Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

by Polly J. Ferguson, Hatem El-Shanti
Published 2021-02-01

Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response

by Brittany P. Todd, Michael S. Chimenti, Zili Luo, Polly J. Ferguson, Alexander G. Bassuk, Elizabeth A. Newell
Published 2021-07-01

Physicians’ Perspectives on the Diagnosis and Treatment of Chronic Nonbacterial Osteomyelitis

by Yongdong Zhao, Fatma Dedeoglu, Polly J. Ferguson, Sivia K. Lapidus, Ronald M. Laxer, Miranda C. Bradford, Suzanne C. Li
Published 2017-01-01

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

by Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Published 2017-01-01

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

by Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Published 2017-01-01

Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans.

by Noa Safra, Alexander G Bassuk, Polly J Ferguson, Miriam Aguilar, Rochelle L Coulson, Nicholas Thomas, Peta L Hitchens, Peter J Dickinson, Karen M Vernau, Zena T Wolf, Danika L Bannasch
Published 2013-01-01

Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilo...

by Suzanne C. Li, Robert C. Fuhlbrigge, Ronald M. Laxer, Elena Pope, Maria F. Ibarra, Katie Stewart, Thomas Mason, Mara L. Becker, Sandy Hong, Fatma Dedeoglu, Kathryn S. Torok, C. Egla Rabinovich, Polly J. Ferguson, Marilynn Punaro, Brian M. Feldman, Tracy Andrews, Gloria C. Higgins, For the CARRA Registry Investigators
Published 2019-07-01

Nlrp12 mutation causes C57BL/6J strain-specific defect in neutrophil recruitment

by Tyler K. Ulland, Nidhi Jain, Emma E. Hornick, Eric I. Elliott, Gwendolyn M. Clay, Jeffrey J. Sadler, Kathleen A. M. Mills, Ann M. Janowski, A. Paige Davis Volk, Kai Wang, Kevin L. Legge, Lokesh Gakhar, Mohammed Bourdi, Polly J. Ferguson, Mary E. Wilson, Suzanne L. Cassel, Fayyaz S. Sutterwala
Published 2016-10-01

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

by Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk
Published 2015-03-01

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

by Lily Paemka, Vinit B Mahajan, Jessica M Skeie, Levi P Sowers, Salleh N Ehaideb, Pedro Gonzalez-Alegre, Toshikuni Sasaoka, Hirotaka Tao, Asuka Miyagi, Naoto Ueno, Keizo Takao, Tsuyoshi Miyakawa, Shu Wu, Benjamin W Darbro, Polly J Ferguson, Andrew A Pieper, Jeremiah K Britt, John A Wemmie, Danielle S Rudd, Thomas Wassink, Hatem El-Shanti, Heather C Mefford, Gemma L Carvill, J Robert Manak, Alexander G Bassuk
Published 2013-01-01

Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthrit...

by Gil Amarilyo, Deborah Rothman, Kalpana Manthiram, Kathryn M. Edwards, Suzanne C. Li, Gary S. Marshall, Cagri Yildirim-Toruner, Kathleen Haines, Polly J. Ferguson, Geraldina Lionetti, Julie Cherian, Yongdong Zhao, Patricia DeLaMora, Grant Syverson, Simona Nativ, Marinka Twilt, Ian C. Michelow, Yuriy Stepanovskiy, Akaluck Thatayatikom, Liora Harel, Shoghik Akoghlanian, Lori Tucker, Mariana Correia Marques, Hemalatha Srinivasalu, Evan J. Propst, Greg R. Licameli, Fatma Dedeoglu, Sivia Lapidus, for the CARRA PFAPA Consensus Treatment Plan Workgroup
Published 2020-04-01

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

by Joanne M. Hildebrand, Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison J. Cox, Sanae Miyake, Emma J. Petrie, Michael A. Silk, Zhixiu Li, Maria C. Tanzer, Gabriela Brumatti, Samuel N. Young, Cathrine Hall, Sarah E. Garnish, Jason Corbin, Michael D. Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C. Josefsson, Kristin Rigbye, Holly Anderton, James A. Rickard, Anne Tripaydonis, Julie Sheridan, Thomas S. Scerri, Victoria E. Jackson, Peter E. Czabotar, Jian-Guo Zhang, Leila Varghese, Cody C. Allison, Marc Pellegrini, Gillian M. Tannahill, Esme C. Hatchell, Tracy A. Willson, Dina Stockwell, Carolyn A. de Graaf, Janelle Collinge, Adrienne Hilton, Natasha Silke, Sukhdeep K. Spall, Diep Chau, Vicki Athanasopoulos, Donald Metcalf, Ronald M. Laxer, Alexander G. Bassuk, Benjamin W. Darbro, Maria A. Fiatarone Singh, Nicole Vlahovich, David Hughes, Maria Kozlovskaia, David B. Ascher, Klaus Warnatz, Nils Venhoff, Jens Thiel, Christine Biben, Stefan Blum, John Reveille, Michael S. Hildebrand, Carola G. Vinuesa, Pamela McCombe, Matthew A. Brown, Benjamin T. Kile, Catriona McLean, Melanie Bahlo, Seth L. Masters, Hiroyasu Nakano, Polly J. Ferguson, James M. Murphy, Warren S. Alexander, John Silke
Published 2020-06-01