Rare Disease Publications

Josephine Wincent, Hafdís T. Helgadóttir, Fotios Sergouniotis, Angelo Salazar Mantero, Claudia M. B. Carvalho, Helena Malmgren, Anna Lindstrand, Erik Iwarsson

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex & Alexandre Reymond

Michelle Tang, Gareth Cromie, Russell Lo, Martin Timour, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée Dudley

Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg & Ana Cristina Victorino Krepischi

Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, Harsha Doddapaneni, Qingchang Meng, Tina Han, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Hua Shen, Jianhong Hu, Yi Han, Casey Riegler, View ORCID ProfileGinger Metcalf, Geoff Henno, Ivan K. Chinn, View Michael A. Eberle, Sarah Kingan, Tim Farinholt, Claudia M.B. Carvalho, Richard A. Gibbs, Zev Kronenberg, Donna Muzny, Fritz J. Sedlazeck

Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt Yozgatli, Shalini N Jhangiani, Donna M Muzny, Richard A Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A Gibbs, V Reid Sutton, Nara Sobreira, Claudia MB Carvalho, Chad A Shaw, Jennifer E Posey, David Valle, James R Lupski

James Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Claudia Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer Posey, Daniel Calame, Maha Zaki

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka ELM Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia MB Carvalho, Chaofan Zhang, James R Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia MB Carvalho, Christos Proukakis, Fritz J Sedlazeck

Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, MIchele Mehaffey, Claudia MB Carvalho, Claudia Gonzaga-Jauregui