Search Results - "Reese, G"

The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool by Flygare, Steven, Hernandez, Edgar Javier, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, G Reese, Martin, Yandell, Mark

“…Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole genome sequences…”
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3D Echo Planar Time-resolved Imaging (3D-EPTI) for ultrafast multi-parametric quantitative MRI by Wang, Fuyixue, Dong, Zijing, Reese, Timothy G., Rosen, Bruce, Wald, Lawrence L., Setsompop, Kawin

“…•Ultra-fast acquisition for 3D multi-parametric quantitative MRI.•Simultaneous T1 T2 T2* PD and B1+ mapping.•3-minute scan at 1-mm isotropic resolution with…”
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Diffusion MRI of Complex Neural Architecture by Tuch, David S., Reese, Timothy G., Wiegell, Mette R., Van J. Wedeen

“…While functional brain imaging methods can locate the cortical regions subserving particular cognitive functions, the connectivity between the functional areas…”
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A probabilistic disease-gene finder for personal genomes by Yandell, Mark, Huff, Chad, Hu, Hao, Singleton, Marc, Moore, Barry, Xing, Jinchuan, Jorde, Lynn B, Reese, Martin G

“…VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in…”
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Variable flip angle echo planar time-resolved imaging (vFA-EPTI) for fast high-resolution gradient echo myelin water imaging by Dong, Zijing, Wang, Fuyixue, Chan, Kwok-Shing, Reese, Timothy G., Bilgic, Berkin, Marques, José P., Setsompop, Kawin

“…•Novel fast acquisition technique for multi-echo multi-flip-angle imaging.•26 × acceleration for gradient-echo myelin water imaging with T1 correction.•5 min…”
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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix by Hu, Hao, Huff, Chad D., Moore, Barry, Flygare, Steven, Reese, Martin G., Yandell, Mark

“…ABSTRACT The need for improved algorithmic support for variant prioritization and disease‐gene identification in personal genomes data is widely acknowledged…”
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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families by Singleton, Marc V., Guthery, Stephen L., Voelkerding, Karl V., Chen, Karin, Kennedy, Brett, Margraf, Rebecca L., Durtschi, Jacob, Eilbeck, Karen, Reese, Martin G., Jorde, Lynn B., Huff, Chad D., Yandell, Mark

“…Phevor integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor…”
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases by Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.

“…While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not…”
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High angular resolution diffusion imaging reveals intravoxel white matter fiber heterogeneity by Tuch, David S., Reese, Timothy G., Wiegell, Mette R., Makris, Nikos, Belliveau, John W., Wedeen, Van J.

“…Magnetic resonance (MR) diffusion tensor imaging (DTI) can resolve the white matter fiber orientation within a voxel provided that the fibers are strongly…”
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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding by McKernan, Kevin Judd, Peckham, Heather E, Costa, Gina L, McLaughlin, Stephen F, Fu, Yutao, Tsung, Eric F, Clouser, Christopher R, Duncan, Cisyla, Ichikawa, Jeffrey K, Lee, Clarence C, Zhang, Zheng, Ranade, Swati S, Dimalanta, Eileen T, Hyland, Fiona C, Sokolsky, Tanya D, Zhang, Lei, Sheridan, Andrew, Fu, Haoning, Hendrickson, Cynthia L, Li, Bin, Kotler, Lev, Stuart, Jeremy R, Malek, Joel A, Manning, Jonathan M, Antipova, Alena A, Perez, Damon S, Moore, Michael P, Hayashibara, Kathleen C, Lyons, Michael R, Beaudoin, Robert E, Coleman, Brittany E, Laptewicz, Michael W, Sannicandro, Adam E, Rhodes, Michael D, Gottimukkala, Rajesh K, Yang, Shan, Bafna, Vineet, Bashir, Ali, MacBride, Andrew, Alkan, Can, Kidd, Jeffrey M, Eichler, Evan E, Reese, Martin G, De La Vega, Francisco M, Blanchard, Alan P

“…We describe the genome sequencing of an anonymous individual of African origin using a novel ligation-based sequencing assay that enables a unique form of…”
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Reduction of eddy-current-induced distortion in diffusion MRI using a twice-refocused spin echo by Reese, T.G., Heid, O., Weisskoff, R.M., Wedeen, V.J.

