PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Authors: Abbott, Jordan K., Aldave Becerra, Juan Carlos, Allenspach, Eric J., Assing, Kristian, Atkinson, T. Prescott, Bargir, Umair A., Baxter, Sarah K., Bergerson, Jenna R.E., Bista, Ranjan, Blanche, Stephane, Buckley, Lenore M., Butte, Manish, Carcamo, Benjamin, Chandrakala, Shanmukhaiah, Chen, Karin, Chervinskiy, Sheva, Chinn, Ivan K., Chong, Hey J., Coffey, Kara E., Copland, Andrew P., Cowen, Edward W., Cros, Guilhem, De Bruycker, Jean Jacques, Teresa de la Morena, Maria, Ehlayel, Mohammed, Forbes Satter, Lisa R., Gelfand, Erwin W., Gilliaux, Olivier, Glover, Sara C., Gorman, Mark, Griffin, Thomas A., Grimbacher, Bodo, Gru, Alejandro A., Haddad, Elie, Hadjadj, Jerome, Hajjar, Joud, Hauck, Fabian, Hautala, Timo, Holland, Steven M., Hsieh, Elena W.Y., Hsu, Florence Ida, Jacquemin, Emmanuel, Jindal, Ankur Kumar, Kahn, Stacy A., Keller, Michael D., Kobayashi, Roger H., Krupski, Christa, Larkin, Allyson, Lawrence, Monica G., Madkaikar, Manisha, Malphettes, Marion, Martelius, Timi, Mehta, Mehek, Metcalfe, Dean D., Meyts, Isabelle, Nannapaneni, Naveen, Ocejo Vinyals, J. Gonzalo, Olivier, Kenneth, Ombrello, Amanda K., Orange, Jordan S., Rabinovitch, Nathan, Rauscher, Christine K., Redfern, Ann, Reynolds, Paul R., Rieux-Laucat, Frederic, Secord, Elizabeth, Seeborg, Filiz O., Seppänen, Mikko R.J., Sereti, Irini, Shin, Daniel S., Shin, Junghee J., Snapper, Scott B., Suri, Deepti, Tangcheewinsirikul, Sirikarn, Thatayatikom, Akaluck, Torgerson, Troy, Touzot, Fabien, Uzel, Gulbu, Varjosalo, Markku, Vasconcelos, Dewton F.P., von Bernuth, Horst, Walsh, Thomas, Walter, Jolan E., Ward, Brant R., Wittkowski, Helmut, Wysocki, Christian A., Baysac, Kathleen, Sun, Guangping, Nakano, Hiroto, Schmitz, Elizabeth G., Cruz, Anthony C., Fisher, Charles, Bailey, Alexis C., Mace, Emily, Milner, Joshua D., Ombrello, Michael J.

Source: In The Journal of Allergy and Clinical Immunology January 2024 153(1):230-242

Long-term outcomes of patients with type 1 or 2 autoimmune hepatitis presenting in childhood

Authors: Maggiore, Giuseppe, Bernard, Olivier, Mosca, Antonella, Ballot, Eric, Johanet, Catherine, Jacquemin, Emmanuel

Source: Journal of hepatology. 78(5):979-988

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195066922.0x000001&indx=1&recIds=ETOCvdc_100195066922.0x000001

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Authors: Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Étienne, Demaret, Tanguy, Ebel, Noelle H., Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Björn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan T., Larson‐Nath, Catherine, Mozer‐Glassberg, Yael, Arikan, Cigdem, Lin, Henry C., Bernabeu, Jesus Quintero, Alam, Seema, Kelly, Deirdre A., Carvalho, Elisa, Ferreira, Cristina Targa, Indolfi, Giuseppe, Quiros‐Tejeira, Ruben E., Bulut, Pinar, Calvo, Pier Luigi, Önal, Zerrin, Valentino, Pamela L., Desai, Dev M., Eshun, John, Rogalidou, Maria, Dezsőfi, Antal, Wiecek, Sabina, Nebbia, Gabriella, Pinto, Raquel Borges, Wolters, Victorien M., Tamara, María Legarda, Zizzo, Andréanne N., Garcia, Jennifer, Schwarz, Kathleen, Beretta, Marisa, Sandahl, Thomas Damgaard, Jimenez‐Rivera, Carolina, Kerkar, Nanda, Brecelj, Jernej, Mujawar, Quais, Rock, Nathalie, Busoms, Cristina Molera, Karnsakul, Wikrom, Lurz, Eberhard, Santos‐Silva, Ermelinda, Blondet, Niviann, Bujanda, Luis, Shah, Uzma, Thompson, Richard J., Hansen, Bettina E., Kamath, Binita M.

