Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway

por Chiang, Jonathan, Martinez-Agosto, Julian A.
Publicado 2012

Epigenetic age provides insight into tissue origin in endometriosis

por Leap, Katie, Yotova, Iveta, Horvath, Steve, Martinez-Agosto, Julian A.
Publicado 2022

Stem Cell Niche Dynamics: From Homeostasis to Carcinogenesis

por Tieu, Kevin S., Tieu, Ryan S., Martinez-Agosto, Julian A., Sehl, Mary E.
Publicado 2012

Insulin- and Warts-Dependent Regulation of Tracheal Plasticity Modulates Systemic Larval Growth during Hypoxia in Drosophila melanogaster

por Wong, Daniel M., Shen, Zhouyang, Owyang, Kristin E., Martinez-Agosto, Julian A.
Publicado 2014

Support for calcium channel gene defects in autism spectrum disorders

por Lu, Ake Tzu-Hui, Dai, Xiaoxian, Martinez-Agosto, Julian A, Cantor, Rita M
Publicado 2012

Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

por Mullegama, Sureni V., Klein, Steven D., Signer, Rebecca H., Vilain, Eric, Martinez‐Agosto, Julian A.
Publicado 2018

Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis

por Chan, Alvin P., Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian A., Yeh, Joanna
Publicado 2019

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

por Fan, Judith, Senaratne, T. Niroshini, Liu, Jason Y., Bina, Michelle, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola, Wang, Jessica J.
Publicado 2023

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

por Busch, Robyn M., Srivastava, Siddharth, Hogue, Olivia, Frazier, Thomas W., Klaas, Patricia, Hardan, Antonio, Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis
Publicado 2019

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

por Frazier, Thomas W., Jaini, Ritika, Busch, Robyn M., Wolf, Matthew, Sadler, Tammy, Klaas, Patricia, Hardan, Antonio Y., Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis
Publicado 2021

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

por Busch, Robyn M., Frazier II, Thomas W., Sonneborn, Claire, Hogue, Olivia, Klaas, Patricia, Srivastava, Siddharth, Hardan, Antonio Y., Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis
Publicado 2023

Is polycystic kidney disease associated with malignancy in children?

por Friend, Brian D., Wolfe Schneider, Kami, Garrington, Timothy, Truscott, Laurel, Martinez‐Agosto, Julian A., Venick, Robert S., Tsai Chambers, Eileen, Weng, Patricia, Farmer, Douglas G., Chang, Vivian Y., Federman, Noah
Publicado 2019

LGG-10. AN UNUSUAL PRESENTATION OF BILATERAL OPTIC NERVE GLIOMA IN CROUZON SYNDROME

por Na, Brian, Wang, Anthony C, Watterson, Christopher Travis, Martinez-Agosto, Julian A, Saitta, Sulagna, Dutra-Clarke, Marina, Hinkamp, Franceska, Pineles, Stacy L, de Blank, Peter, Chang, Vivian Y, Moore, Theodore
Publicado 2021

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

por Besterman, Aaron D., Althoff, Thorsten, Elfferich, Peter, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan A., van Ierland, Yvette, Kattentidt-Mouravieva, Anja A., Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian A.
Publicado 2021

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

por Mullegama, Sureni V., Klein, Steven D., Williams, Stephen R., Innis, Jeffrey W., Probst, Frank J., Haldeman-Englert, Chad, Martinez-Agosto, Julian A., Yang, Ying, Tian, Yuchen, Elsea, Sarah H., Ezashi, Toshihiko
Publicado 2021

Psychiatric Characteristics Across Individuals With PTEN Mutations

por Steele, Morgan, Uljarević, Mirko, Rached, Gaëlle, Frazier, Thomas W., Phillips, Jennifer M., Libove, Robin A., Busch, Robyn M., Klaas, Patricia, Martinez-Agosto, Julian A., Srivastava, Siddharth, Eng, Charis, Sahin, Mustafa, Hardan, Antonio Y.
Publicado 2021

Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

por Arboleda, Valerie A., Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C., Rodriguez-Fernandez, Imilce A., Braslavsky, Debora, Bergadá, Ignacio, Dell’Angelica, Esteban C., Nelson, Stanley F., Martinez-Agosto, Julian A., Achermann, John C., Vilain, Eric
Publicado 2012

Novel NUDT2 variant causes intellectual disability and polyneuropathy

por Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Publicado 2020

Updates to the Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda

por Hotez, Emily, Haley, Madeline, Martinez-Agosto, Julian A, Anderson, Jeffrey, Brown, Heather, Choi, Kristen, Croen, Lisa A, Dwyer, Patrick, Fernandes, Priyanka, Gassner, Dena, Giwa Onaiwu, Morénike, Gragnani, Candace M, Graham Holmes, Laura, Kapp, Steven, Kim, Dana, Massolo, Maria, Montgomery, Brianna, Natri, Heini M, Rava, Julianna A, Rosenau, Kashia A, Roth, Jeffrey, Rudolph, Dawn, Ryan, Jackie G, Shattuck, Paul, Shea, Lindsay, Williams, Zachary J, Wilson, Rujuta B, Kuo, Alice
Publicado 2023

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

por Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Publicado 2017