2026

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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.

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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.

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2025

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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.

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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.

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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.

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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.

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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.

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Genome medicine. 2025;17(1):110. doi: 10.1186/s13073-025-01464-2. PMID: 41044778.

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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.

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2023

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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.

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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.

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2022

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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.

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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.

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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.

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2020

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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.

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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.

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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

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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.

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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.

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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.

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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.

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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

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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

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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

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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

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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

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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

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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P.

 

Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. PMID: 31985013