Primary Immunodeficiency Testing in a Massachusetts Tertiary Care NICU: Persistent Challenges in the Extremely Premature Population

por Frazer, Lauren C., O’Connell, Amy E.
Publicado 2020

Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis

por Gordon, Scott M., O’Connell, Amy E.
Publicado 2021

Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term

por Morton, Sarah U., Schnur, Maureen, Kerper, Rylee, Young, Vanessa, O’Connell, Amy E.
Publicado 2022

Insights into the Role of Commensal-Specific T Cells in Intestinal Inflammation

por Gehlhaar, Arne, Inala, Ashwin, Llivichuzhca-Loja, Dhana, Silva, Tatiana N, Adegboye, Comfort Y, O’Connell, Amy E, Konnikova, Liza
Publicado 2022

Wnt2b Is Essential for Adrenocortical Progenitor Cell Fate and Zona Glomerulosa Identity in Vivo

por Little, Donald W, Borges, Kleiton S, Basham, Kaitlin J, O’Connell, Amy E, LaPensee, Christopher R, Breault, David T, Hammer, Gary D
Publicado 2021

Ectopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B

por Blomfield, Alexandra K., Maurya, Meenakshi, Bora, Kiran, Pavlovich, Madeline C., Yemanyi, Felix, Huang, Shuo, Fu, Zhongjie, O’Connell, Amy E., Chen, Jing
Publicado 2023

OR04-2 WNT2B Deficiency Results in Hyperreninemic Hypoaldosteronism in Humans and Mice

por Azova, Svetlana, Basham, Kaitlin, Breault, David, Hammer, Gary, LaPensee, Christopher, O’Connell, Amy, Ribeiro, Claudio, Silva Borges, Kleiton, Turcu, Adina, Little III, Donald
Publicado 2022

Antimicrobial peptides modulate lung injury by altering the intestinal microbiota

por Abdelgawad, Ahmed, Nicola, Teodora, Martin, Isaac, Halloran, Brian A., Tanaka, Kosuke, Adegboye, Comfort Y., Jain, Pankaj, Ren, Changchun, Lal, Charitharth V., Ambalavanan, Namasivayam, O’Connell, Amy E., Jilling, Tamás, Willis, Kent A.
Publicado 2023

Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis

por Zhang, Yanjia Jason, Jimenez, Lissette, Azova, Svetlana, Kremen, Jessica, Chan, Yee-Ming, Elhusseiny, Abdelrahman M., Saeed, Hajirah, Goldsmith, Jeffrey, Al-Ibraheemi, Alyaa, O’Connell, Amy E., Kovbasnjuk, Olga, Rodan, Lance, Agrawal, Pankaj B., Thiagarajah, Jay R.
Publicado 2021

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

por O’Connell, Amy E., Gerashchenko, Maxim V., O’Donohue, Marie-Francoise, Rosen, Samantha M., Huntzinger, Eric, Gleeson, Diane, Galli, Antonella, Ryder, Edward, Cao, Siqi, Murphy, Quinn, Kazerounian, Shideh, Morton, Sarah U., Schmitz-Abe, Klaus, Gladyshev, Vadim N., Gleizes, Pierre-Emmanuel, Séraphin, Bertrand, Agrawal, Pankaj B.
Publicado 2019

Next Generation Sequencing Reveals Skewing of the T and B Cell Receptor Repertoires in Patients with Wiskott–Aldrich Syndrome

por O’Connell, Amy E., Volpi, Stefano, Dobbs, Kerry, Fiorini, Claudia, Tsitsikov, Erdyni, de Boer, Helen, Barlan, Isil B., Despotovic, Jenny M., Espinosa-Rosales, Francisco J., Hanson, I. Celine, Kanariou, Maria G., Martínez-Beckerat, Roxana, Mayorga-Sirera, Alvaro, Mejia-Carvajal, Carmen, Radwan, Nesrine, Weiss, Aaron R., Pai, Sung-Yun, Lee, Yu Nee, Notarangelo, Luigi D.
Publicado 2014