Statins, bone, and neurofibromatosis type 1

por Korf, Bruce R
Publicado 2008

Genomic medicine: educational challenges

por Korf, Bruce R
Publicado 2013

Closing the loop: Editors' feedback on the ASHG readership survey

por Bamshad, Michael J., Korf, Bruce R.
Publicado 2022

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014

por Korf, Bruce R, Blitzer, Miriam G, Demmer, Laurie A, Feldman, Gerald L, Watson, Michael S
Publicado 2017

Affinity Purification of NF1 Protein–Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners

por Carnes, Rachel M., Kesterson, Robert A., Korf, Bruce R., Mobley, James A., Wallis, Deeann
Publicado 2019

American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing

por Grody, Wayne W., Griffin, John H., Taylor, Annette K., Korf, Bruce R., Heit, John A.
Publicado 2001

Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis

por Bevans, Stephanie L., Mayo, Tiffany T., Pavlidakey, Peter G., Cannon, Ashley D., Korf, Bruce R., Mercado, Patricia J.
Publicado 2018

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C

por Awad, Elias K., Moore, Marc, Liu, Hui, Ciszewski, Lukasz, Lambert, Laura, Korf, Bruce R., Popplewell, Linda, Kesterson, Robert A., Wallis, Deeann
Publicado 2021

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

por Kazamel, Mohamed, Lopez, Michael A., Bebin, Martina, Bowling, Kevin, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Hurst, Anna C.E., Ubogu, Eroboghene E.
Publicado 2020

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

por Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei
Publicado 2019

An Update on Neurofibromatosis Type 1-Associated Gliomas

por Lobbous, Mina, Bernstock, Joshua D., Coffee, Elizabeth, Friedman, Gregory K., Metrock, Laura K., Chagoya, Gustavo, Elsayed, Galal, Nakano, Ichiro, Hackney, James R., Korf, Bruce R., Nabors, Louis B.
Publicado 2020

Mutation-Directed Therapeutics for Neurofibromatosis Type I

por Leier, Andre, Bedwell, David M., Chen, Ann T., Dickson, George, Keeling, Kim M., Kesterson, Robert A., Korf, Bruce R., Marquez Lago, Tatiana T., Müller, Ulrich F., Popplewell, Linda, Zhou, Jiangbing, Wallis, Deeann
Publicado 2020

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

por Li, Kairong, Turner, Ashley N., Chen, Min, Brosius, Stephanie N., Schoeb, Trenton R., Messiaen, Ludwine M., Bedwell, David M., Zinn, Kurt R., Anastasaki, Corina, Gutmann, David H., Korf, Bruce R., Kesterson, Robert A.
Publicado 2016

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

por Lessel, Ivana, Chen, Mei-Jan, Lüttgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nürnberg, Peter, Korf, Bruce R., Kubisch, Christian, Lessel, Davor
Publicado 2020

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

por Leier, André, Moore, Marc, Liu, Hui, Daniel, Michael, Hyde, Alexis M., Messiaen, Ludwine, Korf, Bruce R., Selvakumaran, Jamuna, Ciszewski, Lukasz, Lambert, Laura, Foote, Jeremy, Wallace, Margaret R., Kesterson, Robert A., Dickson, George, Popplewell, Linda, Wallis, Deeann
Publicado 2022

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

por Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.
Publicado 2022

338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

por Limdi, Nita A, Absher, Devin, Asif, Irf, Bateman, Lori, Barsh, Greg, Bowling, Kevin M., Cooper, Gregory M., Davis, Brittney H., East, Kelly M., Finnila, Candice R., Goff, Blake, Hiatt, Susan, Kelly, Melissa, Kelley, Whitley V., Korf, Bruce R., Latner, Donald R., Lawlor, James, May, Thomas, Might, Matt, Moss, Irene P., Nakano-Okuno, Mariko, Osborne, Tiffany, Sodeke, Stephen, Stout, Adriana, Thompson, Michelle L.
Publicado 2023

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

por Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.
Publicado 2021

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

por Kontaridis, Maria I., Roberts, Amy E., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E., Bakker, Annette, Bennett, Anton M., Broniscer, Alberto, Castel, Pau, Chang, Caitlin A., Cyganek, Lukas, Das, Tirtha K., den Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D., Gordon, Kristiana, Green, Tamar, Gripp, Karen W., Itkin, Maxim, Kiuru, Maija, Korf, Bruce R., Livingstone, Jeff R., López‐Juárez, Alejandro, Magoulas, Pilar L., Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I., Plouffe, Kevin, Rauen, Katherine A., Shankar, Suma P., Smith, Shane B., Stevenson, David A., Tartaglia, Marco, Van, Richard, Wagner, Morgan E., Ware, Stephanie M., Zenker, Martin
Publicado 2022

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

por 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.
Publicado 2023