Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations von Duchatelet, S., Guibbal, L., de Veer, S., Fraitag, S., Nitschké, P., Zarhrate, M., Bodemer, C., Hovnanian, A.

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L’haploinsuffisance en SHARPIN est responsable d’un déficit partiel en LUBAC, de manifestations inflammatoires, d’une auto-immunité et d’un défaut de production d’anticorps... von Sorin, B., Stolzenberg, M.C., Thys, A., Hadjadj, J., Barnabei, L., Pellé, O., Marchais, M., Gagnard, N., Zarhrate, M., Corneau, A., Fabrega, S., Yatim, N., Corvilain, E., Malphettes, M., Lafaurie-Bergeron, A., Brunet, E., Rieux-Laucat, F., Fischer, A.

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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus von Maystadt, I., Zarhrate, M., Landrieu, P., Boespflug-Tanguy, O., Sukno, S., Collignon, P., Melki, J., Verellen-Dumoulin, C., Munnich, A., Viollet, L.

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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36 von Maystadt, I, Zarhrate, M, Leclair-Richard, D, Estournet, B, Barois, A, Renault, F, Routon, M-C, Durand, M-C, Lefebvre, S, Munnich, A, Verellen-Dumoulin, C, Viollet, L

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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 von Viollet, Louis, Barois, Annie, Rebeiz, Jean G., Rifai, Ziad, Burlet, Philippe, Zarhrate, Mohammed, Vial, Elodie, Dessainte, Michel, Estournet, Brigitte, Kleinknecht, Bernard, Pearn, John, Adams, Raymond D., Urtizberea, Jon A., Cros, Didier P., Bushby, Kate, Munnich, Arnold, Lefebvre, Suzie

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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to lp36 von MAYSTADT, I, ZARHRATE, M, VERELLEN-DUMOULIN, C, VIOLLET, L, LECLAIR-RICHARD, D, ESTOURNET, B, BAROIS, A, RENAULT, F, ROUTON, M.-C, DURAND, M.-C, LEFEBVRE, S, MUNNICH, A

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Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families von Viollet, Louis, Zarhrate, Mohammed, Maystadt, Isabelle, Estournet-Mathiaut, Brigitte, Barois, Annie, Desguerre, Isabelle, Mayer, Michèle, Chabrol, Brigitte, LeHeup, Bruno, Cusin, Veronica, Billette de Villemeur, Thierry, Bonneau, Dominique, Saugier-Veber, Pascale, Touzery-de Villepin, Anne, Delaubier, Anne, Kaplan, Jocelyne, Jeanpierre, Marc, Feingold, Joshué, Munnich, Arnold

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Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations von Duchatelet, S, Guibbal, L, de Veer, S, Fraitag, S, Nitschké, P, Zarhrate, M, Bodemer, C, Hovnanian, A

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Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis von Parlato, Marianna, Charbit‐Henrion, Fabienne, Pan, Jie, Romano, Claudio, Duclaux‐Loras, Rémi, Le Du, Marie‐Helene, Warner, Neil, Francalanci, Paola, Bruneau, Julie, Bras, Marc, Zarhrate, Mohammed, Bègue, Bernadette, Guegan, Nicolas, Rakotobe, Sabine, Kapel, Nathalie, De Angelis, Paola, Griffiths, Anne M, Fiedler, Karoline, Crowley, Eileen, Ruemmele, Frank, Muise, Aleixo M, Cerf‐Bensussan, Nadine

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Hypogonadism as a Reversible Cause of Torsades de Pointes in Men von Salem, Joe-Elie, Waintraub, Xavier, Courtillot, Carine, Shaffer, Christian M, Gandjbakhch, Estelle, Maupain, Carole, Moslehi, Javid J, Badilini, Fabio, Haroche, Julien, Gougis, Paul, Fressart, Veronique, Glazer, Andrew M, Hidden-Lucet, Francoise, Touraine, Philippe, Lebrun-Vignes, Benedicte, Roden, Dan M, Bachelot, Anne, Funck-Brentano, Christian, Bretagne, Marie, Dureau, Pauline, Saqué, Valentin, Zarhrate-Ghoul, Aida, Bourguignon, Clément, Leban, Monique, Grouthier, Virginie, Vaglio, Martino

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PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis von Yamaguchi, Junna, Isnard, Pierre, Robil, Noémie, de la Grange, Pierre, Hoguin, Clément, Schmitt, Alain, Hummel, Aurélie, Megret, Jérôme, Goudin, Nicolas, Luka, Marine, Ménager, Mickaël M, Masson, Cécile, Zarhrate, Mohammed, Bôle-Feysot, Christine, Janiszewska, Michalina, Polyak, Kornelia, Dairou, Julien, Baldassari, Sara, Baulac, Stéphanie, Broissand, Christine, Legendre, Christophe, Terzi, Fabiola, Canaud, Guillaume

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MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression von Hashimoto, Satoru, Boissel, Sarah, Zarhrate, Mohammed, Rio, Marlène, Munnich, Arnold, Egly, Jean-Marc, Colleaux, Laurence

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Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood von Sarzi, Emmanuelle, Bourdon, Alice, Chrétien, Dominique, PhD, Zarhrate, Mohamed, Corcos, Johanna, Slama, Abdelhamid, MD, Cormier-Daire, Valérie, MD, PhD, de Lonlay, Pascale, MD, PhD, Munnich, Arnold, MD, PhD, Rötig, Agnès, PhD

