Bertrand Boisson

Bertrand Boisson

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Bertrand Boisson

Bertrand Boisson

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SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Nucleic Acids Res 2019 May 2. Epub 2019 May 2.

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/nar/gkz326DOI Listing
May 2019

A 44-Year-Old Female With Overwhelming Sepsis.

Clin Infect Dis 2019 Feb;68(4):712

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York.

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http://dx.doi.org/10.1093/cid/ciy742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355820PMC
February 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Sci Immunol 2018 Dec;3(30)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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http://immunology.sciencemag.org/lookup/doi/10.1126/sciimmun
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http://dx.doi.org/10.1126/sciimmunol.aau8714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341984PMC
December 2018

Human hyper-IgE syndrome: singular or plural?

Mamm Genome 2018 08 9;29(7-8):603-617. Epub 2018 Aug 9.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s00335-018-9767-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317873PMC
August 2018

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

J Clin Immunol 2017 Jul 9;37(5):397-412. Epub 2017 Jun 9.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.

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http://dx.doi.org/10.1007/s10875-017-0400-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563390PMC
July 2017

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Clin Immunol 2016 Dec 28;173:117-120. Epub 2016 Sep 28.

Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.09.011DOI Listing
December 2016

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074686PMC
http://dx.doi.org/10.1016/j.jaci.2016.08.003DOI Listing
October 2016

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Front Immunol 2016 13;7:220. Epub 2016 Jun 13.

Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.3389/fimmu.2016.00220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4903998PMC
July 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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http://dx.doi.org/10.1073/pnas.1606460113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914194PMC
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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http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

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 U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Disruption of Parasite hmgb2 Gene Attenuates Plasmodium berghei ANKA Pathogenicity.

Infect Immun 2015 Jul 27;83(7):2771-84. Epub 2015 Apr 27.

Sorbonne Universités, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Paris, France INSERM, U1135, CIMI-Paris, Paris, France CNRS, ERL 8255, CIMI-Paris, Paris, France

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http://dx.doi.org/10.1128/IAI.03129-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468538PMC
July 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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http://dx.doi.org/10.1084/jem.20141130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451137PMC
June 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
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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http://dx.doi.org/10.1084/jem.20141065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419340PMC
May 2015

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

Front Pediatr 2015 16;3:28. Epub 2015 Apr 16.

Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital , Houston, TX , USA.

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http://dx.doi.org/10.3389/fped.2015.00028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398912PMC
May 2015

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.

Science 2015 Apr 26;348(6233):448-53. Epub 2015 Mar 26.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. University Paris Descartes, Imagine Institute, Paris, France. Pediatric Immuno-Hematology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France. Howard Hughes Medical Institute, New York, NY, USA.

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http://dx.doi.org/10.1126/science.aaa1578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431581PMC
April 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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http://dx.doi.org/10.1073/pnas.1418631112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418901PMC
April 2015

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Curr Opin Immunol 2015 Feb 31;32:90-105. Epub 2015 Jan 31.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Paris Descartes University, Imagine Institute, Paris 75015, France; Pediatric Hematology-Immunology and Rheumatology Unit, AP-HP, Necker Hospital for Sick Children, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.coi.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364384PMC
February 2015

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

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http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 2014

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

Clin Infect Dis 2014 Jul 23;59(2):244-51. Epub 2014 Apr 23.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR1163 University Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France Pediatric Hematology-Immunology Unit, Necker-Enfants Malades Hospital, Paris, France Center for the Study of Primary Immunodeficiencies, APHP, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1093/cid/ciu274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102913PMC
July 2014

LUBAC: A new function in immunity.

J Exp Med 2014 Jun;211(7):1272

The Rockefeller University and Howard Hughes Medical Institute; Paris Descartes University; INSERM, Necker Hospital for Sick Children.

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http://dx.doi.org/10.1084/jem.2117insight3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076582PMC
June 2014

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

BMC Genomics 2014 Apr 3;15:256. Epub 2014 Apr 3.

