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Journal Articles

Nominating Genetically Driven Immune Disease Genes for BEACONS: The First U.S. Multistate Genomic Newborn Screening Initiative

Xiao P. Peng, Matthew J. Kan, Jennifer M. Puck, Joshua Milner, Britt Johnson, Rebecca Marsh, Roshini Abraham, Ivona Aksentijevich, Charles J. Billington, Jr., Manish J. Butte, Scott Canna, Shanmuganathan Chandrakasan, Samuel Cern Cher Chiang, Ottavia M. Delmonte, Raphaela Goldbach-Mansky, Eyal Grunebaum, Rebecca Hale, Maleewan Kitcharoensakkul, Craig Platt, Daniella Schwartz, Christine M. Seroogy, Kathleen Sullivan, Teresa Tarrant, Hannie Zomer, Amber Begtrup, Steven E. Brenner, Stephanie A. Coury, Dalia Kasperaviciute, Thomas Minton, Harini Somanchi, Jay R. Thiagarajah, Carrie Blout Zawatsky, Rebekah Zimmerman, Ingrid Holm, Melissa Wasserstein, Robert Green, Nina Gold
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.80.
https://doi.org/10.70962/CIS2026abstract.80
Published: 01 May 2026
View article titled, Nominating Genetically Driven Immune Disease Genes for BEACONS: The First U.S. Multistate Genomic Newborn Screening Initiative
Journal Articles

A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)

Vaibhavi Vichare, Monica Molina, Russell D'Aiello, Gonench Kilich, Charlotte Cunningham Rundles, Roshini Abraham, Jennifer Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.25.
https://doi.org/10.70962/CIS2026abstract.25
Published: 01 May 2026
View article titled, A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)
Journal Articles

Decoding RELA-Related Disease: A Spectrum of Immune Dysregulation in a Large Global Cohort

Gayathri Dileepan, Amrita Basu, PhD, Elizabeth Murray, MD, Hugo Chapdelaine, MD, Katherine D’Astous-Gauthier, MD, Monica G. Lawrence, MD, Ross Maltz, MD, Maxime Paquin, MD, Xiao Peng, MD, PhD, Luis F. Saca, MD, Alysha Taxter, MD, Victoria S. Towers, Alex M. Wonnaparhown, MD, Ofer Zimmerman, MD, Shoghik Akoghlanian, MD, Eric Allenspach, MD, PhD, Saleh Alsulami, MD, Motasem O. Alsuweiti, MD, Kaveh Ardalan, MD, MS, Lori Broderick, MD, PhD, Dita Cebecauerova, PhD, Ruth Chan, DO, Joyce Chang, MD, MSCE, Fatma Dedeoglu, Adi Efron, MD, Lina Igel, Dr. med, Leslie Naesens, MD, Peter Nigrovic, MD, Amanda K. Ombrello, MD, Nurcicek Padem, MD, Natalie Rosenwasser, MD, Judith Sanchez-Manubens, PhD, Victor Skrie, MD, Shaoling Zheng, MD, Lily Guo, Vidya Sivaraman, MD, Roshini Abraham, PhD, D(ABMLI)
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.7.
https://doi.org/10.70962/CIS2026abstract.7
Published: 01 May 2026
View article titled, Decoding RELA-Related Disease: A Spectrum of Immune Dysregulation in a Large Global Cohort
Journal Articles

Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry

Michelle Onyekaba, Gonench Kilich, Vaibhavi Vichare, Charlotte Cunningham Rundles, Jennifer Puck, Ramsay Fuleihan, Rebecca Marsh, Luigi Notarangelo, Roshini Abraham, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.185.
https://doi.org/10.70962/CIS2025abstract.185
Published: 25 April 2025
View article titled, Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry
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