, Matthew N., Scheet, Paul, Brown, Powel H.

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Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges -н Smith, Laurie D., Bainbridge, Matthew N., Parad, Richard B., Bhattacharjee, Arindam

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Presence of Viral DNA in Whole-Genome Sequencing of Brain Tumor Tissues from The Cancer Genome Atlas -н Amirian, E. Susan, Bondy, Melissa L., Mo, Qianxing, Bainbridge, Matthew N., Scheurer, Michael E.

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The DNA damage repair landscape in Black women with breast cancer -н Mazumder, Aloran, Jimenez, Athena, Ellsworth, Rachel E., Freedland, Stephen J., George, Sophia, Bainbridge, Matthew N., Haricharan, Svasti

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Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis -н Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.

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Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tags -н Shin, Heesun, Hirst, Martin, Bainbridge, Matthew N, Magrini, Vincent, Mardis, Elaine, Moerman, Donald G, Marra, Marco A, Baillie, David L, Jones, Steven JM

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POT1 mutation spectrum in tumor types commonly diagnosed among POT1-associated hereditary cancer syndrome families -н Shen, Erica, Xiu, Joanne, López, Giselle Y., Bentley, Rex, Jalali, Ali, Heimberger, Amy B., Bainbridge, Matthew N., Bondy, Melissa L., Walsh, Kyle M.

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities -н Bainbridge, Matthew N, Wang, Min, Wu, Yuanqing, Newsham, Irene, Muzny, Donna M, Jefferies, John L, Albert, Thomas J, Burgess, Daniel L, Gibbs, Richard A

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

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

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Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria -н 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.

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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle -н Bainbridge, Matthew N, Cooney, Erin, Miller, Marcus, Kennedy, Adam, Wulff, Jacob, Donti, Taraka, Jhangiani, Shalini N, Gibbs, Richard A, Elsea, Sarah H., Porter, Brenda E., Graham, Brett H.

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Exome Sequencing: Applications From the Lab Bench to the Clinic -н Yang, Yaping, Reid, Jeffrey G., Bainbridge, Matthew N., Buhay, Christian J., Hawes, Alicia C., Wang, Min, Ding, Yan, Eng, Christine M., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna

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

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POT1 regulates proliferation and confers sexual dimorphism in glioma -н Jalali, Ali, Yu, Kwanha, Beechar, Vivek, Huerta, Navish Bosquez, Grichuk, Anthony, Mehra, Deepika, Lozzi, Brittney, Kong, Kathleen, Scott, Kenneth L, Rao, Ganesh, Bainbridge, Matthew N, Bondy, Melissa L, Deneen, Benjamin

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Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction -н Bainbridge, Matthew N., Davis, Erica E., Choi, Wen-Yee, Dickson, Amy, Martinez, Hugo R., Wang, Min, Dinh, Huyen, Muzny, Donna, Pignatelli, Ricardo, Katsanis, Nicholas, Boerwinkle, Eric, Gibbs, Richard, Jefferies, John L.

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Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series -н 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, Huse, Jason T, Bondy, Melissa L

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

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

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