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Geert Mortier

Active 1995–2026

78
Papers
18,403
Citations
63
h-index
75
i10-index

Citations

Citations per year for Geert Mortier1955: 1 citations1995: 1 citations1996: 4 citations1997: 7 citations1998: 12 citations1999: 14 citations2000: 19 citations2001: 38 citations2002: 25 citations2003: 24 citations2004: 32 citations2005: 37 citations2006: 47 citations2007: 67 citations2008: 77 citations2009: 150 citations2010: 178 citations2011: 201 citations2012: 175 citations2013: 204 citations2014: 159 citations2015: 174 citations2016: 152 citations2017: 143 citations2018: 141 citations2019: 518 citations2020: 490 citations2021: 473 citations2022: 314 citations2023: 189 citations2024: 337 citations2025: 118 citations2026: 2 citations1956–1994: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 1,706 citing papers, 21.4% of this breakdownUnited Kingdom: 648 citing papers, 8.1% of this breakdownGermany: 541 citing papers, 6.8% of this breakdownChina: 409 citing papers, 5.1% of this breakdownBelgium: 392 citing papers, 4.9% of this breakdownFrance: 374 citing papers, 4.7% of this breakdownNetherlands: 370 citing papers, 4.6% of this breakdownItaly: 359 citing papers, 4.5% of this breakdownCanada: 351 citing papers, 4.4% of this breakdownAustralia: 261 citing papers, 3.3% of this breakdownJapan: 252 citing papers, 3.1% of this breakdownSpain: 221 citing papers, 2.8% of this breakdown
0%21.4%Other 26.3%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology58.6%
  • Medicine26.8%
  • Agricultural and Biological Sciences5.2%
  • Neuroscience4.3%
  • Immunology and Microbiology2.5%
  • Environmental Science0.9%
  • Other1.7%

Topics

  • Connective tissue disorders research4.7%
  • Genomic variations and chromosomal abnormalities3.6%
  • Genomics and Rare Diseases2.9%
  • Congenital heart defects research2.5%
  • Genetics and Neurodevelopmental Disorders2.3%
  • RNA Research and Splicing1.9%
  • Other82.1%

Coauthors

All papers

Open in search
  1. qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

    Authors: Jan Hellemans, Geert Mortier, Anne De Paepe, Frank Speleman, Jo Vandesompele - Genome biology 2007 cited by 4,058

  2. Nosology of genetic skeletal disorders: 2023 revision

    Authors: Sheila Unger, Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder, Daniel H. Cohn, Valérie Cormier‐Daire, Katta M. Girisha, Christine M Hall, Deborah Krakow, Outi Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga - American Journal of Medical Genetics Part A 2023 cited by 369

  3. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

    Authors: Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner Antonio da Rosa Baratela, James A. Betts, Michael B. Bober, Silvio Boero, Jenna W. Briddell, Jeffrey W. Campbell, Philippe M. Campeau, Patricia Carl-Innig, Moira Cheung, Martyn T. Cobourne, Valérie Cormier‐Daire, Muriel de La Dure‐Molla, Mariana del Pino, Heather Elphick, Virginia Fano, Brigitte Fauroux, Jonathan Gibbins, Mari L. Groves, Lars Hagenäs, Therese Hannon, Julie Hoover‐Fong, Morrys C. Kaisermann, Antonio Leiva‐Gea, Juan Clinton Llerena, William G. Mackenzie, Kenneth W. Martin, Fabio Mazzoleni, Sharon Mcdonnell, Maria Costanza Meazzini, J Milerad, Klaus Mohnike, Geert Mortier, Amaka C Offiah, Keiichi Ozono, John A. Phillips, Steven Powell, Y Prasad, Cathleen Raggio, Pablo Rosselli, Judith Pratt Rossiter, Angelo Selicorni, Marco Sessa, Mary C. Theroux, Matthew Thomas, Laura Trespedi, David E. Tunkel, Colin Wallis, Michael Wright, Natsuo Yasui, Svein O. Fredwall - Nature Reviews Endocrinology 2021 cited by 186

  4. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

    Authors: Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, David W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige - Nature 2012 cited by 586

  5. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

    Authors: Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdallah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert Mortier, Han G. Brunner, Peter H. Byers, Jennifer E. Van Eyk, Lut Van Laer, Harry C. Dietz, Bart Loeys - Nature Genetics 2012 cited by 464

  6. WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

    Authors: Yentl Huybrechts, Geert Mortier, Eveline Boudin, Wim Van Hul - Frontiers in Endocrinology 2020 cited by 126

  7. Nosology and classification of genetic skeletal disorders: 2019 revision

    Authors: Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman - American Journal of Medical Genetics Part A 2019 cited by 608

  8. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Authors: Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen - The American Journal of Human Genetics 2017 cited by 212

  9. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

    Authors: Nikhita Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R. Huyghe, Ann Raes, E Matthys, Emiel Sys, M Azou, Marie-Claire Gübler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnı́zda, Kendrah Kidd, Anthony J. Bleyer, Richard Spong, Johan Vande Walle, Geert Mortier, Han G. Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart Loeys - The American Journal of Human Genetics 2016 cited by 159

