Recommendations for future extensions to the HGNC gene fusion nomenclature

por Wagner, Alex H., Akkari, Yassmine, Li, Marilyn, Roy, Angshumoy, Tsuchiya, Karen, Raca, Gordana
Publicado 2021

Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature

por Wagner, Alex H., Akkari, Yassmine, Li, Marilyn, Roy, Angshumoy, Tsuchiya, Karen, Raca, Gordana
Publicado 2021

GenVisR: Genomic Visualizations in R

por Skidmore, Zachary L., Wagner, Alex H., Lesurf, Robert, Campbell, Katie M., Kunisaki, Jason, Griffith, Obi L., Griffith, Malachi
Publicado 2016

Single-electron and single-photon sensitivity with a silicon Skipper CCD

por Tiffenberg, Javier, Sofo-Haro, Miguel, Drlica-Wagner, Alex, Essig, Rouven, Guardincerri, Yann, Holland, Steve, Volansky, Tomer, Yu, Tien-Tien
Publicado 2017

Normalization of drug and therapeutic concepts with Thera-Py

por Cannon, Matthew, Stevenson, James, Kuzma, Kori, Kiwala, Susanna, Warner, Jeremy L, Griffith, Obi L, Griffith, Malachi, Wagner, Alex H
Publicado 2023

Accessing clinical-grade genomic classification data through the ClinGen Data Platform

por Dalton, Karen P., Rehm, Heidi L., Wright, Matt W., Mandell, Mark E., Krysiak, Kilannin, Babb, Lawrence, Riehle, Kevin, Nelson, Tristan, Wagner, Alex H.
Publicado 2023

Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR‐formatted genomic variants

por Dolin, Robert, Heale, Bret S. E., Gupta, Rohan, Alvarez, Carla, Aronson, Justin, Boxwala, Aziz, Gothi, Shaileshbhai R., Husami, Ammar, Shalaby, James, Babb, Lawrence, Wagner, Alex, Chamala, Srikar
Publicado 2023

Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice

por Sharma, Tasneem P, McDowell, Colleen M, Liu, Yang, Wagner, Alex H, Thole, David, Faga, Benjamin P, Wordinger, Robert J, Braun, Terry A, Clark, Abbot F
Publicado 2014

DGIdb 3.0: a redesign and expansion of the drug–gene interaction database

por Cotto, Kelsy C, Wagner, Alex H, Feng, Yang-Yang, Kiwala, Susanna, Coffman, Adam C, Spies, Gregory, Wollam, Alex, Spies, Nicholas C, Griffith, Obi L, Griffith, Malachi
Publicado 2018

Integration of the Drug–Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts

por Freshour, Sharon L, Kiwala, Susanna, Cotto, Kelsy C, Coffman, Adam C, McMichael, Joshua F, Song, Jonathan J, Griffith, Malachi, Griffith, Obi L, Wagner, Alex H
Publicado 2020

FHIR Genomics: enabling standardization for precision medicine use cases

por Alterovitz, Gil, Heale, Bret, Jones, James, Kreda, David, Lin, Fan, Liu, Lei, Liu, Xin, Mandl, Kenneth D., Poloway, David W., Ramoni, Rachel, Wagner, Alex, Warner, Jeremy L.
Publicado 2020

CIViCpy: A Python Software Development and Analysis Toolkit for the CIViC Knowledgebase

por Wagner, Alex H., Kiwala, Susanna, Coffman, Adam C., McMichael, Joshua F., Cotto, Kelsy C., Mooney, Thomas B., Barnell, Erica K., Krysiak, Kilannin, Danos, Arpad M., Walker, Jason, Griffith, Obi L., Griffith, Malachi
Publicado 2020

Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices

por Rao, Shruti, Pitel, Beth, Wagner, Alex H., Boca, Simina M., McCoy, Matthew, King, Ian, Gupta, Samir, Park, Ben Ho, Warner, Jeremy L., Chen, James, Rogan, Peter K., Chakravarty, Debyani, Griffith, Malachi, Griffith, Obi L., Madhavan, Subha
Publicado 2020

Development and application of a computable genotype model in the GA4GH Variation Representation Specification

por Goar, Wesley, Babb, Lawrence, Chamala, Srikar, Cline, Melissa, Freimuth, Robert R., Hart, Reece K., Kuzma, Kori, Lee, Jennifer, Nelson, Tristan, Prlić, Andreas, Riehle, Kevin, Smith, Anastasia, Stahl, Kathryn, Yates, Andrew D., Rehm, Heidi L., Wagner, Alex H.
Publicado 2023

Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

por Claussnitzer, Melina, Parikh, Victoria N., Wagner, Alex H., Arbesfeld, Jeremy A., Bult, Carol J., Firth, Helen V., Muffley, Lara A., Nguyen Ba, Alex N., Riehle, Kevin, Roth, Frederick P., Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M., Rubin, Alan F.
Publicado 2023

DGIdb 2.0: mining clinically relevant drug–gene interactions

por Wagner, Alex H., Coffman, Adam C., Ainscough, Benjamin J., Spies, Nicholas C., Skidmore, Zachary L., Campbell, Katie M., Krysiak, Kilannin, Pan, Deng, McMichael, Joshua F., Eldred, James M., Walker, Jason R., Wilson, Richard K., Mardis, Elaine R., Griffith, Malachi, Griffith, Obi L.
Publicado 2016

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

por Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
Publicado 2013

Phenopacket-tools: Building and validating GA4GH Phenopackets

por Danis, Daniel, Jacobsen, Julius O. B., Wagner, Alex H., Groza, Tudor, Beckwith, Martha A., Rekerle, Lauren, Carmody, Leigh C., Reese, Justin, Hegde, Harshad, Ladewig, Markus S., Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L., Rambla, Jordi, Baudis, Michael, Mungall, Christopher J., Haendel, Melissa A., Robinson, Peter N.
Publicado 2023

Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing

por Neumann, Olaf, Burn, Timothy C., Allgäuer, Michael, Ball, Markus, Kirchner, Martina, Albrecht, Thomas, Volckmar, Anna-Lena, Beck, Susanne, Endris, Volker, Goldschmid, Hannah, Lehmann, Ulrich, Seker-Cin, Huriye, Uhrig, Sebastian, Roessler, Stephanie, Budczies, Jan, Fröhling, Stefan, Longerich, Thomas, Wagner, Alex H., Vogel, Arndt, Schirmacher, Peter, Stenzinger, Albrecht, Kazdal, Daniel
Publicado 2022

GA4GH Phenopackets: A Practical Introduction

por Ladewig, Markus S., Jacobsen, Julius O. B., Wagner, Alex H., Danis, Daniel, El Kassaby, Baha, Gargano, Michael, Groza, Tudor, Baudis, Michael, Steinhaus, Robin, Seelow, Dominik, Bechrakis, Nikolaos E., Mungall, Christopher J., Schofield, Paul N., Elemento, Olivier, Smith, Lindsay, McMurry, Julie A., Munoz‐Torres, Monica, Haendel, Melissa A., Robinson, Peter N.
Publicado 2022