Source: Hepatology. 77(2):512-529

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188571678.0x000001&indx=1&recIds=ETOCvdc_100188571678.0x000001

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

Authors: Gonzales, Emmanuel, Gardin, Antoine, Almes, Marion, Darmellah-Remil, Amaria, Seguin, Hanh, Mussini, Charlotte, Franchi-Abella, Stéphanie, Duché, Mathieu, Ackermann, Oanez, Thébaut, Alice, Habes, Dalila, Hermeziu, Bogdan, Lapalus, Martine, Falguières, Thomas, Combal, Jean-Philippe, Benichou, Bernard, Valero, Sonia, Davit-Spraul, Anne, Jacquemin, Emmanuel

Source: In JHEP Reports October 2023 5(10)

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Authors: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe

Source: In Genetics in Medicine April 2023 25(4)

A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France

Authors: Gardin, Antoine, Mussini, Charlotte, Héron, Bénédicte, Schiff, Manuel, Brassier, Anaïs, Dobbelaere, Dries, Broué, Pierre, Sevin, Caroline, Vanier, Marie T., Habes, Dalila, Jacquemin, Emmanuel, Gonzales, Emmanuel

Source: In The Journal of Pediatrics March 2023 254:75-82

Maralixibat Treatment Response in Alagille Syndrome is Associated with Improved Health-Related Quality of Life

Authors: Kamath, Binita M., Goldstein, Andrea, Howard, Robin, Garner, Will, Vig, Pamela, Marden, Jessica R., Billmyer, Emma, Anderson, Annika, Kirson, Noam, Jacquemin, Emmanuel, Gonzales, Emmanuel

Source: In The Journal of Pediatrics January 2023 252:68-75

Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group

Authors: Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D'Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, Kamath, Binita M.

Source: Journal of hepatology. 78(S1):S971-S973

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195500899.0x000001&indx=1&recIds=ETOCvdc_100195500899.0x000001

Efficacy and Safety of Endoscopic Primary Prophylaxis of Bleeding in Children With High-Risk Gastroesophageal Varices

Authors: Ackermann, Oanez, Darmellah-Remil, Amaria, Bernard, Olivier, Boytchev, Isabelle, Staiti, Giuseppe, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Duché, Mathieu

Source: Journal of pediatric gastroenterology and nutrition. 75(4):491-496

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171073927.0x000001&indx=1&recIds=ETOCvdc_100171073927.0x000001

A Model for Early Endoscopic Detection of High-Risk Gastroesophageal Varices in Children With Biliary Atresia

Authors: Ackermann, Oanez, de Boissieu, Paul, Bernard, Olivier, Gonzales, Emmanuel, Jacquemin, Emmanuel, Duché, Mathieu

Source: Journal of pediatric gastroenterology and nutrition. 74(5):643-650

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150874454.0x000001&indx=1&recIds=ETOCvdc_100150874454.0x000001

Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Authors: Guida, Lelio, Gardin, Antoine, James, Syril, Arnaud, Eric, Toujouse, Capucine, Roux, Julia, Barreau, Emmanuel, Abdallah, Maya Benali, Almes, Marion, Sartori, Luca, Kavoura, Konstantina, Ackermann, Oanez, Gonzales, Emmanuel, Jacquemin, Emmanuel, Khonsari, Roman Hossein, Paternoster, Giovanna

Source: Neurosurgical Focus; Jan2025, Vol. 58 Issue 1, p1-7, 7p

Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study

Authors: Gonzales, Emmanuel ^*, Hardikar, Winita, Stormon, Michael, Baker, Alastair, Hierro, Loreto, Gliwicz, Dorota, Lacaille, Florence, Lachaux, Alain, Sturm, Ekkehard, Setchell, Kenneth D R, Kennedy, Ciara, Dorenbaum, Alejandro, Steinmetz, Jana, Desai, Nirav K, Wardle, Andrew J, Garner, Will, Vig, Pamela, Jaecklin, Thomas, Sokal, Etienne M, Jacquemin, Emmanuel

