Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a... by Koczkowska, Magdalena, Chen, Yunjia, Xie, Jing, Callens, Tom, Gomes, Alicia, Wimmer, Katharina, Messiaen, Ludwine M.

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The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion by Wimmer, Katharina, Callens, Tom, Wernstedt, Annekatrin, Messiaen, Ludwine

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 by Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

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Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules by Ben-Shachar, Shay, MD, Dubov, Tom, BSc, Toledano-Alhadef, Hagit, MD, Mashiah, Jacob, MD, Sprecher, Eli, MD, PhD, Constantini, Shlomi, MD, MSc, Leshno, Moshe, MD, PhD, Messiaen, Ludwine M., PhD

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Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning by Anastasaki, Corina, Woo, Albert S, Messiaen, Ludwine M, Gutmann, David H

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High-Throughput Tabular Data Processor - Platform independent graphical tool for processing large data sets by Madanecki, Piotr, Bałut, Magdalena, Buckley, Patrick G, Ochocka, J Renata, Bartoszewski, Rafał, Crossman, David K, Messiaen, Ludwine M, Piotrowski, Arkadiusz

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Elucidating distinct roles for NF1 in melanomagenesis by Maertens, Ophélia, Johnson, Bryan, Hollstein, Pablo, Frederick, Dennie T, Cooper, Zachary A, Messiaen, Ludwine, Bronson, Roderick T, McMahon, Martin, Granter, Scott, Flaherty, Keith, Wargo, Jennifer A, Marais, Richard, Cichowski, Karen

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Le... by Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko

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Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome by Messiaen, Ludwine, Yao, Suxia, Brems, Hilde, Callens, Tom, Sathienkijkanchai, Achara, Denayer, Ellen, Spencer, Emily, Arn, Pamela, Babovic-Vuksanovic, Dusica, Bay, Carolyn, Bobele, Gary, Cohen, Bruce H, Escobar, Luis, Eunpu, Deborah, Grebe, Theresa, Greenstein, Robert, Hachen, Rachel, Irons, Mira, Kronn, David, Lemire, Edmond, Leppig, Kathleen, Lim, Cynthia, McDonald, Marie, Narayanan, Vinodh, Pearn, Amy, Pedersen, Robert, Powell, Berkley, Shapiro, Lawrence R, Skidmore, David, Tegay, David, Thiese, Heidi, Zackai, Elaine H, Vijzelaar, Raymon, Taniguchi, Koji, Ayada, Toranoshin, Okamoto, Fuyuki, Yoshimura, Akihiko, Parret, Annabel, Korf, Bruce, Legius, Eric

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Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria by Plotkin, Scott R., Blakeley, Jaishri O., Evans, D. Gareth, Hanemann, C. Oliver, Hulsebos, Theo J.M., Hunter-Schaedle, Kim, Kalpana, Ganjam V., Korf, Bruce, Messiaen, Ludwine, Papi, Laura, Ratner, Nancy, Sherman, Larry S., Smith, Miriam J., Stemmer-Rachamimov, Anat O., Vitte, Jeremie, Giovannini, Marco

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Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1 by Ko, Jung Min, MD, PhD, Sohn, Young Bae, MD, Jeong, Seon Yong, PhD, Kim, Hyon-Ju, MD, FACMG, Messiaen, Ludwine M., PhD

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Double Inactivation of NF1 in Tibial Pseudarthrosis by Stevenson, David A., Zhou, Holly, Ashrafi, Shadi, Messiaen, Ludwine M., Carey, John C., D’Astous, Jacques L., Santora, Stephen D., Viskochil, David H.

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study by Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D, Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A, Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena

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

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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association by BREMS, Hilde, PARK, Caroline, SLOAN, Jennifer L, YAO, Lawrence, LEE, Chyi-Chia Richard, SCIOT, Raf, DE SMET, Luc, LEGIUS, Eric, STEWART, Douglas R, MAERTENS, Ophélia, PEMOV, Alexander, MESSIA, Ludwine, UPADHYAYA, Meena, CLAES, Kathleen, BEERT, Eline, PEETERS, Kristel, MAUTNER, Victor

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Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 by Maertens, Ophélia, De Schepper, Sofie, Vandesompele, Jo, Brems, Hilde, Heyns, Ine, Janssens, Sandra, Speleman, Frank, Legius, Eric, Messiaen, Ludwine

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Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer by Wang, Xia, Teer, Jamie K., Tousignant, Renee N., Levin, Albert M., Boulware, David, Chitale, Dhananjay A., Shaw, Brandon M., Chen, Zhihua, Zhang, Yonghong, Blakeley, Jaishri O., Acosta, Maria T., Messiaen, Ludwine M., Korf, Bruce R., Tainsky, Michael A.

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Sex-discordant monochorionic twins with blood and tissue chimerism by Rodriguez-Buritica, David, Rojnueangnit, Kitiwan, Messiaen, Ludwine M., Mikhail, Fady M., Robin, Nathaniel H.

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Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer by Putcha, Balananda-Dhurjati Kumar, Jia, Xu, Katkoori, Venkat Rao, Salih, Chura, Shanmugam, Chandrakumar, Jadhav, Trafina, Bovell, Liselle C, Behring, Michael P, Callens, Tom, Messiaen, Ludwine, Bae, Sejong, Grizzle, William E, Singh, Karan P, Manne, Upender

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Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients by Maertens, Ophélia, Prenen, Hans, Debiec-Rychter, Maria, Wozniak, Agnieszka, Sciot, Raf, Pauwels, Patrick, De Wever, Ivo, Vermeesch, Joris R., de Raedt, Thomas, De Paepe, Anne, Speleman, Frank, van Oosterom, Allan, Messiaen, Ludwine, Legius, Eric

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