Search Results - "NEU, Matthew B"

Fascin Plays a Role in Stress Fiber Organization and Focal Adhesion Disassembly by Elkhatib, Nadia, Neu, Matthew B., Zensen, Carla, Schmoller, Kurt M., Louvard, Daniel, Bausch, Andreas R., Betz, Timo, Vignjevic, Danijela Matic

“…Migrating cells nucleate focal adhesions (FAs) at the cell front and disassemble them at the rear to allow cell translocation. FAs are made of a multiprotein…”
Get full text

Per2 Mutation Recapitulates the Vascular Phenotype of Diabetes in the Retina and Bone Marrow by BHATWADEKAR, Ashay D, YUANQING YAN, BOULTON, Michael E, GRANT, Maria B, XIAOPING QI, THINSCHMIDT, Jeffrey S, NEU, Matthew B, LI CALZI, Sergio, SHAW, Lynn C, DOMINIGUEZ, James M, BUSIK, Julia V, LEE, Choogon

“…In this study, we assessed whether Per2 clock gene-mutant mice exhibit a vascular phenotype similar to diabetes. Per2 (B6.129-Per2(tm1Drw)/J) or wild-type…”
Get full text

EPCs and pathological angiogenesis: When good cells go bad by Calzi, Sergio Li, Neu, Matthew B., Shaw, Lynn C., Kielczewski, Jennifer L., Moldovan, Nicanor I., Grant, Maria B.

“…Bone-marrow-derived endothelial progenitor cells (EPCs) contribute to angiogenesis-mediated pathological neovascularization, and recent studies have begun to…”
Get full text

CUILESS2016: a clinical corpus applying compositional normalization of text mentions by Osborne, John D, Neu, Matthew B, Danila, Maria I, Solorio, Thamar, Bethard, Steven J

“…Traditionally text mention normalization corpora have normalized concepts to single ontology identifiers ("pre-coordinated concepts"). Less frequently,…”
Get full text

Clinical utility of genomic sequencing by Neu, Matthew B, Bowling, Kevin M, Cooper, Gregory M

“…Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning…”
Get full text

Clinical utility of genomic sequencing by Neu, Matthew B, Bowling, Kevin M, Cooper, Gregory M

“…Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning…”
Get full text

Genome sequencing as a first-line diagnostic test for hospitalized infants by Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.

“…SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment…”
Get full text

Genomic sequencing identifies secondary findings in a cohort of parent study participants by Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E Martina, Cooper, Gregory M.

“…Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. Exome/genome…”
Get full text

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype by Donkervoort, Sandra, Papadaki, Maria, de Winter, Josine M., Neu, Matthew B., Kirschner, Janbernd, Bolduc, Véronique, Yang, Michele L., Gibbons, Melissa A., Hu, Ying, Dastgir, Jahannaz, Leach, Meganne E., Rutkowski, Anne, Foley, A. Reghan, Krüger, Marcus, Wartchow, Eric P., McNamara, Elyshia, Ong, Royston, Nowak, Kristen J., Laing, Nigel G., Clarke, Nigel F., Ottenheijm, Coen A. C., Marston, Steven B., Bönnemann, Carsten G.

“…Objective Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We…”
Get full text

Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline by Lee, In-Hee, Lee, Kyungjoon, Hsing, Michael, Choe, Yongjoon, Park, Jin-Ho, Kim, Shu Hee, Bohn, Justin M., Neu, Matthew B., Hwang, Kyu-Baek, Green, Robert C., Kohane, Isaac S., Kong, Sek Won

“…ABSTRACT Whole‐genome sequencing (WGS) studies are uncovering disease‐associated variants in both rare and nonrare diseases. Utilizing the next‐generation…”
Get full text

Cell-Based Therapies for Diabetic Retinopathy by Shaw, Lynn C., Neu, Matthew B., Grant, Maria B.

“…Autologous endothelial progenitor cell (EPC) populations represent a novel treatment for therapeutic revascularization and vascular repair for diabetic…”
Get full text

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit by Lemke, Amy A, Thompson, Michelle L, Gimpel, Emily C, McNamara, Katelyn C, Rich, Carla A, Finnila, Candice R, Cochran, Meagan E, Lawlor, James M J, East, Kelly M, Bowling, Kevin M, Latner, Donald R, Hiatt, Susan M, Amaral, Michelle D, Kelley, Whitley V, Greve, Veronica, Gray, David E, Felker, Stephanie A, Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E, Hendon, Laura G, Janani, Hillary M, Johnston, Marla, Merin, Lee Ann, Deans, Sarah L, Tuura, Carly, Hughes, Trent, Williams, Heather, Laborde, Kelly, Neu, Matthew B, Patrick-Esteve, Jessica, Hurst, Anna C E, Kirmse, Brian M, Savich, Renate, Spedale, Steven B, Knight, Sara J, Barsh, Gregory S, Korf, Bruce R, Cooper, Gregory M, Brothers, Kyle B

“…It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents'…”
Get full text

Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods by Hwang, Kyu-Baek, Lee, In-Hee, Park, Jin-Ho, Hambuch, Tina, Choe, Yongjoon, Kim, MinHyeok, Lee, Kyungjoon, Song, Taemin, Neu, Matthew B., Gupta, Neha, Kohane, Isaac S., Green, Robert C., Kong, Sek Won

“…ABSTRACT As whole genome sequencing (WGS) uncovers variants associated with rare and common diseases, an immediate challenge is to minimize false‐positive…”
Get full text

Endothelial progenitor dysfunction in the pathogenesis of diabetic retinopathy: treatment concept to correct diabetes-associated deficits by Li Calzi, Sergio, Neu, Matthew B., Shaw, Lynn C., Grant, Maria B.

“…Progressive obliteration of the retinal microvessels is a characteristic of diabetic retinopathy and the resultant retinal ischemia can lead to…”
Get full text

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay by Hiatt, Susan M, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna C E, Wheless, James W, Lacassie, Yves, Myers, Richard M, Barsh, Gregory S, Sedlacek, Zdenek, Cooper, Gregory M

“…Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the…”
Get full text

Systematic reanalysis of genomic data improves quality of variant interpretation by Hiatt, S.M., Amaral, M.D., Bowling, K.M., Finnila, C.R., Thompson, M.L., Gray, D.E., Lawlor, J.M.J., Cochran, J.N., Bebin, E.M., Brothers, K.B., East, K.M., Kelley, W.V., Lamb, N.E., Levy, S.E., Lose, E.J., Neu, M.B., Rich, C.A., Simmons, S., Myers, R.M., Barsh, G.S., Cooper, G.M.

“…As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve…”
Get full text

TPM 3 deletions cause a hypercontractile congenital muscle stiffness phenotype by Donkervoort, Sandra, Papadaki, Maria, de Winter, Josine M., Neu, Matthew B., Kirschner, Janbernd, Bolduc, Véronique, Yang, Michele L., Gibbons, Melissa A., Hu, Ying, Dastgir, Jahannaz, Leach, Meganne E., Rutkowski, Anne, Foley, A. Reghan, Krüger, Marcus, Wartchow, Eric P., McNamara, Elyshia, Ong, Royston, Nowak, Kristen J., Laing, Nigel G., Clarke, Nigel F., Ottenheijm, Coen A. C., Marston, Steven B., Bönnemann, Carsten G.

Get full text