BIOINFORMATICS HUB
The Bioinformatics Hub of the Imagine Institute is integrated within the SFR Necker
and provides support to all teams across the Necker campus in the analysis, integration,
and interpretation of high-throughput data.
We contribute at every stage of research projects, from experimental design
and the development of analytical strategies to the biological interpretation and scientific valorization of results, including quality control, statistical analyses, and data visualization. Our team develops and implements robust, reproducible workflows tailored to the needs
of translational research and genomic medicine.
The mission of the Bioinformatics Hub is to structure and strengthen bioinformatics support across the campus by pooling expertise, infrastructure and methodology for the benefit
of all research teams.
The Hub also hosts and supervises project-funded bioinformaticians, providing them
with a structured technical, methodological and scientific environment. This model promotes professional development, ensures consistency in analytical approaches across projects, and facilitates the retention and dissemination of expertise throughout the campus.
OUR EXPERTISE
Omics technologies (including genomics, transcriptomics, single-cell and spatial transcriptomics) generate large and complex datasets whose analysis and interpretation require advanced expertise in bioinformatics, biostatistics and computational biology.
The Bioinformatics Hub has extensive expertise across all these domains and provides critical support to research projects, from experimental design through data analysis
and biological interpretation to the scientific dissemination of results. We develop rigorous analytical strategies tailored to the characteristics of the data and the biological or clinical questions being addressed.
GENOMICS
The Bioinformatics Hub has extensive expertise in the analysis of resequencing data across the full spectrum of next-generation sequencing (NGS) approaches, including targeted gene panels, whole-exome sequencing (WES) and whole-genome sequencing (WGS). We provide comprehensive support for variant detection and annotation, family-based analyses, candidate variant prioritization and cohort studies, including burden test approaches
for the identification of disease-associated genetic variation.
BULK TRANSCRIPTOMICS
We provide end-to-end support for bulk RNA-seq projects, from raw data quality control
to biological interpretation. Our expertise includes gene expression quantification, differential expression analysis, functional enrichment analysis, and network-based approaches, enabling the extraction of biologically meaningful insights from transcriptomic datasets.
SINGLE-CELL & SINGLE-NUCLEUS RNA-SEQ
We offer dedicated expertise in single-cell transcriptomics approaches (single-cell
and singlenucleus RNA-seq). We support teams throughout the entire project, from data preprocessing to biological interpretation, integrating the specific challenges of these technologies: multi-sample integration, batch effect correction, cell population annotation, and trajectory inference.
SPATIAL TRANSCRIPTOMICS
We develop analytical approaches for spatial transcriptomics to explore tissue organization and cell-cell interactions within their spatial context. Our expertise covers the main technologies in the field (Visium, Xenium, CosMx) and includes segmentation, histological integration, deconvolution, cell-cell interactions and neighborhood analysis, and mapping
of transcriptomic signatures.
MULTI-OMICS INTEGRATION AND BIOSTATISTICS
We provide end-to-end support for bulk RNA-seq projects, from raw data quality control to biological interpretation. Our expertise includes gene expression quantification, differential expression analysis, functional enrichment analysis, and network-based approaches, enabling the extraction of biologically meaningful insights from transcriptomic datasets.
COMPUTING INFRASTRUCTURE
To carry out its missions, the Bioinformatics Hub relies on a high-performance computing infrastructure established and funded by Institut Imagine, and maintained by its IT department (DSI, Jerome Flatot).
DEDICATED HUB INFRASTRUCTURE
HPC cluster
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8 nodes equipped with 128 cores and 1 TB of RAM
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16 nodes equipped with 40 cores and 512 GB of RAM
GPU application server
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128 cores, 1 TB of RAM, and 1 NVIDIA A100
GPU Dedicated application servers:
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2 servers each equipped with 40 cores and 512 GB of RAM
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DRAGEN system dedicated to genomic analyses
High-performance file system:
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50 TB Pure Storage FlashBlade array
The Hub also benefits from access to shared resources of the Institut Imagine, including
a DGX-type GPU server to meet growing needs in deep learning and artificial intelligence,
as well as a shared 12 PB Pure Storage infrastructure, ensuring data durability and security at the institute scale.
SCIENTIFIC OUTPUT AND VALORIZATION
The Bioinformatics Hub actively contributes to the scientific valorization of the projects
it supports, participating in the analysis, interpretation, and presentation of results
for scientific publications and communications. The team works closely with researchers, clinicians, and other technology platforms to develop analyses tailored to biological
and translational research questions. This collaborative approach fosters the emergence
of multidisciplinary projects, the development of new analytical methodologies,
and the production of robust and reproducible results.
