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Journal of Medical Genetics
JournalCitation impact & published research
Journal of Medical Genetics is a journal indexed in ScholarIQ from OpenAlex.
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What are the most-cited papers on Journal of Medical Genetics?
ScholarIQmost cited works
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Marie E. Faughnan, Valerie A. Palda, Guadalupe García–Tsao, Urban W. Geisthoff, Jamie McDonald, Deborah D. Proctor, John C. Spears, Dale Brown, Elisabetta Buscarini, Mark S. Chesnutt, Vincent Cottin, Arupa Ganguly, James R. Gossage, Alan E. Guttmacher, Robert H. Hyland, Shelley Kennedy, Joshua R. Korzenik, Johannes J. Mager, Augustin Ozanne, Jay F. Piccirillo, Daniel Picus, Henri Plauchu, Mary Porteous, Reed E. Pyeritz, Douglas A. Ross, Carlo Sabbà, Karen L. Swanson, P. B. Terry, M. Christopher Wallace, C. J. J. Westermann, Robert I. White, Lawrence H. Young, Roberto Zarrabeitia
Von Hippel-Lindau disease: a genetic study.
Eamonn R. Maher, L Iselius, John R.W. Yates, M Littler, Caroline Benjamin, R Harris, Julian R. Sampson, A. Prysor Williams, M.A. Ferguson‐Smith, Newton E. Morton
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
Hans F. A. Vasen, Gabriela Möslein, Ángel Alonso, Inge Bernstein, Lucio Bertario, Ignacio Blanco, John Burn, Gabriel Capellá, Christoph Engel, Ian M. Frayling, W. Friedl, Frederik J. Hes, Shirley Hodgson, J-P Mecklin, Pia Krause Møller, Fokko M. Nagengast, Yann Parc, Laura Renkonen‐Sinisalo, Julian R. Sampson, Astrid Stormorken, JT Wijnen
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Helen Dickinson, James E. Gentile, David J. Harris, Vishwajit Hegde, Rachel J. Hundley, Omar Khwaja, Sanjeev V. Kothare, Christina Luedke, Ramzi Nasir, Annapurna Poduri, Konasale M. Prasad, Peter Raffalli, Antoine Reinhard, Stephen Smith, Magdi M. Sobeih, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, W-H Tan, Joseph V. Thakuria, Robert R. Wolff, RAMIL I. YUSUPOV, James F. Gusella, Mark J. Daly, B-L Wu
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Derralynn Hughes, Kathy Nicholls, Suma P. Shankar, Gere Sunder–Plassmann, David M. Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P. Germain, Özlem Göker-Alpan, É. Hachulla, Ana Jovanović, Charles Marques Lourenço, Ichiei Narita, Mark Thomas, William R. Wilcox, Daniel G. Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin K. Johnson, Pol Boudes, Elfrida R. Benjamin, David J. Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P. Castelli, Jay Barth, Ulla Feldt‐Rasmussen