Colin L Sweeney - National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)

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211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects

Ana Esteve Sole,Luis Ignacio González-Granado,Brigette Boast,Julie E. Niemela, Jennifer L. Stoddart, Agustin G. Silva,Leticia Pias,Merce Bolasell,Ana V. Marin,Jose R Regueiro,Laia Alsina, Pierre Martine, Kate Brown, Ettore Apella, Juan Francisco Quesada,Colin L Sweeney,Harry Malech,Cathryn L Haigh, HyeSun Kueh,Sergio Rosenzweig

Clinical Immunology（2024）

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New Syndromic Combined Immunodeficiency with Severe Neurodevelopmental Defects Caused by Biallelic Null Variants in the PPM1D Gene

Ana Esteve Sole,Luis Ignacio Gonzalez-Granado,Brigette Boast,Julie E. Niemela, Jennifer L. Stoddart, Agustin G. Silva,Leticia Pias,Merce Bolasell,Ana V. Marin, Jose R. Regueiro,Laia Alsina, Pierre Martine, Kate Brown, Ettore Apella, Juan Francisco Quesada,Colin L. Sweeney,Harry Malech,Cathryn L. Haigh, HyeSun Kueh,Sergio Rosenzweig

CLINICAL IMMUNOLOGY（2024）

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Biallelic Human SHARPIN Loss of Function Induces Autoinflammation and Immunodeficiency

Hirotsugu Oda,Kalpana Manthiram,Pallavi Pimpale Chavan,Eva Rieser, Oenay Veli, Oeykue Kaya,Charles Rauch,Shuichiro Nakabo,Hye Sun Kuehn, Mariel Swart, Yanli Wang, Nisa Ilgim Celik,Anne Molitor,Vahid Ziaee,Nasim Movahedi,Mohammad Shahrooei,Nima Parvaneh, Nasrin Alipour-Olyei,Raphael Carapito,Qin Xu,Silvia Preite,David B. Beck,Jae Jin Chae,Michele Nehrebecky,Amanda K. Ombrello,Patrycja Hoffmann,Tina Romeo,Natalie T. Deuitch,Brynja Matthiasardottir,James Mullikin,Hirsh Komarow,Jennifer Stoddard,Julie Niemela,Kerry Dobbs,Colin L. Sweeney,Holly Anderton,Kate E. Lawlor,Hiroyuki Yoshitomi, Dan Yang,Manfred Boehm,Jeremy Davis,Pamela Mudd,Davide Randazzo,Wanxia Li Tsai,Massimo Gadina,Mariana J. Kaplan,Junya Toguchida,Christian T. Mayer,Sergio D. Rosenzweig,Luigi D. Notarangelo,Kazuhiro Iwai,John Silke,Pamela L. Schwartzberg,Bertrand Boisson,Jean-Laurent Casanova,Seiamak Bahram,Anand Prahalad Rao,Nieves Peltzer,Henning Walczak,Najoua Lalaoui,Ivona Aksentijevich,Daniel L. Kastner

NATURE IMMUNOLOGYno. 5 (2024)

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CRISPR/Cas9-mediated Cxcr4 Disease Allele Inactivation for Gene Therapy in a Mouse Model of WHIM Syndrome

Ji-Liang Gao,Albert Owusu-Ansah,Alexander Yang,Erin Yim,David H McDermott,Paejonette Jacobs,Shamik Majumdar,Uimook Choi,Colin L Sweeney,Harry L Malech,Philip M Murphy

Blood（2023）

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Extracellular Vesicles Derived from the Intestinal Microbiota of Patients with CGD-associated Inflammatory Bowel Disease Have Pro-Inflammatory Effects

Alexandre Villard,Christa Zerbe,Colin Sweeney,Suk See DeRavin,Harry Malech,Steven Holland,Emilia Falcone

CLINICAL IMMUNOLOGY（2023）

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The Promise of in Vivo HSC Prime Editing

Colin L. Sweeney,Suk See De Ravin

Bloodno. 17 (2023): 2039-2040

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Lentivector Cryptic Splicing Mediates Increase in CD34+ Clones Expressing Truncated HMGA2 in Human X-linked Severe Combined Immunodeficiency

Nature Communicationsno. 1 (2022)

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Proteomic approach for creation of the protein marker panels to control the quality of human induced pluripotent stem cells

Natalia S. Pripuzova,Melkamu Getie-Kebtie,Christopher Grunseich,Colin Sweeney,Michail A. Alterman

Current Topics in iPSCs Technologypp.451-482, (2022)

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A Noncoding Germline Variant Creates a Gain-of-Function De Novo Enhancer That up-Regulates IL5 Transcription to Cause Familial Hypereosinophilia, Revealing a Previously Undescribed Mechanism for Human Disease

Jung-Hyun Kim,Abbie Bowman, Senbagavalli Babu,Jan Cools,Sofie Demeyer,Majid Kazemian,Warren Leonard,Jian-Xin Lin,Michelle Makiya, Mathieu Perez,Colin L. Sweeney,Luis M. Franco,Neelam Redekar,Justin Lack,Linda Resar,Amy D. Klion

Blood（2022）

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