Publications by authors named "Matthieu Bouaziz"

15Publications

A genome-wide case-only test for the detection of digenic inheritance in human exomes.

Authors:
Gaspard Kerner Matthieu Bouaziz Aurélie Cobat Benedetta Bigio Andrew T Timberlake Jacinta Bustamante Richard P Lifton Jean-Laurent Casanova Laurent Abel

Proc Natl Acad Sci U S A 2020 08 27;117(32):19367-19375. Epub 2020 Jul 27.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France;

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August 2020

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

Authors:
Stéphanie Boisson-Dupuis Noe Ramirez-Alejo Zhi Li Etienne Patin Geetha Rao Gaspard Kerner Che Kang Lim Dimitry N Krementsov Nicholas Hernandez Cindy S Ma Qian Zhang Janet Markle Ruben Martinez-Barricarte Kathryn Payne Robert Fisch Caroline Deswarte Joshua Halpern Matthieu Bouaziz Jeanette Mulwa Durga Sivanesan Tomi Lazarov Rodrigo Naves Patricia Garcia Yuval Itan Bertrand Boisson Alix Checchi Fabienne Jabot-Hanin Aurélie Cobat Andrea Guennoun Carolyn C Jackson Sevgi Pekcan Zafer Caliskaner Jaime Inostroza Beatriz Tavares Costa-Carvalho Jose Antonio Tavares de Albuquerque Humberto Garcia-Ortiz Lorena Orozco Tayfun Ozcelik Ahmed Abid Ismail Abderahmani Rhorfi Hicham Souhi Hicham Naji Amrani Adil Zegmout Frédéric Geissmann Stephen W Michnick Ingrid Muller-Fleckenstein Bernhard Fleckenstein Anne Puel Michael J Ciancanelli Nico Marr Hassan Abolhassani María Elvira Balcells Antonio Condino-Neto Alexis Strickler Katia Abarca Cory Teuscher Hans D Ochs Ismail Reisli Esra H Sayar Jamila El-Baghdadi Jacinta Bustamante Lennart Hammarström Stuart G Tangye Sandra Pellegrini Lluis Quintana-Murci Laurent Abel Jean-Laurent Casanova

Sci Immunol 2018 12;3(30)

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

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December 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons.

Authors:
Alexandre Bolze Bertrand Boisson Barbara Bosch Alexander Antipenko Matthieu Bouaziz Paul Sackstein Malik Chaker-Margot Vincent Barlogis Tracy Briggs Elena Colino Aurora C Elmore Alain Fischer Ferah Genel Angela Hewlett Maher Jedidi Jadranka Kelecic Renate Krüger Cheng-Lung Ku Dinakantha Kumararatne Alain Lefevre-Utile Sam Loughlin Nizar Mahlaoui Susanne Markus Juan-Miguel Garcia Mathilde Nizon Matias Oleastro Malgorzata Pac Capucine Picard Andrew J Pollard Carlos Rodriguez-Gallego Caroline Thomas Horst Von Bernuth Austen Worth Isabelle Meyts Maurizio Risolino Licia Selleri Anne Puel Sebastian Klinge Laurent Abel Jean-Laurent Casanova

Proc Natl Acad Sci U S A 2018 08 2;115(34):E8007-E8016. Epub 2018 Aug 2.

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

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August 2018

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

Authors:
Sarah Jill de Jong Amandine Créquer Irina Matos David Hum Vignesh Gunasekharan Lazaro Lorenzo Fabienne Jabot-Hanin Elias Imahorn Andres A Arias Hassan Vahidnezhad Leila Youssefian Janet G Markle Etienne Patin Aurelia D'Amico Claire Q F Wang Florian Full Armin Ensser Tina M Leisner Leslie V Parise Matthieu Bouaziz Nataly Portilla Maya Xavier Rueda Cadena Bayaki Saka Amir Hossein Saeidian Nessa Aghazadeh Sirous Zeinali Peter Itin James G Krueger Lou Laimins Laurent Abel Elaine Fuchs Jouni Uitto Jose Luis Franco Bettina Burger Gérard Orth Emmanuelle Jouanguy Jean-Laurent Casanova

J Exp Med 2018 09 1;215(9):2289-2310. Epub 2018 Aug 1.