STAFF
Patrick NITSCHKÉ
Head
Jean-Philippe JAIS
Scientific Director
Cécile MASSON
Head of Production
Emilia PUIG-LOMBARDI
Head of Multi-Omics Analytics
Marc BRAS
Nicolas CAGNARD
Francesco CARBONE
Nicolas DOLDI
Cécile FOURRAGE
Mohamed HAMICI
Sylvain HANEIN
Fabienne JABOT-HANIN
Emmanuelle OLLIVIER
Mélodie PERIN
Jean-Marc PLAZA
Lamine TOURÉ
Margot TRAGIN
PUBLICATIONS
2026
ADAR1 Loss-of-Function Variants Altering RNA Editing Define a New Interferon-Dependent Psoriasis Subtype.
Assan Florence, Tragin Margot, Marella Sahiti, Lipecka Joanna, Roger Kevin,
Zarhrate Mohammed, Bondet Vincent, Nguyen Vincent, Akroun Fadela, Nitschke Patrick, Guerrera Chiara, Bole-Feysot Christine, Izmiryan Araksya, Puig Lombardi Maria Emilia,
Fox Jennifer, Kirma Joseph, Zhang Haihan, Gu Yiqian, Bogle Rachael, Boniface Katia, Seneschal Julien, Seabra Luis, Lepelley Alice, Frémond Marie-Louise, Bondurand Nadège, Jouanguy Emmanuelle, Modlin Robert, Casanova JeanLaurent, Di Domizio Jeremy, Gilliet Michel, Sbidian Emilie, Battistella Maxime, Mahé Emmanuel, Guégan Sarah, Tsoi Lam, Richette Pascal, Claudepierre Pascal, Rigolet Arnaud, Giannesini Claire, Costanzo Antonio, Duffy Darragh, Rosenberg Brad, Sathishkumar Dharshini, Bourrat Emmanuelle,
Chang Chung Hsing, Hovnanian Alain, Gudjonsson Johann, Crow Yanick, Bachelez Hervé.
J Exp Med. 2026. doi: 10.1084/jem.20260054.
No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.
Marchais Manon, Pennisi Alessandra, Pierga Alexandre, Lepelley Alice, Cagnard Nicolas, Bole Christine, Nitschke Patrick, Hamici Mohamed, Rieux-Laucat Frédéric, Schiff Manuel, Munnich Arnold, Rötig Agnès.
European journal of immunology. 2026;56(4):e70176. doi: 10.1126/sciadv.adx7672. PMID: 41891263.
2025
Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.
Alioua Najiba, Lambert Nathalie, Puel Mathilde, Hanein Sylvain, Bastard Paul,
Fusaro Mathieu, Jaffray Marie, Medel Bernardita, Khellaf Lydia, Seeleuthner Yoann,
Perin Mélodie, Jacques Corinne, Pasquet Marlène, Olivier Laura, Sepulveda Fernando,
Le Voyer Tom, Cobat Aurélie, Nitschké Patrick, Galicier Lionel, Schleinitz Nicolas, Oksenhendler Eric, Malphettes Marion, Neven Bénédicte, Moshous Despina, Suarez Felipe, Fieschi Claire, Casanova Jean-Laurent, de Saint Basile Geneviève, Dorval Guillaume,
Picard Capucine, Bustamante Jacinta, Zhang Peng, Rosain Jérémie.
Journal of human immunity. 2025;1(3):e20250041. doi: 10.1126/science.286.5446.1957. PMID: 41394892.
Cytosolic proliferating cell nuclear antigen (PCNA) orchestrates neutrophil hyperactivation in COVID-19.
