Emerging roles and opportunities for rare disease patient advocacy groups

por Patterson, Amy M., O’Boyle, Megan, VanNoy, Grace E., Dies, Kira A.
Publicado 2023

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

por Chopra, Maya, Modi, Meera E., Dies, Kira A., Chamberlin, Nancy L., Buttermore, Elizabeth D., Brewster, Stephanie Jo, Prock, Lisa, Sahin, Mustafa
Publicado 2022

Toward representative genomic research: the children’s rare disease cohorts experience

por Frazier, Zoë J., Brown, Eurnestine, Rockowitz, Shira, Lee, Ted, Zhang, Bo, Sveden, Abigail, Chamberlin, Nancy L., Dies, Kira A., Poduri, Annapurna, Sliz, Piotr, Chopra, Maya
Publicado 2023

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

por Tyburczy, Magdalena E., Dies, Kira A., Glass, Jennifer, Camposano, Susana, Chekaluk, Yvonne, Thorner, Aaron R., Lin, Ling, Krueger, Darcy, Franz, David N., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Publicado 2015

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

por Hardan, Antonio Y., Jo, Booil, Frazier, Thomas W., Klaas, Patricia, Busch, Robyn M., Dies, Kira A., Filip-Dhima, Rajna, Snow, Anne V., Eng, Charis, Hanna, Rabi, Zhang, Bo, Sahin, Mustafa
Publicado 2021

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

por Kothari, Cartik, Srivastava, Siddharth, Kousa, Youssef, Izem, Rima, Gierdalski, Marcin, Kim, Dongkyu, Good, Amy, Dies, Kira A., Geisel, Gregory, Morizono, Hiroki, Gallo, Vittorio, Pomeroy, Scott L., Garden, Gwenn A., Guay-Woodford, Lisa, Sahin, Mustafa, Avillach, Paul
Publicado 2022

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

por Srivastava, Siddharth, Jo, Booil, Zhang, Bo, Frazier, Thomas, Gallagher, Anne Snow, Peck, Fleming, Levin, April R, Mondal, Sangeeta, Li, Zetan, Filip-Dhima, Rajna, Geisel, Gregory, Dies, Kira A, Diplock, Amelia, Eng, Charis, Hanna, Rabi, Sahin, Mustafa, Hardan, Antonio
Publicado 2022

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

por Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicado 2019

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

por Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Publicado 2020