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Kelly Maurer
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Journal Articles

A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot

Gonench Kilich, Kelly Maurer, Christopher Breen, Erica Schindewolf, Kelly Hassey, Priscila Cunha, Trusha Patel, Maire Conrad, Brooke Boyer, Judith Kelsen, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.143.
https://doi.org/10.70962/CIS2025abstract.143
Published: 25 April 2025
View article titled, A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot
Journal Articles

Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations

Gonench Kilich, Erica Schindewolf, Lauren Lairson, Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Kelly Hassey, Adeline Vanderver, Rebecca Ganetzky, Cara Skraban, Christopher Breen, Ramakrishnan Rajagopalan, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.147.
https://doi.org/10.70962/CIS2025abstract.147
Published: 25 April 2025
View article titled, Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations
Journal Articles

Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections

Nouf Alsaati, Katherine Beigel, Kelly Maurer, Montana Knight, Donna McDonald-McGinn, T. Blaine Crowley, Sarah Henrickson, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.5.
https://doi.org/10.70962/CIS2025abstract.5
Published: 25 April 2025
View article titled, Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections
Journal Articles

Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia

Samantha Starkey, Kelly Maurer, Anne Bassett, Sarah Henrickson, Audrey Green, Victoria Guinta, Daniel McGinn, Bekah Wang, T. Blaine Crowley, Donna McDonald-McGinn, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.114.
https://doi.org/10.70962/CIS2025abstract.114
Published: 25 April 2025
View article titled, Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia
Journal Articles

VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement

Gonench Kilich, Erica Schindewolf, Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Edward Behrens, Kelly Hassey, Adeline Vanderver, Rebecca Ganetzky, Cara Skraban, Ramakrishnan Rajagopalan, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.145.
https://doi.org/10.70962/CIS2025abstract.145
Published: 25 April 2025
View article titled, VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement
Journal Articles

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

In Special Collection:
Stem Cell Collection 2021
Carole Le Coz, David N. Nguyen, Chun Su, Brian E. Nolan, Amanda V. Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, Peixin Amy Chen, Samuel Yoon, Amy L. Stiegler, Kelly Maurer, James P. Garifallou, Amy Rymaszewski, Steven H. Kroft, Timothy S. Olson, Alix E. Seif, Gerald Wertheim, Struan F.A. Grant, Linda T. Vo, Jennifer M. Puck, Kathleen E. Sullivan, John M. Routes, Viktoria Zakharova, Anna Shcherbina, Anna Mukhina, Natasha L. Rudy, Anna C.E. Hurst, T. Prescott Atkinson, Titus J. Boggon, Hakon Hakonarson, Adam R. Abate, Joud Hajjar, Sarah K. Nicholas, James R. Lupski, James Verbsky, Ivan K. Chinn, Michael V. Gonzalez, Andrew D. Wells, Alex Marson, Gregory M.K. Poon, Neil Romberg
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (7): e20201750.
https://doi.org/10.1084/jem.20201750
Published: 05 May 2021
View article titled, Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
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