Formiga Rodrigo de Oliveira, Pesenti Lucie, de la Héronnière François Chable,
Ladjemi Maha Zohra, Stojkov Darko, Yousefi Shida, Frachet Philippe, Krafft Lisa,
Tiberio Laura, Bosisio Daniela, Andrieu Muriel, Many Souganya, Karunanithy Vaarany,
Bailly Karine, Dhôte Théo, Saraceni-Tasso Giovanni, Castel Manon, Rousseau Christophe, Starick Marick Rodrigues, da Rocha Edroaldo Lummertz, Puig Lombardi Emilia,
Almeida Cicero José Luíz Dos Ramos, Ramos Anderson Dos Santos,
Cunha Fernando Queiroz, Alves-Filho José Carlos, Nóbrega Natália Ribeiro Cabacinha, Gonçalves Matheus Rodrigues, Queiroz-Junior Celso Martins, Lima Batista Viviane,
Teixeira Mauro Martins, Granger Vanessa, Chollet-Martin Sylvie, Chaisemartin Luc De, Mouthon Luc, Hosmalin Anne, Hurtado-Nedelec Margarita, Martin Clémence,
Spiller Fernando, Simon Hans-Uwe, Tamassia Nicolas, Cassatella Marco Antonio,
Pène Frédéric, Vogl Thomas, Burgel Pierre-Regis, Costa Vivian Vasconcelos,
Witko-Sarsat Véronique.
Proceedings of the National Academy of Sciences of the United States of America. 2025;122(43):e2503667122. doi: 10.1073/pnas.2503667122. PMID: 41118208.
FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia.
Morice Anne, de La Seiglière Amélie, Kany Alexia, Khonsari Roman H, Bensidhoum Morad, Puig Lombardi Emilia, Legeai Mallet Laurence.
Bone research. 2025;13(1):12. doi: 10.1073/pnas.0506580102. PMID: 39837840.
Kinesin-1 coordinates cross-talk between microtubule and actin cytoskeletons during dendritic cell migration.
Duquesne Pierre, Aoun Céline, Kurowska Mathieu, Perot Brieuc P, Zhang Kerui,
Debili Mounia, Weimershaus Mirjana, Mauvais François-Xavier, Cagnard Nicolas,
Goudin Nicolas, Medel Bernardita, Montero-Hermández Juan Eduardo, Diedhiou Linda, Huang Jian-Dong, Fischer Alain, de Saint Basile Geneviève, Ménager Mickaël M,
Vargas Pablo, Sepulveda Fernando E, Ménasché Gaël.
Science advances. 2025;11(42):eadx7672. doi: 10.1126/sciadv.adx7672. PMID: 41105759.
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh Salima, Heide Solveig, Quélin Chloé, Rio Marlène, Margot Henri,
Geneviève David, Isidor Bertrand, Goldenberg Alice, Guégan Caroline, Lesca Gaëtan, Willems Marjolaine, Ormières Clothilde, Caumes Roseline, Busa Tiffany,
Bonneau Dominique, Guerrot Anne-Marie, Marey Isabelle, Vera Gabriella, Marzin Pauline, Philippe Anaïs, Garde Aurore, Coubes Christine, Vincent Marie, Michaud Vincent,
Mignot Cyril, Charles Perrine, Sigaudy Sabine, Edery Patrick, Lacombe Didier, Boland Anne, Nowak Frédérique, Bouctot Marion, Humbert-Asensio Marie-Laure, Simon Alban,
Chennen Kirsley, Sabour Niki, Delmas Christelle, Nicolas Gaël, Saugier-Veber Pascale, Lecoquierre François, Cassinari Kévin, Keren Boris, Courtin Thomas, De Sainte Agathe
Jean-Madeleine, Malan Valérie, Barcia Giulia, Tran Mau-Them Frédéric, Safraou Hana, Philippe Christophe, Thévenon Julien, Chatron Nicolas, Januel Louis, Piton Amélie, Haushalter Virginie, Gérard Bénédicte, Lejeune Catherine, Faivre Laurence,
Sanlaville Damien, Héron Delphine, Odent Sylvie, Nitschké Patrick, Schluth-Bolard Caroline, Lyonnet Stanislas, Deleuze Jean-François, Binquet Christine, Dollfus Hélène.
Genome medicine. 2025;17(1):110. doi: 10.1186/s13073-025-01464-2. PMID: 41044778.
Metallophilic marginal zone macrophages cross-prime CD8+ T cell-mediated protective immunity against blood-borne tumors.
Mauvais François-Xavier, Hamel Yamina, Silvin Aymeric, Mulder Kevin, Hildner Kai,
Akyol Ramazan, Dalod Marc, Koumantou Despoina, Saveanu Loredana, Garfa Meriem, Cagnard Nicolas, Bertocci Barbara, Ginhoux Florent, van Endert Peter.
Immunity. 2025;58(4):843- 860.e20. doi: 10.1016/j.immuni.2025.02.027. PMID: 40139188.
