Yael Mozer Glassberg
AuthID: R-00J-01P
1
TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: Scopus WOS
2
TITLE: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
AUTHORS: Felzen, Antonia; van Wessel, Daan B. E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
AUTHORS: Felzen, Antonia; van Wessel, Daan B. E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
INDEXED IN: Scopus WOS
3
TITLE: SERUM BILE ACIDS ARE ASSOCIATED WITH NATIVE LIVER SURVIVAL IN PATIENTS WITH ALAGILLE SYNDROME: RESULTS FROM THE GALA STUDY GROUP Full Text
AUTHORS: Perez, Carla Fiorella Murillo; Vandriel, Shannon M.; Wang, Jian She; Li, Li Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Bjorn; Arnell, Henrik; Siew, Susan; Stormon, Michael O.; Loomes, Kathleen M.; Piccoli, David A.; Rand, Elizabeth; ...More
PUBLISHED: 2023, SOURCE: Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 78
AUTHORS: Perez, Carla Fiorella Murillo; Vandriel, Shannon M.; Wang, Jian She; Li, Li Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Bjorn; Arnell, Henrik; Siew, Susan; Stormon, Michael O.; Loomes, Kathleen M.; Piccoli, David A.; Rand, Elizabeth; ...More
PUBLISHED: 2023, SOURCE: Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 78
INDEXED IN: WOS
4
TITLE: Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study Full Text
AUTHORS: Vandriel, Shannon M.; Li, Li Ting; She, Huiyu; Wang, Jian She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastro, Emanuele; Sokal, Etienne; Demaret, Tanguy; Ebel, Noelle H.; Feinstein, Jeffrey A.; ...More
PUBLISHED: 2022, SOURCE: HEPATOLOGY
AUTHORS: Vandriel, Shannon M.; Li, Li Ting; She, Huiyu; Wang, Jian She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastro, Emanuele; Sokal, Etienne; Demaret, Tanguy; Ebel, Noelle H.; Feinstein, Jeffrey A.; ...More
PUBLISHED: 2022, SOURCE: HEPATOLOGY
INDEXED IN: WOS
5
TITLE: Genotype correlates with the natural history of severe bile salt export pump deficiency
AUTHORS: Daan B E van Wessel; Richard J Thompson; Emmanuel Gonzales; Irena Jankowska; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipinski; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriella Nebbia; Henrik Arnell; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF HEPATOLOGY, VOLUME: 73, ISSUE: 1
AUTHORS: Daan B E van Wessel; Richard J Thompson; Emmanuel Gonzales; Irena Jankowska; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipinski; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriella Nebbia; Henrik Arnell; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF HEPATOLOGY, VOLUME: 73, ISSUE: 1
INDEXED IN: Scopus WOS
6
TITLE: PHENOTYPIC DIVERGENCE OF JAGGED1 AND NOTCH2-ASSOCIATED ALAGILLE SYNDROME: RESULTS FROM THE INTERNATIONAL MULTICENTER GALA STUDY GROUP Full Text
AUTHORS: Shannon Vandriel; Liting T Li; Huiyu Y She; Jian She Wang; Melissa A Gilbert; Nancy B Spinner; Kathleen M Loomes; David A Piccoli; Lorenzo D'Antiga; Emanuele Nicastro; Pier Luigi Calvo; Winita Hardikar; Sahana Shankar; Rima L Fawaz; Silvia Nastasio; Pinar Bulut; Irena Jankowska; Piotr Czubkowski; Dorota Gliwicz Miedzinska; Etienne Sokal; ...More
PUBLISHED: 2020, SOURCE: Liver Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 72
AUTHORS: Shannon Vandriel; Liting T Li; Huiyu Y She; Jian She Wang; Melissa A Gilbert; Nancy B Spinner; Kathleen M Loomes; David A Piccoli; Lorenzo D'Antiga; Emanuele Nicastro; Pier Luigi Calvo; Winita Hardikar; Sahana Shankar; Rima L Fawaz; Silvia Nastasio; Pinar Bulut; Irena Jankowska; Piotr Czubkowski; Dorota Gliwicz Miedzinska; Etienne Sokal; ...More
PUBLISHED: 2020, SOURCE: Liver Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 72
INDEXED IN: WOS
7
TITLE: Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium
AUTHORS: Daan van Wessel; Richard Thompson; Tassos Grammatikopoulos; Agustina Kadaristiana; Irena Jankowska; Patryk Lipineski; Piotr Czubkowski; Emmanuel Gonzales; Emmanuel Jacquemin; Anne Spraul; Etienne Sokal; Mohammad Ali Shagrani; Dieter Clemens Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Bjorn Fischler; ...More
PUBLISHED: 2019, SOURCE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
AUTHORS: Daan van Wessel; Richard Thompson; Tassos Grammatikopoulos; Agustina Kadaristiana; Irena Jankowska; Patryk Lipineski; Piotr Czubkowski; Emmanuel Gonzales; Emmanuel Jacquemin; Anne Spraul; Etienne Sokal; Mohammad Ali Shagrani; Dieter Clemens Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Bjorn Fischler; ...More
PUBLISHED: 2019, SOURCE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
8
TITLE: GENOTYPE-PHENOTYPE RELATIONSHIPS IN PATIENTS WITH RELATIVELY MILD MUTATIONS IN ABCB11: RESULTS FROM THE NAPPED CONSORTIUM. Full Text
AUTHORS: Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Etienne M Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Patryk Lipinski; Piotr Czubkowski; Emmanuel Jacquemin; Anne Spraul; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriela Nebbia; Henrik Arnell; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
AUTHORS: Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Etienne M Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Patryk Lipinski; Piotr Czubkowski; Emmanuel Jacquemin; Anne Spraul; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriela Nebbia; Henrik Arnell; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
9
TITLE: CLINICAL FEATURES AND OUTCOMES IN AN INTERNATIONAL COHORT OF 731 ALAGILLE SYNDROME PATIENTS FROM 19 COUNTRIES Full Text
AUTHORS: Shannon Vandriel; Jian She Wang; Liting T Li; David A Piccoli; Kathleen M Loomes; Etienne M Sokal; Tanguy Demaret; Henrik Arnell; Bjorn Fischler; Rima L Fawaz; Silvia Nastasio; Winita Hardikar; Sahana Shankar; Way S Lee; Chatmanee Lertudomphonwanit; Wikrom Karnsakul; Saul J Karpen; Ryan T Fischer; Ruben E Quiros; Melina Melere; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
AUTHORS: Shannon Vandriel; Jian She Wang; Liting T Li; David A Piccoli; Kathleen M Loomes; Etienne M Sokal; Tanguy Demaret; Henrik Arnell; Bjorn Fischler; Rima L Fawaz; Silvia Nastasio; Winita Hardikar; Sahana Shankar; Way S Lee; Chatmanee Lertudomphonwanit; Wikrom Karnsakul; Saul J Karpen; Ryan T Fischer; Ruben E Quiros; Melina Melere; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS