Description of the Two-Dimensional Layer-Specific Strain Echocardiography Phenotype of Arrhythmogenic Left Ventricular Cardiomyopathy

Authors: Grimault, Dimitri, Serfaty, Jean-Michel, Guyomarch, Béatrice, Marteau, Lara, Goudal, Adeline, Schmitt, Sébastien, Warin-Fresse, Karine, Clero, Sophie, Fellah, Imen, Thollet, Aurélie, Probst, Vincent, Le Tourneau, Thierry, Trochu, Jean-Noël, Piriou, Nicolas

Source: In Journal of the American Society of Echocardiography October 2024 37(10):960-970

Radiochemistry with {Al18F}2+: Current status and optimization perspectives for efficient radiofluorination by complexation

Authors: Schmitt, Sébastien, Moreau, Emmanuel

Source: In Coordination Chemistry Reviews 1 April 2023 480

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Authors: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., Isidor, Bertrand

Source: In Genetics in Medicine September 2022 24(9):1941-1951

Simultaneous proteoglycans and hypoxia mapping of chondrosarcoma environment by frequency selective CEST MRI

Authors: Autissier, Roxane, Mazuel, Leslie, Maubert, Elise, Bonny, Jean‐Marie, Auzeloux, Philippe, Schmitt, Sébastien, Traoré, Amidou, Peyrode, Caroline, Miot‐Noirault, Elisabeth, Pagés, Guilhem

Source: Magnetic resonance in medicine. 86(2):1008-1018

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Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

Authors: Le Meur, Guylène, Lebranchu, Pierre, Billaud, Fanny, Adjali, Oumeya, Schmitt, Sébastien, Bézieau, Stéphane, Péréon, Yann, Valabregue, Romain, Ivan, Catherine, Darmon, Christophe, Moullier, Philippe, Rolling, Fabienne, Weber, Michel

Source: In Molecular Therapy 3 January 2018 26(1):256-268

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Authors: Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, Bilan, Frédéric, Audrezet, Marie‐Pierre, Saugier‐Veber, Pascale, Fauret‐Amsellem, Anne‐Laure, Missirian, Chantal, Kuentz, Paul, Egea, Gregory, Guichet, Agnès, Creveaux, Isabelle, Janel, Caroline, Harzallah, Ines, Touraine, Renaud, Goumy, Carole, Joyé, Nicole, Puechberty, Jacques, Haquet, Emmanuelle, Chantot‐Bastaraud, Sandra, Schmitt, Sébastien, Gosset, Philippe, Duban‐Bedu, Bénédicte, Delobel, Bruno, Vago, Philippe, Vialard, François, Gomes, Denise Molina, Siffroi, Jean‐Pierre, Bonnefont, Jean‐Paul, Dupont, Jean‐Michel, Jonveaux, Philippe, Doco‐Fenzy, Martine, Sanlaville, Damien, Le Caignec, Cédric

Source: Prenatal diagnosis. 39(11):986-992

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Authors: Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Prescott, Trine E., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra

Source: In The American Journal of Human Genetics 2 November 2017 101(5):768-788

Synthesis and preliminary in vivo evaluation of new [18F]fluoro-inositols as Positron Emission Tomography radiotracers

Authors: Collet, Charlotte, Schmitt, Sébastien, Maskali, Fatiha, Clément, Alexandra, Chrétien, Françoise, Karcher, Gilles, Marie, Pierre-Yves, Poussier, Sylvain, Lamandé-Langle, Sandrine

Source: In Bioorganic & Medicinal Chemistry 15 October 2017 25(20):5603-5612

N-[18F]-FluoropropylJDTic for κ-opioid receptor PET imaging: Radiosynthesis, pre-clinical evaluation, and metabolic investigation in comparison with parent JDTic

Authors: Schmitt, Sébastien, Delamare, Jérôme, Tirel, Olivier, Fillesoye, Fabien, Dhilly, Martine, Perrio, Cécile

Source: In Nuclear Medicine and Biology January 2017 44:50-61

Base/Cryptand/Metal‐Free Automated Nucleophilic Radiofluorination of [18F]FDOPA from Iodonium Salts: Importance of Hydrogen Carbonate Counterion