Source: In The Lancet 30 October-5 November 2021 398(10311):1581-1592

Long-term results of pediatric liver transplantation for autoimmune liver disease

Authors: Couchonnal, Eduardo, Jacquemin, Emmanuel, Lachaux, Alain, Ackermann, Oanez, Gonzales, Emmanuel, Lacaille, Florence, Debray, Dominique, Boillot, Olivier, Guillaud, Olivier, Wildhaber, Barbara E., Chouik, Yasmina, McLin, Valérie, Dumortier, Jérôme

Source: In Clinics and Research in Hepatology and Gastroenterology May 2021 45(3)

Long term results of liver transplantation for alpha-1 antitrypsin deficiency

Authors: Guillaud, Olivier, Jacquemin, Emmanuel, Couchonnal, Eduardo, Vanlemmens, Claire, Francoz, Claire, Chouik, Yasmina, Conti, Filomena, Duvoux, Christophe, Hilleret, Marie-Noëlle, Kamar, Nassim, Houssel-Debry, Pauline, Neau-Cransac, Martine, Pageaux, Georges-Philippe, Gonzales, Emmanuel, Ackermann, Oanez, Gugenheim, Jean, Lachaux, Alain, Ruiz, Mathias, Radenne, Sylvie, Debray, Dominique, Lacaille, Florence, McLin, Valérie, Duclos-Vallée, Jean-Charles, Samuel, Didier, Coilly, Audrey, Dumortier, Jérôme

Source: In Digestive and Liver Disease May 2021 53(5):606-611

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia

Authors: Becker, Pierre-Hadrien, Demir, Zeynep, Mozer Glassberg, Yael, Sevin, Caroline, Habes, Dalila, Imbard, Apolline, Mussini, Charlotte, Rozenfeld Bar Lev, Michal, Davit-Spraul, Anne, Benoist, Jean-François, Thérond, Patrice, Slama, Abdelhamid, Jacquemin, Emmanuel, Gonzales, Emmanuel, Gaignard, Pauline

Source: In Molecular Genetics and Metabolism January 2021 132(1):38-43

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

Authors: Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.

Source: Hepatology. 74(2):892-906

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135391670.0x000001&indx=1&recIds=ETOCvdc_100135391670.0x000001

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study

Authors: Amzal, Rachida, Thébaut, Alice, Lapalus, Martine, Almes, Marion, Grosse, Brigitte, Mareux, Elodie, Collado‐Hilly, Mauricette, Davit‐Spraul, Anne, Bidou, Laure, Namy, Olivier, Jacquemin, Emmanuel, Gonzales, Emmanuel

Source: Hepatology. 73(4):1449-1463

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135390948.0x000001&indx=1&recIds=ETOCvdc_100135390948.0x000001

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

Authors: van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, van der Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.

Source: Hepatology. 74(2):892-906

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191465071.0x000001&indx=1&recIds=ETOCvdc_100191465071.0x000001

Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants

Authors: Ben Saad, Amel, Vauthier, Virginie, Tóth, Ágota, Janaszkiewicz, Angelika, Durand‐Schneider, Anne‐Marie, Bruneau, Alix, Delaunay, Jean‐Louis, Lapalus, Martine, Mareux, Elodie, Garcin, Isabelle, Gonzales, Emmanuel, Housset, Chantal, Aït‐Slimane, Tounsia, Jacquemin, Emmanuel, Di Meo, Florent, Falguières, Thomas

Source: Liver international. 41(6):1344-1357

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164597921.0x000001&indx=1&recIds=ETOCvdc_100164597921.0x000001

Genotype correlates with the natural history of severe bile salt export pump deficiency

Authors: van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A., Nebbia, Gabriella, Arnell, Henrik, Björn Fischler, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M.G., Hansen, Bettina E., Verkade, Henkjan J.

Source: In Journal of Hepatology July 2020 73(1):84-93