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling von Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation von Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity von Boussard, Charlotte, Delage, Laure, Gajardo, Tania, Kauskot, Alexandre, Batignes, Maxime, Goudin, Nicolas, Stolzenberg, Marie-Claude, Brunaud, Camille, Panikulam, Patricia, Riller, Quentin, Moya-Nilges, Maryse, Solarz, Jean, Repérant, Christelle, Durel, Béatrice, Bordet, Jean-Claude, Pellé, Olivier, Lebreton, Corinne, Magérus, Aude, Pirabakaran, Vithura, Vargas, Pablo, Dupichaud, Sébastien, Jeanpierre, Marie, Vinit, Angélique, Zarhrate, Mohammed, Masson, Cécile, Aladjidi, Nathalie, Arkwright, Peter D., Bader-Meunier, Brigitte, Baron Joly, Sandrine, Benadiba, Joy, Bernard, Elise, Berrebi, Dominique, Bodemer, Christine, Castelle, Martin, Charbit-Henrion, Fabienne, Chbihi, Marwa, Debray, Agathe, Drabent, Philippe, Fraitag, Sylvie, Hié, Miguel, Landman-Parker, Judith, Lhermitte, Ludovic, Moshous, Despina, Rohrlich, Pierre, Ruemmele, Frank, Welfringer-Morin, Anne, Tusseau, Maud, Belot, Alexandre, Cerf-Bensussan, Nadine, Roelens, Marie, Picard, Capucine, Neven, Bénédicte, Fischer, Alain, Callebaut, Isabelle, Ménager, Mickaël, Sepulveda, Fernando E., Adam, Frédéric, Rieux-Laucat, Frédéric

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A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis von de Cevins, Camille, Luka, Marine, Smith, Nikaïa, Meynier, Sonia, Magérus, Aude, Carbone, Francesco, García-Paredes, Víctor, Barnabei, Laura, Batignes, Maxime, Boullé, Alexandre, Stolzenberg, Marie-Claude, Pérot, Brieuc P., Charbit, Bruno, Fali, Tinhinane, Pirabakaran, Vithura, Sorin, Boris, Riller, Quentin, Abdessalem, Ghaith, Beretta, Maxime, Grzelak, Ludivine, Goncalves, Pedro, Di Santo, James P., Mouquet, Hugo, Schwartz, Olivier, Zarhrate, Mohammed, Parisot, Mélanie, Bole-Feysot, Christine, Masson, Cécile, Cagnard, Nicolas, Corneau, Aurélien, Brunaud, Camille, Zhang, Shen-Ying, Casanova, Jean-Laurent, Bader-Meunier, Brigitte, Haroche, Julien, Melki, Isabelle, Lorrot, Mathie, Oualha, Mehdi, Moulin, Florence, Bonnet, Damien, Belhadjer, Zahra, Leruez, Marianne, Allali, Slimane, Gras-Leguen, Christèle, de Pontual, Loïc, Fischer, Alain, Duffy, Darragh, Rieux-Laucat, Fredéric, Toubiana, Julie, Ménager, Mickaël M.

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Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy von Beziat, Vivien, Rapaport, Franck, Hu, Jiafen, Titeux, Matthias, des Claustres, Mathilde Bonnet, Bourgey, Mathieu, Griffin, Heather, Bandet, Elise, Ma, Cindy S, Sherkat, Roya, Rokni-Zadeh, Hassan, Louis, David M, Changi-Ashtiani, Majid, Delmonte, Ottavia M, Fukushima, Toshiaki, Habib, Tanwir, Guennoun, Andrea, Khan, Taushif, Bender, Noemi, Rahman, Mahbuba, About, Fredegonde, Yang, Rui, Rao, Geetha, Rouzaud, Claire, Li, Jingwei, Shearer, Debra, Balogh, Karla, Al Ali, Fatima, Ata, Manar, Dabiri, Soroosh, Momenilandi, Mana, Nammour, Justine, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Guenat, David, Materna, Marie, Marcot, Lea, Vladikine, Natasha, Soret, Christine, Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Uitto, Jouni, Catherinot, Emilie, Navabi, Shadi Sadat, Zarhrate, Mohammed, Woodley, David T, Jeljeli, Mohamed, Abraham, Thomas, Belkaya, Serkan, Lorenzo, Lazaro, Rosain, Jeremie, Bayat, Mousa, Lanternier, Fanny, Lortholary, Olivier, Zakavi, Faramarz, Gros, Philippe, Orth, Gerard, Abel, Laurent, Pretet, Jean-Luc, Fraitag, Sylvie, Jouanguy, Emmanuelle, Davis, Mark M, Tangye, Stuart G, Notarangelo, Luigi D, Marr, Nico, Waterboer, Tim, Langlais, David, Doorbar, John, Hovnanian, Alain, Christensen, Neil, Bossuyt, Xavier, Shahrooei, Mohammad, Casanova, Jean-Laurent

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Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response von de Cevins, Camille, Delage, Laure, Batignes, Maxime, Riller, Quentin, Luka, Marine, Remaury, Anne, Sorin, Boris, Fali, Tinhinane, Masson, Cécile, Hoareau, Bénédicte, Meunier, Catherine, Parisot, Mélanie, Zarhrate, Mohammed, Pérot, Brieuc P, García-Paredes, Víctor, Carbone, Francesco, Galliot, Lou, Nal, Béatrice, Pierre, Philippe, Canard, Luc, Boussard, Charlotte, Crickx, Etienne, Guillemot, Jean-Claude, Bader-Meunier, Brigitte, Bélot, Alexandre, Quartier, Pierre, Frémond, Marie-Louise, Neven, Bénédicte, Boldina, Galina, Augé, Franck, Alain, Fischer, Didier, Michel, Rieux-Laucat, Frédéric, Ménager, Mickaël M

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation von Ziegler, Alban, Duclaux-Loras, Remi, Revenu, Celine, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valerie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anais, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M, Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M, Nayak, Shalini S, Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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