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SaveUniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia
Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; Agathe, Jean-Madeleine de Sainte; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia Share Save Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseasesRosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent Share Save Share Save Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-upMayeur, Anne; Benaloun, Emmanuelle; Benguigui, Jonas; Duperier, Constance; Hesters, Laetitia; Chatzovoulou, Kalliopi; Monnot, Sophie; Grynberg, Michael; Steffann, Julie; Frydman, Nelly; Sonigo, Charlotte Share Save Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic optionsRodari, Marco M. M.; Cazals-Hatem, Dominique; Uzzan, Mathieu; Martin Silva, Nicolas; Khiat, Anis; Ta, Minh Chau; Lhermitte, Ludovic; Touzart, Aurore; Hanein, Sylvain; Rouillon, Clea; Joly, Francisca; Elmorjani, Adrienne; Steffann, Julie; Cerf-Bensussan, Nadine; Parlato, Marianna; Charbit-Henrion, Fabienne Share Save A shared pattern of altered gene expression in human embryos affected by mitochondrial diseasesChatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rotig, Agnes; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie Share Save Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCafournet, Cerane; Zanin, Sofia; Guimier, Anne; Hully, Marie; Assouline, Zahra; Barcia, Giulia; de Lonlay, Pascale; Steffann, Julie; Munnich, Arnold; Bonnefont, Jean-Paul; Rotig, Agnes; Ruzzenente, Benedetta; Metodiev, Metodi D. Share Save ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 updateLovell-Badge, Robin; Anthony, Eric; Barker, Roger A.; Bubela, Tania; Brivanlou, Ali H.; Carpenter, Melissa; Charo, R. Alta; Clark, Amander; Clayton, Ellen; Cong, Yali; Daley, George Q.; Fu, Jianping; Fujita, Misao; Greenfield, Andy; Goldman, Steve A.; Hill, Lori; Hyun, Insoo; Isasi, Rosario; Kahn, Jeffrey; Kato, Kazuto; Kim, Jin-Soo; Kimmelman, Jonathan; Knoblich, Juergen A.; Mathews, Debra; Montserrat, Nuria; Mosher, Jack; Munsie, Megan; Nakauchi, Hiromitsu; Naldini, Luigi; Naughton, Gail; Niakan, Kathy; Ogbogu, Ubaka; Pedersen, Roger; Rivron, Nicolas; Rooke, Heather; Rossant, Janet; Round, Jeff; Saitou, Mitinori; Sipp, Douglas; Steffann, Julie; Sugarman, Jeremy; Surani, Azim; Takahashi, Jun; Tang, Fuchou; Turner, Leigh; Zettler, Patricia J.; Zhai, Xiaomei Share Save Share Save A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersSteffann, Julie; Monnot, Sophie; Magen, Maryse; Assouline, Zahra; Gigarel, Nadine; Ville, Yves; Salomon, Laurent; Bessiere, Bettina; Martinovic, Jelena; Rotig, Agnes; Bengoa, Joana; Borghese, Roxana; Munnich, Arnold; Barcia, Giulia; Bonnefont, Jean-Paul Share Save Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalBarcia, Giulia; Rio, Marlene; Assouline, Zahra; Zangarelli, Coralie; Roux, Charles-Joris; de Lonlay, Pascale; Steffann, Julie; Desguerre, Isabelle; Munnich, Arnold; Bonnefont, Jean-Paul; Boddaert, Nathalie; Rotig, Agnes; Metodiev, Metodi D.; Ruzzenente, Benedetta Share Save The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutationsBellon, N.; Hadj-Rabia, S.; Moulin, F.; Lambe, C.; Lezmi, G.; Charbit-Henrion, F.; Alby, C.; Le Sache-de Peufeilhoux, L.; Leclerc-Mercier, S.; Hadchouel, A.; Steffann, J.; Hovnanian, A.; Lapillonne, A.; Bodemer, C. Share Save Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disordersVachin, Pauline; Adda-Herzog, Elodie; Chalouhi, Gihad; Elie, Caroline; Rio, Marlene; Rondeau, Sophie; Gigarel, Nadine; Hanin, Fabienne Jabot; Monnot, Sophie; Borghese, Roxana; Bengoa, Joana; Ville, Yves; Rotig, Agnes; Munnich, Arnold; Bonnefont, Jean-Paul; Steffann, Julie Share Save NDP Gene Mutations in 14 French Families with Norrie DiseaseRoyer, Ghislaine; Hanein, Sylvain; Raclin, Valerie; Gigarel, Nadine; Rozet, Jean-Michel; Munnich, Arnold; Steffann, Julie; Dufier, Jean-Louis; Kaplan, Josseline; Bonnefont, Jean-Paul Share Save 
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