2023
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon Romane, Chentout Loïc, Moreno-Corona Nidia, Poggi Lucie, Puig Lombardi Emilia, Hoareau Benedicte, Schmitt Yohann, Lagresle-Peyrou Chantal, Bustamante Jacinta,
André Isabelle, Cavazzana Marina, Durandy Anne, Casanova Jean-Laurent, Galicier Lionel, Fadlallah Jehane, Fischer Alain, Kracker Sven.
The Journal of experimental medicine. 2023;220(6). doi: 10.1186/gb2008-9-9-r137. PMID: 36917008.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Fornes Oriol, Jia Alicia, Kuehn Hye Sun, Min Qing, Pannicke Ulrich, Schleussner Nikolai, Thouenon Romane, Yu Zhijia, de Los Angeles Astbury María, Biggs Catherine M,
Galicchio Miguel, Garcia-Campos Jorge Alberto, Gismondi Silvina, Gonzalez Villarreal Guadalupe, Hildebrand Kyla J, Hönig Manfred, Hou Jia, Moshous Despina, Pittaluga Stefania, Qian Xiaowen, Rozmus Jacob, Schulz Ansgar S, Staines-Boone Aidé Tamara,
Sun Bijun, Sun Jinqiao, Uwe Schauer, Venegas-Montoya Edna, Wang Wenjie, Wang Xiaochuan, Ying Wenjing, Zhai Xiaowen, Zhou Qinhua, Akalin Altuna, André Isabelle,
Barth Thomas F E, Baumann Bernd, Brüstle Anne, Burgio Gaetan, Bustamante Jacinta C, Casanova Jean-Laurent, Casarotto Marco G, Cavazzana Marina, Chentout Loïc, Cockburn Ian A, Costanza Mariantonia, Cui Chaoqun, Daumke Oliver, Del Bel Kate L, Eibel Hermann, Feng Xiaoqian, Franke Vedran, Gebhardt J Christof M, Götz Andrea, Grunwald Stephan, Hoareau Bénédicte, Hughes Timothy R, Jacobsen Eva-Maria, Janz Martin, Jolma Arttu, Lagresle-Peyrou Chantal, Lai Nannan, Li Yaxuan, Lin Susan, Lu Henry Y, LugoReyes Saul O, Meng Xin, Möller Peter, Moreno-Corona Nidia, Niemela Julie E, Novakovsky Gherman, Perez-Caraballo Jareb J, Picard Capucine, Poggi Lucie, Puig Lombardi Maria Emilia, Randall Katrina L, Reisser Anja, Schmitt Yohann, Seneviratne Sandali, Sharma Mehul, Stoddard Jennifer, Sundararaj Srinivasan, Sutton Harry, Tran Linh Q, Wang Ying, Wasserman Wyeth W, Wen Zichao, Winkler Wiebke, Xiong Ermeng, Yang Ally W H, Yu Meiping, Zhang Lumin, Zhang Hai, Zhao Qian, Zhen Xin, Enders Anselm, Kracker Sven, Martinez-Barricarte Ruben, Mathas Stephan, Rosenzweig Sergio D, Schwarz Klaus, Turvey Stuart E, Wang Ji-Yang
Science immunology. 2023;8(79):eade7953. doi: 10.1101/2022.05.20.492818. PMID: 36662884.
2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen Marion, Altin Nami, Rajamani Karthyayani, Pereira Eva, Siquier-Pernet Karine,
Puig Lombardi Emilia, Moreno Nadjeda, Barcia Giulia, Yvert Marianne, Laquerrière Annie, Pouliet Aurore, Nitschké Patrick, Boddaert Nathalie, Rausell Antonio, Razavi Féréchté, Afenjar Alexandra, Billette de Villemeur Thierry, Al-Maawali Almundher, Al-Thihli Khalid, Baptista Julia, Beleza-Meireles Ana, Garel Catherine, Legendre Marine, Gelot Antoinette, Burglen Lydie, Moutton Sébastien, Cantagrel Vincent.
American journal of human genetics. 2022;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. PMID: 35390279.
Prostate luminal progenitor cells: from mouse to human, from health to disease.
Baures Manon, Dariane Charles, Tika Elisavet, Puig Lombardi Emilia,
Barry Delongchamps Nicolas, Blanpain Cedric, Guidotti Jacques-Emmanuel, Goffin Vincent.
