Rutledge, S. Lane
https://orcid.org/0000-0003-4668-5626
Mayo Clinic
University of Alabama at Birmingham
Citations 2
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena , Callens, Tom, Chen, Yunjia , Gomes, Alicia , Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim, Armstrong, Linlea , Bosanko, Katherine A. , Babovic‐Vuksanovic, Dusica , Baker, Laura, Basel, Donald , Bengala, Mario, Chambers, Chelsea , Clarkson, L. Kate, Clementi, Maurizio , Cortés, Fanny, Cunningham, Mitch , D’Agostino, Daniela , Delatycki, Martin B. , Digilio, M. Cristina , Dosa, Laura, Esposito, Silvia , Freckmann, Mary‐Louise , Fauth, Christine , Giugliano, Teresa , Giustini, Sandra , Goetsch, Allison L. , Goldberg, Yael , Greenwood, Robert , Griffis, Cristin, Gripp, Karen W. , Gupta, Punita , Haan, Eric , Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J. , Hudgins, Louanne , Janssens, Sandra , Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina , Korf, Bruce R. , Lewis, Andrea M. , Liebelt, Jan, Lichty, Angie, Listernick, Robert , Lyons, Michael J. , Maystadt, Isabelle , Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley , Melis, Daniela , Mendelsohn, Nancy J., Nowaczyk, Małgorzata J.M. , Ortenberg, June, Panzer, Karin, Pappas, John , Pierpont, Mary Ella , Pinna, Valentina, Pivnick, Enikö K., Pond, Dinel , Powell, Cynthia M. , Rogers, Caleb , Ruhrman‐Shahar, Noa , Rutledge, S. Lane , Saletti, Veronica , Sandaradura, Sarah A. , Schatz, Ulrich A. , Schreiber, Allison, Sellars, Elizabeth A. , Siqveland, Elizabeth, Slopis, John M. , Smith, Rosemarie, Spalice, Alberto , Stockton, David W., Streff, Haley , Theos, Amy , Tran, Grace , Trapane, Pamela , Trevisson, Eva , Ullrich, Nicole J. , Ende, Jenneke van den , Wallace, Stephanie E , Weaver, David D. , Yohay, Kaleb , Zackai, Elaine H. , Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen , Eoli, Marica , Wimmer, Katharina , Luca, Alessandro De , Messiaen, Ludwine , Trevisson, Eva , Wangler, Michael F , Claes, Kathleen B M , Wimmer, Katharina , De Luca, Alessandro , Messiaen, Ludwine M , Gupta, Punita , Bennett, James T , Fox, Stephanie, Hernández-Chico, Concepción, Piluso, Giulio , Santoro, Claudia , Scott, Daryl A , Sheffer, Ruth N. , Tomlinson, Gail Elizabeth , Vergano, Samantha A. Schrier , Martín, Yolanda , Legius, Eric
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Shiryaev, Sergey A., Rymen, Daisy , Eklund, Erik A. , Raymond, Kimiyo , Kircher, Martin , Alehan, Füsun, Midro, Alina T. , Bamshad, Michael J. , Barone, Rita , Buckingham, Kati J. , Clarkson, Katie , O’Connor, Shawn, Cooper, Gregory M. , Coster, Rudy Van , Demmer, Laurie , Diogo, Luísa , Fay, Alexander , Fiumara, Agata , Gahl, William A. , Ganetzky, Rebecca , Goel, Himanshu , Harshman, Lyndsay A. , Jaeken, Jaak , James, Philip, Katz, Daniel , Keldermans, Liesbeth, Kibæk, Maria, Kornberg, Andrew J. , Lachlan, Katherine , Lam, Christina , Yaplito‐Lee, Joy , Nickerson, Deborah A. , Peters, Heidi , Race, Valérie , Régal, Luc , Rush, Jeffrey S. , Rutledge, S. Lane , Souche, Erika , Sparks, Susan , Trapane, Pamela , Sanchez‐Valle, Amarilis , Vøllo, Arve, Waechter, Charles J., Wolfe, Lynne A. , Wood, Tim , Yang, Amy , Matthijs, Gert , Freeze, Hudson H. , Blue, Elizabeth , Ng, Bobby G. , Abdenur, José E. , Berry, Gerard T. , Brumbaugh, Jane E. , Cole, Francis Sessions , Ficicioglu, Can H. , He, Miao , Shendure, Jay , Vilain, Eric J. N. , Wang, Raymond , Wong, Derek A. , Freeze, Hudson H , Ganetzky, Rebecca D
Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660