SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nature Genetics2017Vol. 49(2), pp. 238–248
Citations Over TimeTop 1% of 2017 papers
Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski
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