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

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September 2018

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Authors:
Annemarie van de Geer Alejandro Nieto-Patlán Douglas B Kuhns Anton Tj Tool Andrés A Arias Matthieu Bouaziz Martin de Boer José Luis Franco Roel P Gazendam John L van Hamme Michel van Houdt Karin van Leeuwen Paul Jh Verkuijlen Timo K van den Berg Juan F Alzate Carlos A Arango-Franco Vritika Batura Andrea R Bernasconi Barbara Boardman Claire Booth Siobhan O Burns Felipe Cabarcas Nadine Cerf Bensussan Fabienne Charbit-Henrion Anniek Corveleyn Caroline Deswarte María Esnaola Azcoiti Dirk Foell John I Gallin Carlos Garcés Margarida Guedes Claas H Hinze Steven M Holland Stephen M Hughes Patricio Ibañez Harry L Malech Isabelle Meyts Marcela Moncada-Velez Kunihiko Moriya Esmeralda Neves Matias Oleastro Laura Perez Vimel Rattina Carmen Oleaga-Quintas Neil Warner Aleixo M Muise Jeanet Serafín López Eunice Trindade Julia Vasconcelos Séverine Vermeire Helmut Wittkowski Austen Worth Laurent Abel Mary C Dinauer Peter D Arkwright Dirk Roos Jean-Laurent Casanova Taco W Kuijpers Jacinta Bustamante

J Clin Invest 2018 08 6;128(9):3957-3975. Epub 2018 Aug 6.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

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August 2018

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Authors:
Vivien Béziat Juan Li Jian-Xin Lin Cindy S Ma Peng Li Aziz Bousfiha Isabelle Pellier Samaneh Zoghi Safa Baris Sevgi Keles Paul Gray Ning Du Yi Wang Yoann Zerbib Romain Lévy Thibaut Leclercq Frédégonde About Ai Ing Lim Geetha Rao Kathryn Payne Simon J Pelham Danielle T Avery Elissa K Deenick Bethany Pillay Janet Chou Romain Guery Aziz Belkadi Antoine Guérin Mélanie Migaud Vimel Rattina Fatima Ailal Ibtihal Benhsaien Matthieu Bouaziz Tanwir Habib Damien Chaussabel Nico Marr Jamel El-Benna Bodo Grimbacher Orli Wargon Jacinta Bustamante Bertrand Boisson Ingrid Müller-Fleckenstein Bernhard Fleckenstein Marie-Olivia Chandesris Matthias Titeux Sylvie Fraitag Marie-Alexandra Alyanakian Marianne Leruez-Ville Capucine Picard Isabelle Meyts James P Di Santo Alain Hovnanian Ayper Somer Ahmet Ozen Nima Rezaei Talal A Chatila Laurent Abel Warren J Leonard Stuart G Tangye Anne Puel Jean-Laurent Casanova

Sci Immunol 2018 06;3(24)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.

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June 2018

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Authors:
Abdulrahman N Alodayani Abdulnasir M Al-Otaibi Caroline Deswarte Husn Habib Frayha Matthieu Bouaziz Maryam AlHelale Tom Le Voyer Alejandro Nieto-Patlan Vimel Rattina Mofareh AlZahrani Rabih Halwani Fahad Al Sohime Hamoud Al-Mousa Saleh Al-Muhsen Sami H Alhajjar Nabil S Dhayhi Laurent Abel Jean-Laurent Casanova Ibrahim Bin-Hussain May S AlBarrak Suliman A Al-Jumaah Jacinta Bustamante

J Clin Immunol 2018 04 27;38(3):278-282. Epub 2018 Mar 27.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.

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April 2018

IRF4 haploinsufficiency in a family with Whipple's disease.

Authors:
Antoine Guérin Gaspard Kerner Nico Marr Janet G Markle Florence Fenollar Natalie Wong Sabri Boughorbel Danielle T Avery Cindy S Ma Salim Bougarn Matthieu Bouaziz Vivien Béziat Erika Della Mina Carmen Oleaga-Quintas Tomi Lazarov Lisa Worley Tina Nguyen Etienne Patin Caroline Deswarte Rubén Martinez-Barricarte Soraya Boucherit Xavier Ayral Sophie Edouard Stéphanie Boisson-Dupuis Vimel Rattina Benedetta Bigio Guillaume Vogt Frédéric Geissmann Lluis Quintana-Murci Damien Chaussabel Stuart G Tangye Didier Raoult Laurent Abel Jacinta Bustamante Jean-Laurent Casanova

Elife 2018 03 14;7. Epub 2018 Mar 14.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.

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March 2018

A candidate gene study identifies a haplotype of CD2 as novel susceptibility factor for systemic sclerosis.

