Not logged inMutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017)
Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma .png)
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SaveShare Save Share Save Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyRotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel Share Save Polyradiculoneuritis on MRI An Overlooked Feature of Biallelic POLG Gene Mutations in InfancyRoux, Charles-Joris; Dufeu-Berat, Claire-Marine; Hully, Marie; Rotig, Agnes; Schiff, Manuel; De Lonlay, Pascale; Aubart, Melodie; Alison, Marianne; Jaroussie, Marianne; Levy, Raphael; Dangouloff-Ros, Volodia; Barcia, Giulia; Desguerre, Isabelle; Munnich, Arnold; Gitiaux, Cyril; Boddaert, Nathalie Share Save Share Save Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disordersWang, Huilun H.; Lin, Liangguang L.; Li, Zexin J.; Wei, Xiaoqiong; Askander, Omar; Cappuccio, Gerarda; Hashem, Mais O.; Hubert, Laurence; Munnich, Arnold; Alqahtani, Mashael; Pang, Qi; Burmeister, Margit; Lu, You; Poirier, Karine; Besmond, Claude; Sun, Shengyi; Brunetti-Pierri, Nicola; Alkuraya, Fowzan S.; Qi, Ling Share Save Share Save SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityBogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Mau-Them, Frederic Tran; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Genevieve, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Juul, Trine Maxel; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cecile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jerome; Dermaut, Bart; Vitobello, Antonio Share Save 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 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 Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegiaHashimoto, Yosuke; Poirier, Karine; Boddaert, Nathalie; Hubert, Laurence; Aubart, Melodie; Kaminska, Anna; Alison, Marianne; Desguerre, Isabelle; Munnich, Arnold; Campbell, Matthew Share Save Share Save Share Save Share Save Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismSchaenzer, Anne; Achleitner, Melanie T.; Truembach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schoeneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sanchez, Jacobo Perez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cedric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas; Weber, Axel Share Save Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutationsRoux, Charles-Joris; Barcia, Giulia; Schiff, Manuel; Sissler, Marie; Levy, Raphael; Dangouloff-Ros, Volodia; Desguerre, Isabelle; Edvardson, Shimon; Elpeleg, Orli; Rotig, Agnes; Munnich, Arnold; Boddaert, Nathalie Share Save 
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