Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Por Schwartz, Charles E. , May, Melanie M. , Carpenter, Nancy J. , Rogers, R. Curtis , Martin, Judith , Bialer, Martin G. , Ward, Jewell , Sanabria, Javier , Marsa, Silvana , Lewis, James A. , Echeverri, Roberto , Lubs, Herbert A. , Voeller, Kytja , Simensen, Richard J. , Stevenson, Roger E. 
Publicado em 2005

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Por Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve
Publicado em 2012

Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Por Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester, Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Publicado no Hum Mutat (2013)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

Por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado no Hum Mutat (2015)