Publications by authors named "Aziz Belkadi"

19Publications

Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization.

Eur J Hum Genet 2020 Dec 10;28(12):1753-1762. Epub 2020 Jul 10.

Department of Physiology and Biophysics, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.

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December 2020

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Cell 2017 02;168(5):789-800.e10

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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February 2017

Exome and genome sequencing for inborn errors of immunity.

J Allergy Clin Immunol 2016 10;138(4):957-969

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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October 2016

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Proc Natl Acad Sci U S A 2016 06 31;113(24):6713-8. Epub 2016 May 31.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065;

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June 2016

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

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November 2015

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

J Exp Med 2015 Jun 25;212(6):939-51. Epub 2015 May 25.

Division of Immunology and The Manton Center for Orphan Disease Research, Department of Pathology, Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 Harvard Stem Cell Institute, Harvard University, Boston, MA 02115

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June 2015

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

J Exp Med 2015 May 27;212(5):619-31. Epub 2015 Apr 27.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French Institute of Health and Medical Research (INSERM) U1163, 75015 Paris, France Imagine Institute, Paris Descartes University, 75015 Paris, France St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065

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May 2015

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Proc Natl Acad Sci U S A 2015 Apr 31;112(17):5473-8. Epub 2015 Mar 31.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065;

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April 2015

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Immunity 2013 Oct 10;39(4):676-86. Epub 2013 Oct 10.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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October 2013