Authors: Maisonial‐Besset, Aurélie, Serre, Audrey, Ouadi, Ali, Schmitt, Sébastien, Canitrot, Damien, Léal, Fernand, Miot‐Noirault, Elisabeth, Brasse, David, Marchand, Patrice, Chezal, Jean‐Michel

Source: European journal of organic chemistry. 2018(48):7058-7065

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Highlighting the impact of cascade carrier testing in cystic fibrosis families

Authors: Duguépéroux, Ingrid, L'Hostis, Carine, Audrézet, Marie-Pierre, Rault, Gilles, Frachon, Irène, Bernard, Rémy, Parent, Philippe, Blayau, Martine, Schmitt, Sébastien, Génin, Emmanuelle, Férec, Claude, Scotet, Virginie

Source: In Journal of Cystic Fibrosis July 2016 15(4):452-459

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing

Authors: Baurand, Amandine, Falcon‐Eicher, Sylvie, Laurent, Gabriel, Villain, Elisabeth, Bonnet, Caroline, Thauvin‐Robinet, Christel, Jacquot, Caroline, Eicher, Jean‐Christophe, Gourraud, Jean‐Baptiste, Schmitt, Sébastien, Bézieau, Stéphane, Giraud, Mathilde, Dumont, Solenne, Kuentz, Paul, Probst, Vincent, Burguet, Antoine, Kyndt, Florence, Faivre, Laurence

Source: American journal of medical genetics.Part A. 173(2):531-536

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Authors: Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

Source: American journal of human genetics. 100(2):352-363

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Novel fluoroalkyl derivatives of selective kappa opioid receptor antagonist JDTic: Design, synthesis, pharmacology and molecular modeling studies

Authors: Schmitt, Sébastien, Colloc'h, Nathalie, Perrio, Cécile

Source: In European Journal of Medicinal Chemistry 27 January 2015 90:742-750

Toward a reproductive and automated radiolabelling with {Al18F}2+ complex? A full comparison with the radiolabelling of small molecules

Authors: Schmitt, Sébastien, Sophie, Levesque, Moreau, Emmanuel

Source: Nuclear medicine and biology. 108(S):S86-S87

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163691184.0x000001&indx=1&recIds=ETOCvdc_100163691184.0x000001

Comparative evaluation by SPECT and PET imaging of two immuno-pre-targeting systems in an in vivo model of triple negative breast tumours with anti-EGFR antibodies

Authors: Briat, Arnaud, Schmitt, Sébastien, Besse, Sophie, Delmas, Marine, Ty, Nancy, Tarrit, Sébastien, Quintana, Mercedes, Miot-Noirault, Elisabeth, Moreau, Emmanuel

Source: Nuclear medicine and biology. 108(S):S204-S205

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Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

Authors: Auger, Julie, Baptiste, Amandine, Benabbad, Imane, Thierry, Gaëlle, Costa, Jean-Marc, Amouyal, Mélanie, Kottler, Marie-Laure, Leheup, Bruno, Touraine, Renaud, Schmitt, Sébastien, Lebrun, Marine, Cormier Daire, Valérie, Bonnefont, Jean-Paul, de Roux, Nicolas, Elie, Caroline, Rosilio, Myriam

Source: Hormone research in pædiatrics. 86(5):309-318

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Authors: Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

Source: American journal of human genetics. 98(5):1001-1010

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[18F]ML-10 PET imaging fails to assess early response to neoadjuvant chemotherapy in a preclinical model of triple negative breast cancer

Authors: Jouberton, Elodie, Schmitt, Sébastien, Chautard, Emmanuel, Maisonial-Besset, Aurélie, Roy, Marie, Radosevic-Robin, Nina, Chezal, Jean-Michel, Miot-Noirault, Elisabeth, Bouvet, Yann, Cachin, Florent

Source: EJNMMI research. 10(1)

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In vitro and preliminary in vivo assessment of monocarboxylate transporter ligand as potential radiotracer for single photon emission computed tomography (SPECT) imaging of triple-negative breast cancer

Authors: Schmitt, Sébastien, Bitard, Leslie, Besse, Sophie, Miot-Noirault, Elisabeth, Mazuel, Lelsie, Debiton, Eric, Moreau, Emmanuel

Source: Nuclear medicine and biology. 108(S):S205-S205

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