  10. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

    Authors: Benson Ogunjimi, Shen‐Ying Zhang, Katrine B. Sørensen, Kristian Alsbjerg Skipper, Madalina E. Carter-Timofte, Gaspard Kerner, Stefanie Luecke, Thaneas Prabakaran, Yujia Cai, Josephina Meester, Esther Bartholomeus, Nikhita Bolar, Geert Vandeweyer, Charlotte Claes, Yasmine Sillis, Lazaro Lorenzo, Raffaele A. Fiorenza, Soraya Boucherit, Charlotte Dielman, Steven Heynderickx, George Elias, Andrea Kurotova, Ann Vander Auwera, Lieve Verstraete, Lieven Lagae, Hélène Verhelst, Anna Jansen, José Ramet, Arvid Suls, Evelien Smits, Berten Ceulemans, Lut Van Laer, Genevieve Plat Wilson, Jonas H Kreth, Capucine Pïcard, Horst von Bernuth, Joël Fluss, Stéphane Chabrier, Laurent Abel, Geert Mortier, Sébastien Fribourg, Jacob Giehm Mikkelsen, Jean‐Laurent Casanova, Søren R. Paludan, Trine H. Mogensen - Journal of Clinical Investigation 2017 cited by 153

  11. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Authors: Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Håkon Håkonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, David W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff - Human Molecular Genetics 2014 cited by 152

  12. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Authors: Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler - New England Journal of Medicine 2008 cited by 811

  13. Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

    Authors: Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, L.I. Al-Gazali, Sarina G. Kant, Trevor Cole, Jenny Morton, Valérie Cormier‐Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert Mortier, Jules G. Leroy, Bernhard Zabel, Chong Ae Kim, Yanick J. Crow, Nancy Braverman, Focco van den Akker, Matthew L. Warman - The American Journal of Human Genetics 2004 cited by 367

  14. Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

    Authors: Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David Fitzpatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John Tolmie, David Chitayat, Gunnar Houge, Lorena T. Fernández‐Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, A von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch - The American Journal of Human Genetics 2007 cited by 359

  15. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    Authors: Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha A. Jensen, Louise Zylberberg, Gwenaëlle Collod‐Béroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie‐Pierre Cordier, Koenraad Devriendt, David Geneviève, Pelin Özlem Simsek Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, M Le Merrer, André Mégarbané, Geert Mortier, Sylvie Odent, Michel Polak, Marianne Rohrbach, David Sillence, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, David L. Rimoin, Vicken Topouchian, Sheila Unger, Bernhard Zabel, Christine Bôle‐Feysot, Patrick Nitschké, Penny A. Handford, Jean‐Laurent Casanova, Cathérine Boileau, Suneel Apte, Arnold Münnich, Valérie Cormier‐Daire - The American Journal of Human Genetics 2011 cited by 233

  16. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Authors: Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans - The American Journal of Human Genetics 2013 cited by 193

  17. The first European consensus on principles of management for achondroplasia

    Authors: Valérie Cormier‐Daire, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, Sérgio B. Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillén‐Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike - Orphanet Journal of Rare Diseases 2021 cited by 64

  18. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

    Authors: Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koenraad Devriendt, Marta Amorim, Nicole Revençu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian Hayes, Elizabeth M. Thompson, Han G. Brunner, Bert B.A. de Vries, Joris A. Veltman - Nature Genetics 2010 cited by 507

  19. Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

    Authors: Ruti Parvari, Rafael Gorodischer, Eli Hershkovitz, Nili Grossman, Bart Loeys, Geert Mortier, Alexandra Zecic, Simon G. Gregory, Reuven Sharony, Nadia Sakati, Abdul Karim Al Humaidan, Fatma Al Zanhrani, Brian F. Meyer, Aida I. Al Aqeel, Marios Kambouris, Abdulrahman Swaid, Johara Al Othman, Aida I. Al Aqeel, Rory Weiner, Bruce D. Gelb, Rory B. Weiner, Ronald Gordon - Nature Genetics 2002 cited by 269

  20. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

    Authors: Josephina Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc Beauchesne, Sheila Unger, Andrea Superti‐Furga, Milan Prša, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart Loeys - Genetics in Medicine 2016 cited by 127

  21. Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

    Authors: Meena Balasubramanian, Aline Verschueren, Simon Kleevens, Ilse Luyckx, Melanie Perik, Schaida Schirwani, Geert Mortier, Hiroko Morisaki, Inez Rodrigus, Lut Van Laer, Aline Verstraeten, Bart Loeys - Bone 2019 cited by 30

  22. Nosology and classification of genetic skeletal disorders: 2010 revision

    Authors: Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga - American Journal of Medical Genetics Part A 2011 cited by 715

  23. Nosology and classification of genetic skeletal disorders: 2015 revision

    Authors: Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger - American Journal of Medical Genetics Part A 2015 cited by 565

  24. Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

    Authors: Ludwine Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman, Anne De Paepe - Human Mutation 2000 cited by 500