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Open Access
Peer-reviewed
Research Article
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
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Bari J. Ballew ,
¶BJB, VJ and SD share first authorship.
Affiliation Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America
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Vijai Joseph ,
¶BJB, VJ and SD share first authorship.
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Saurav De ,
¶BJB, VJ and SD share first authorship.
Affiliation Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Grzegorz Sarek,
Affiliation DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, South Mimms, United Kingdom
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Jean-Baptiste Vannier,
Affiliation DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, South Mimms, United Kingdom
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Travis Stracker,
Affiliation Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Kasmintan A. Schrader,
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Trudy N. Small,
Affiliation Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Richard O'Reilly,
Affiliation Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Chris Manschreck,
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Megan M. Harlan Fleischut,
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Liying Zhang,
Affiliation Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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John Sullivan,
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Kelly Stratton,
Affiliation Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Meredith Yeager,
Affiliation Cancer Genomics Research Laboratory, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, United States of America
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Kevin Jacobs,
Affiliation Cancer Genomics Research Laboratory, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, United States of America
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Neelam Giri,
Affiliation Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America
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Blanche P. Alter,
Affiliation Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America
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Joseph Boland,
Affiliation Cancer Genomics Research Laboratory, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, United States of America
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Laurie Burdett,
Affiliation Cancer Genomics Research Laboratory, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, United States of America
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Kenneth Offit,
Affiliations Clinical Genetics Service, Department of Medicine, Memorial Hospital, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Cancer Genetics and Biology Program, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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Simon J. Boulton,
Affiliation DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, South Mimms, United Kingdom
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Sharon A. Savage ,
Contributed equally to this work with: Sharon A. Savage, John H. J. Petrini
* E-mail: savagesh@mail.nih.gov (SAS); petrinij@mskcc.org (JHJP)
Affiliation Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America
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John H. J. Petrini
Contributed equally to this work with: Sharon A. Savage, John H. J. Petrini
* E-mail: savagesh@mail.nih.gov (SAS); petrinij@mskcc.org (JHJP)
Affiliation Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America
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A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
- Bari J. Ballew,
- Vijai Joseph,
- Saurav De,
- Grzegorz Sarek,
- Jean-Baptiste Vannier,
- Travis Stracker,
- Kasmintan A. Schrader,
- Trudy N. Small,
- Richard O'Reilly,
- Chris Manschreck
- Published: August 29, 2013
- https://doi.org/10.1371/journal.pgen.1003695