Authors:
Eugenie Koumakis Matthieu Bouaziz Philippe Dieudé Anne Cauvet Barbara Ruiz Paolo Airò Daniele Cusi Marco Matucci-Cerinic Erika Salvi Giovanna Cuomo Eric Hachulla Elisabeth Diot Paola Caramaschi Valeria Riccieri Jerome Avouac Yannick Allanore

Clin Exp Rheumatol 2016 Sep-Oct;34 Suppl 100(5):43-48. Epub 2016 Jul 1.

INSERM, Institut Cochin, INSERM U1016, Sorbonne Paris Cité, and Paris Descartes University, Paris; and Paris Descartes University, Rheumatology A Department, Cochin Hospital, APHP, Paris, France.

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January 2017

A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis.

Authors:
Eugénie Koumakis Matthieu Bouaziz Philippe Dieudé Barbara Ruiz Gabriella Riemekasten Paolo Airo Martina Müller-Nurasyid Daniele Cusi Marco Matucci-Cerinic Inga Melchers Erika Salvi Konstantin Strauch Annette Peters Giovanna Cuomo Eric Hachulla Elisabeth Diot Nicolas Hunzelmann Paola Caramaschi Valeria Riccieri Jörg H W Distler Ingo Tarner Jérôme Avouac Luc Letenneur Philippe Amouyel Jean-Charles Lambert Gilles Chiocchia Catherine Boileau Yannick Allanore

Arthritis Rheum 2013 Dec;65(12):3202-8

INSERM, Institut Cochin, Cochin Hospital, AP-HP, INSERM U1016, Sorbonne Paris Cité, and Paris Descartes University, Paris, France.

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December 2013

SHIPS: Spectral Hierarchical clustering for the Inference of Population Structure in genetic studies.

Authors:
Matthieu Bouaziz Caroline Paccard Mickael Guedj Christophe Ambroise

PLoS One 2012 12;7(10):e45685. Epub 2012 Oct 12.

Department of Biostatistics, Pharnext, Paris, France.

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March 2013

TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.

Authors:
Eugénie Koumakis Julien Wipff Philippe Dieudé Barbara Ruiz Matthieu Bouaziz Lucile Revillod Mickaël Guedj Jörg H W Distler Marco Matucci-Cerinic Marc Humbert Gabriella Riemekasten Paolo Airo Inga Melchers Eric Hachulla Daniele Cusi H-Erich Wichmann Nicolas Hunzelmann Kiet Tiev Paola Caramaschi Elisabeth Diot Otylia Kowal-Bielecka Giovanna Cuomo Ulrich Walker László Czirják Nemanja Damjanov Sara Lupoli Costanza Conti Martina Müller-Nurasyid Ulf Müller-Ladner Valeria Riccieri Jean-Luc Cracowski Franco Cozzi Vasiliki Kalliopi Bournia P Vlachoyiannopoulos Gilles Chiocchia Catherine Boileau Yannick Allanore

Ann Rheum Dis 2012 Nov 15;71(11):1900-3. Epub 2012 Aug 15.

Paris Descartes University, INSERM U1016, Institut Cochin, Sorbonne Paris Cité, Paris, France.

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November 2012

Multiple testing in large-scale genetic studies.

Authors:
Matthieu Bouaziz Marine Jeanmougin Mickaël Guedj

Methods Mol Biol 2012 ;888:213-33

Department of Biostatistics, Pharnext, Paris, France.

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September 2012

Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.

Authors:
Baptiste Coustet Matthieu Bouaziz Philippe Dieudé Mickael Guedj Lara Bossini-Castillo Sandeep Agarwal Timothy Radstake Javier Martin Pravitt Gourh Muriel Elhai Eugénie Koumakis Jérôme Avouac Barbara Ruiz Maureen Mayes Frank Arnett Eric Hachulla Elisabeth Diot Jean-Luc Cracowski Kiet Tiev Jean Sibilia Luc Mouthon Camille Frances Zahir Amoura Patrick Carpentier Anne Cosnes Olivier Meyer André Kahan Catherine Boileau Gilles Chiocchia Yannick Allanore

J Rheumatol 2012 May 15;39(5):997-1003. Epub 2012 Mar 15.

Université Paris Descartes, Rhumatologie A, INSERM U1016, Hôpital Cochin, APHP, Paris, France.

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May 2012

Accounting for population stratification in practice: a comparison of the main strategies dedicated to genome-wide association studies.

Authors:
Matthieu Bouaziz Christophe Ambroise Mickael Guedj

PLoS One 2011 21;6(12):e28845. Epub 2011 Dec 21.

Department of Biostatistics, Pharnext, Paris, France.

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May 2012