“…Image distortion due to field gradient eddy currents can create image artifacts in diffusion‐weighted MR images. These images, acquired by measuring the…”
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Impact of motion and partial volume effects correction on PET myocardial perfusion imaging using simultaneous PET-MR by Petibon, Yoann, Guehl, Nicolas J, Reese, Timothy G, Ebrahimi, Behzad, Normandin, Marc D, Shoup, Timothy M, Alpert, Nathaniel M, El Fakhri, Georges, Ouyang, Jinsong

“…PET is an established modality for myocardial perfusion imaging (MPI) which enables quantification of absolute myocardial blood flow (MBF) using dynamic…”
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data by Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D

“…A new algorithm for analyzing genome sequences of family members helps identify genes associated with disease. High-throughput sequencing of related…”
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Magnetic resonance imaging based anatomical assessment of tongue impairment due to amyotrophic lateral sclerosis: A preliminary study by Lee, Euna, Xing, Fangxu, Ahn, Sung, Reese, Timothy G., Wang, Ruopeng, Green, Jordan R., Atassi, Nazem, Wedeen, Van J., El Fakhri, Georges, Woo, Jonghye

“…Amyotrophic Lateral Sclerosis (ALS) is a neurological disorder, which impairs tongue function for speech and swallowing. A widely used Diffusion Tensor Imaging…”
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Transanal evisceration of small bowel in two patients with chronic rectal prolapse: case presentation and literature review by Hajiev, S, Ezzat, A, Sivarajah, V, Reese, G, El-Masry, N

“…There are fewer than 100 documented cases of transanal small bowel evisceration in the literature. We report two cases of this rare surgical emergency in an…”
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The non-specific lipid transfer protein, Ara h 9, is an important allergen in peanut by Lauer, I., Dueringer, N., Pokoj, S., Rehm, S., Zoccatelli, G., Reese, G., Miguel-Moncin, M. S., Cistero-Bahima, A., Enrique, E., Lidholm, J., Vieths, S., Scheurer, S.

“…Summary Background Plant food allergy in the Mediterranean area is mainly caused by non‐specific lipid transfer proteins (nsLTP). The aim of this study was to…”
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Myocardial Scar Delineation Using Diffusion Tensor Magnetic Resonance Tractography by Mekkaoui, Choukri, Jackowski, Marcel P., Kostis, William J., Stoeck, Christian T., Thiagalingam, Aravinda, Reese, Timothy G., Reddy, Vivek Y., Ruskin, Jeremy N., Kozerke, Sebastian, Sosnovik, David E.

“…Background Late gadolinium enhancement (LGE) is the current standard for myocardial scar delineation. In this study, we introduce the tractographic propagation…”
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Mapping complex tissue architecture with diffusion spectrum magnetic resonance imaging by Wedeen, Van J., Hagmann, Patric, Tseng, Wen-Yih Isaac, Reese, Timothy G., Weisskoff, Robert M.

“…Methods are presented to map complex fiber architectures in tissues by imaging the 3D spectra of tissue water diffusion with MR. First, theoretical…”
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Diffusion MR tractography of the heart by Sosnovik, David E, Wang, Ruopeng, Dai, Guangping, Reese, Timothy G, Wedeen, Van J

“…Histological studies have shown that the myocardium consists of an array of crossing helical fiber tracts. Changes in myocardial fiber architecture occur in…”
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Airborne olive pollen counts are not representative of exposure to the major olive allergen Ole e 1 by Galan, C., Antunes, C., Brandao, R., Torres, C., Garcia‐Mozo, H., Caeiro, E., Ferro, R., Prank, M., Sofiev, M., Albertini, R., Berger, U., Cecchi, L., Celenk, S., Grewling, Ł., Jackowiak, B., Jäger, S., Kennedy, R., Rantio‐Lehtimäki, A., Reese, G., Sauliene, I., Smith, M., Thibaudon, M., Weber, B., Weichenmeier, I., Pusch, G., Buters, J. T. M.

“…Pollen is routinely monitored, but it is unknown whether pollen counts represent allergen exposure. We therefore simultaneously determined olive pollen and Ole…”
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