Nature reviews. Urology. 2022;19(4):201-218. doi: 10.5281/zenodo.3687064. PMID: 35079142.
Transcriptomic Signature and Growth Factor Regulation of Castration-Tolerant Prostate Luminal Progenitor Cells.
Baures Manon, Puig Lombardi Emilia, Di Martino Delphine, Zeitouni Wail, Pacreau Emeline, Dos Santos Leïla, Dariane Charles, Boutillon Florence, Guidotti Jacques-Emmanuel,
Goffin Vincent
Cancers. 2022;14(15). doi: 10.1111/bju.15227. PMID: 35954439.
2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Qian, Bastard Paul, Liu Zhiyong, Le Pen Jérémie, Moncada-Velez Marcela, Chen Jie, Ogishi Masato, Sabli Ira K D, Hodeib Stephanie, Korol Cecilia, Rosain Jérémie, Bilguvar Kaya, Ye Junqiang, Bolze Alexandre, Bigio Benedetta, Yang Rui, Arias Andrés Augusto, Zhou Qinhua, Zhang Yu, Onodi Fanny, Korniotis Sarantis, Karpf Léa, Philippot Quentin, Chbihi Marwa, Bonnet-Madin Lucie, Dorgham Karim, Smith Nikaïa, Schneider William M, Razooky Brandon S, Hoffmann Hans-Heinrich, Michailidis Eleftherios, Moens Leen, Han Ji Eun, Lorenzo Lazaro, Bizien Lucy, Meade Philip, Neehus Anna-Lena, Ugurbil Aileen Camille, Corneau Aurélien, Kerner Gaspard, Zhang Peng, Rapaport Franck, Seeleuthner Yoann, Manry Jeremy, Masson Cecile, Schmitt Yohann, Schlüter Agatha, Le Voyer Tom, Khan Taushif, Li Juan, Fellay Jacques, Roussel Lucie, Shahrooei Mohammad, Alosaimi Mohammed F, Mansouri Davood, Al-Saud Haya, Al-Mulla Fahd, Almourfi Feras, Al-Muhsen Saleh Zaid, Alsohime Fahad, Al Turki Saeed, Hasanato Rana, van de Beek Diederik, Biondi Andrea, Bettini Laura Rachele, D'Angio' Mariella, Bonfanti Paolo, Imberti Luisa, Sottini Alessandra, Paghera Simone, Quiros-Roldan Eugenia, Rossi Camillo, Oler Andrew J, Tompkins Miranda F, Alba Camille, Vandernoot Isabelle, Goffard Jean-Christophe, Smits Guillaume, Migeotte Isabelle, Haerynck Filomeen, Soler-Palacin Pere, Martin-Nalda Andrea, Colobran Roger, Morange Pierre-Emmanuel, Keles Sevgi, Çölkesen Fatma, Ozcelik Tayfun, Yasar Kadriye Kart, Senoglu Sevtap, Karabela Şemsi Nur, Rodríguez-Gallego Carlos, Novelli Giuseppe, Hraiech Sami, TandjaouiLambiotte Yacine, Duval Xavier, Laouénan Cédric, Snow Andrew L, Dalgard Clifton L, Milner Joshua D, Vinh Donald C, Mogensen Trine H, Marr Nico, Spaan András N, Boisson Bertrand, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Puel Anne, Ciancanelli Michael J, Meyts Isabelle, Maniatis Tom, Soumelis Vassili, Amara Ali, Nussenzweig Michel, García-Sastre Adolfo, Krammer Florian, Pujol Aurora, Duffy Darragh, Lifton Richard P, Zhang Shen-Ying, Gorochov Guy, Béziat Vivien, Jouanguy Emmanuelle, Sancho-Shimizu Vanessa, Rice Charles M, Abel Laurent, Notarangelo Luigi D, Cobat Aurélie, Su Helen C, Casanova Jean-Laurent.
Science (New York, N.Y.). 2020;370(6515). doi: 10.1128/mBio.03243-19. PMID: 32972995.
Tumor invasion in draining lymph nodes is associated with Treg accumulation in breast cancer patients.
Núñez Nicolas Gonzalo, Tosello Boari Jimena, Ramos Rodrigo Nalio, Richer Wilfrid,
Cagnard Nicolas, Anderfuhren Cyrill Dimitri, Niborski Leticia Laura, Bigot Jeremy,
Meseure Didier, De La Rochere Philippe, Milder Maud, Viel Sophie, Loirat Delphine,
Pérol Louis, Vincent-Salomon Anne, Sastre-Garau Xavier, Burkhard Becher, Sedlik Christine, Lantz Olivier, Amigorena Sebastian, Piaggio Eliane.
