Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Por Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma
Publicado em 2014

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Por Shah, Forum T., Steinhaus French, Kathryn, Osann, Kathryn E., Bocian, Maureen, Jones, Marilyn C., Korty, Lauren
Publicado no J Clin Med (2014)

Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene

Por Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.
Publicado no Am J Med Genet A (2016)

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Por Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Publicado no Eur J Hum Genet (2017)

Clinical and Molecular Characterization of Patients with Distal 11q Deletions

Por Penny, Laura A., Dell'Aquila, Marie, Jones, Marilyn C., Bergoffen, JoAnn, Cunniff, Christopher, Fryns, Jean-Pierre, Grace, Elizabeth, Graham, John M., Kousseff, Boris, Mattina, Teresa, Syme, James, Voullaire, Lucille, Zelante, Leopoldo, Zenger-Hain, Julie, Jones, Oliver W., Evans, Glen A.
Publicado em 1995

Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency

Por Boland, Brigid S., Widjaja, Christella E., Banno, Asoka, Zhang, Bing, Kim, Stephanie H., Stoven, Samantha, Peterson, Michael R., Jones, Marilyn C., Su, H. Irene, Crowe, Sheila E., Bui, Jack D., Ho, Samuel B., Okugawa, Yoshinaga, Goel, Ajay, Marietta, Eric V., Khosroheidari, Mahdieh, Jepsen, Kristen L., Aramburu, Jose, Lopez-Rodriguez, Cristina, Sandborn, William J., Murray, Joseph A., Harismendy, Olivier, Chang, John T.
Publicado no J Immunol (2015)

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Por Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Publicado no Eur J Hum Genet (2015)

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Por Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Publicado no Am J Hum Genet (2016)

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Por Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia, Rosenbaum, Kenneth, Vallee, Stephanie, Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.
Publicado em 2012