SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
Authors: Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer E. Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E. Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C.Y. Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler M. Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, Maria J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale , Joseph D. Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Undiagnosed Disease Network, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld , Andrew C. Edmondson, Stephanie Grunewald, Hudson H. Freeze
Published in: Human Mutation
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q1