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

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http://dx.doi.org/10.1186/1471-2164-15-256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051124PMC
April 2014

TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO-IKK supramolecular structures.

J Cell Biol 2014 Jan;204(2):231-45

Unité de Signalisation Moléculaire et Activation Cellulaire and 2 Laboratoire Trafic Membranaire et Division Cellulaire, Institut Pasteur, Centre National de la Recherche Scientifique URA 2582, Paris 75015, France.

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http://www.jcb.org/lookup/doi/10.1083/jcb.201307172
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http://dx.doi.org/10.1083/jcb.201307172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897181PMC
January 2014

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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https://linkinghub.elsevier.com/retrieve/pii/S10747613130039
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http://dx.doi.org/10.1016/j.immuni.2013.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873857PMC
October 2013

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.

J Exp Med 2010 Oct 27;207(11):2307-12. Epub 2010 Sep 27.

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

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http://dx.doi.org/10.1084/jem.20101597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964585PMC
October 2010

LISP1 is important for the egress of Plasmodium berghei parasites from liver cells.

Cell Microbiol 2009 Sep 6;11(9):1329-39. Epub 2009 May 6.

Institut Pasteur, Biologie et Génétique du Paludisme, 75724 Paris cedex 15, France.

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http://dx.doi.org/10.1111/j.1462-5822.2009.01333.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774474PMC
September 2009

Clonal conditional mutagenesis in malaria parasites.

Cell Host Microbe 2009 Apr;5(4):386-96

Institut Pasteur, Unité de Biologie et Génétique du Paludisme, 28 rue du Dr Roux, Paris cedex 15, Paris 75724, France.

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http://dx.doi.org/10.1016/j.chom.2009.03.008DOI Listing
April 2009

Serial Analysis of Gene Expression in Plasmodium berghei salivary gland sporozoites.

BMC Genomics 2007 Dec 19;8:466. Epub 2007 Dec 19.

Biochimie et Biologie Moléculaire des Insectes, Institut Pasteur, 28 rue du Dr Roux, 75724, Paris cedex 15, France.

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http://dx.doi.org/10.1186/1471-2164-8-466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2263065PMC
December 2007

N-myristoylation regulates the SnRK1 pathway in Arabidopsis.

Plant Cell 2007 Sep 7;19(9):2804-21. Epub 2007 Sep 7.

Protein Maturation and Cell Fate, Institut des Sciences du Végétal, Unité Propre de Recherche 2355, Centre National de la Recherche Scientifique, F-91198, Gif-sur-Yvette Cedex, France.

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http://dx.doi.org/10.1105/tpc.107.051870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2048702PMC
September 2007

Gene silencing in mosquito salivary glands by RNAi.

FEBS Lett 2006 Apr 6;580(8):1988-92. Epub 2006 Mar 6.

Unité de Biologie et Génétique du Paludisme, Institut Pasteur, 28 Rue du Dr Roux 75724 Paris Cedex, France.

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http://dx.doi.org/10.1016/j.febslet.2006.02.069DOI Listing
April 2006

A continuous assay of myristoyl-CoA:protein N-myristoyltransferase for proteomic analysis.

Anal Biochem 2003 Nov;322(1):116-23

Protein Maturation, ISV, UPR2355, Centre National de la Recherche Scientifique, Bâtiment 23, 1 avenue de la Terrasse, F-91198 Gif-sur-Yvette, France.

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November 2003

Unexpected protein families including cell defense components feature in the N-myristoylome of a higher eukaryote.

J Biol Chem 2003 Oct 11;278(44):43418-29. Epub 2003 Aug 11.

Protein Maturation Group, Institut des Sciences du Végétal, UPR2355, Centre National de la Recherche Scientifique, Bâtiment 23, 1 avenue de la Terrasse, F-91198 Gif-sur-Yvette cedex, France.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M307321200
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http://dx.doi.org/10.1074/jbc.M307321200DOI Listing
October 2003