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 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 2014

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

por Lenberg, Jerica L., Pretorius, Dolores H., Rupe, Eric S., Jones, Marilyn C., Ramos, Gladys A., Andreasen, Tara S.
Publicado 2019

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

por Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali
Publicado 2017

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

por Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.
Publicado 2020

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm...

por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Publicado 2018

Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn

por Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.
Publicado 2017

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor

por Tootleman, Eva, Malamut, Barbara, Akshoomoff, Natacha, Mattson, Sarah N., Hoffman, Hal M., Jones, Marilyn C., Printz, Beth, Shiryaev, Sergey A., Grossfeld, Paul
Publicado 2019

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

por Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
Publicado 2019