Nature communications. 2020;11(1):3272. doi: 10.1038/s41467-020-17046-2. PMID: 32601304.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, EbetsbergerDachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F.
Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. PMID: 33087723
Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs.
Six Emmanuelle, Guilloux Agathe, Denis Adeline, Lecoules Arnaud, Magnani Alessandra, Vilette Romain, Male Frances, Cagnard Nicolas, Delville Marianne, Magrin Elisa, Caccavelli Laure, Roudaut Cécile, Plantier Clemence, Sobrino Steicy, Gregg John, Nobles Christopher L, Everett John K, Hacein-Bey-Abina Salima, Galy Anne, Fischer Alain, Thrasher Adrian J, André Isabelle, Cavazzana Marina, Bushman Frederic D.
Blood. 2020;135(15):1219-1231. doi: 10.1182/blood.2019002350. PMID: 32040546.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin Mathilda, Boyer Olivia, Servais Aude, Li Yong, Villoing-Gaudé Laure,
Tête Marie-Josephe, Cambier Alexandra, Hogan Julien, Baudouin Veronique, Krid Saoussen, Bensman Albert, Lammens Florie, Louillet Ferielle, Ranchin Bruno, Vigneau Cecile,
Bouteau Iseline, Isnard-Bagnis Corinne, Mache Christoph J, Schäfer Tobias, Pape Lars, Gödel Markus, Huber Tobias B, Benz Marcus, Klaus Günter, Hansen Matthias, Latta Kay, Gribouval Olivier, Morinière Vincent, Tournant Carole, Grohmann Maik, Kuhn Elisa,
Wagner Timo, Bole-Feysot Christine, Jabot-Hanin Fabienne, Nitschké Patrick,
Ahluwalia Tarunveer S, Köttgen Anna, Andersen Christian Brix Folsted, Bergmann Carsten, Antignac Corinne, Simons Matias.
The Journal of clinical investigation. 2020;130(1):335-344. doi: 10.1038/s41467-019- 11576-0. PMID: 31613795.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M,
Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M,
Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G,
De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P,Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C.
Allergy Clin Immunol. 2020 Jun 10:S0091-6749(20)30816-2.
Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa. Low Prevalence of GSC.
Duchatelet S, Miskinyte S, Delage M, Ungeheuer MN, Lam T, Benhadou F, Del Marmol V, Vossen ARJV, Prens EP, Cogrel O, Beylot-Barry M, Girard C, Vidil J, Join-Lambert O,
Parisot M, Nitschké P, Hanein S, Fraitag S, Van der Zee HH, Bessis D, Damiani G,
Altomare A, Liao YH, Nikolakis G, Zouboulis CC, Nassif A, Hovnanian A.
J Invest Dermatol. 2020 Oct;140(10):2085-2088.e14.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L,
Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS,
Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y.
Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. PMID: 32947049
Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.
Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C,
De Cian A, Chalumeau A, Mavilio F, Amendola M, AndreSchmutz I, Cereseto A, El Nemer W, Concordet JP, Giovannangeli C, Cavazzana M, Miccio A.
Sci Adv. 2020 Feb 12;6(7):eaay9392. doi: 10.1126/sciadv.aay9392. PMID: 32917636
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years. Fadlallah J, Chentout L, Boisson B, Pouliet A, Masson C, Morin F, Durandy A, Casanova JL, Oksenhendler E, Kracker S.
J Pediatr. 2020 Aug;223:207-211.e1. doi: 10.1016/j.jpeds.2020.03.024. PMID: 32423680
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients with Congenital Hypothyroidism Due to Dyshormonogenesis.
Athanasia STOUPA, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cecile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore CARRE.
Frontiers in Endocrinology, section Thyroid Endocrinology | doi: 10.3389/fendo.2020.545339
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism. Wirth T, Mariani LL, Bergant G, Baulac M, Habert MO, Drouot N, Ollivier E, Hodžić A,
Rudolf G, Nitschke P, Rudolf G, Chelly J, Tranchant C, Anheim M, Roze E.
Mov Disord. 2020 May;35(5):880-885. doi: 10.1002/mds.27982. Epub 2020 Jan 10. PMID: 31922365
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J.
Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. PMID: 32334381
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
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