|
|
| |
| 2. | Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations |
| |
J Clin Med. 2021 Apr 28;10(9):1901. doi: 10.3390/jcm10091901.
Michael W Hess 1, Iris M Krainer 2, Przemyslaw A Filipek 2, Barbara Witting 1, Karin Gutleben 1, Ilja Vietor 3, Heinz Zoller 4, Denise Aldrian 5, Ekkehard Sturm 6, James R Goldenring 7, Andreas R Janecke 5, Thomas Müller 5, Lukas A Huber 3, Georg F Vogel 3 5
|
|
| |
|
|
| |
| 4. | Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults |
| |
Pediatr Gastroenterol Nutr. 2021 Feb 22. doi: 10.1097/MPG.0000000000003094.Online ahead of print.
Saul J Karpen 1, Binita M Kamath, John J Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J Sokol, Shelley Dunn, Richard J Thompson, James E Heubi
|
|
| |
| 5. | Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis |
| |
Gastroenterology. 2021 Mar 18;S0016-5085(21)00535-7. doi: 10.1053/j.gastro.2021.03.026.Online ahead of print.
Duc-Hung Pham 1, Ramesh Kudira 1, Lingfen Xu 2, C Alexander Valencia 3, Jillian L Ellis 1, Tiffany Shi 1, Kimberley J Evason 4, Immaculeta Osuji 1, Nelson Matuschek 1, Liva Pfuher 1, Mary Mullen 1, Sujit K Mohanty 5, Ammar Husami 6, Laura N Bull 7, Kejian Zhang 8, Sami Wali 9, Chunyue Yin 10, Alexander Miethke 11
|
|
| |
|
|
| |
|
|
| |
|
|
| |
|
|
| |
|
|
| |
| 11. | Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease |
| |
Hepatol Commun. 2020 Aug 5;4(11):1694-1707. doi: 10.1002/hep4.1574. eCollection 2020 Nov.
Benjamin L Shneider 1, Nathan P Goodrich 2, Wen Ye 3, Cindy Sawyers 4, Jean P Molleston 4, Robert M Merion 2 3, Daniel H Leung 1, Saul J Karpen 5, Binita M Kamath 6, Laurel Cavallo 1, Kasper Wang 7, Jeffrey H Teckman 8, James E Squires 9, Shikha S Sundaram 10, Philip Rosenthal 11, Rene Romero 5, Karen F Murray 12, Kathleen M Loomes 13, M Kyle Jensen 14, Jorge A Bezerra 15, Lee M Bass 16, Ronald J Sokol 10, John C Magee 3, Childhood Liver Disease Research Network (ChiLDReN)
|
|
| |
|
|
| |
|
|
| |
| 14. | Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease |
| |
J Pediatr. 2021 Feb;229:86-94.e4.doi: 10.1016/j.jpeds.2020.09.053. Epub 2020 Sep 24.
Roger Luong 1, Jeffrey A Feinstein 2, Michael Ma 3, Noelle H Ebel 2, Lisa Wise-Faberowski 4, Yulin Zhang 3, Lynn F Peng 2, Vamsi V Yarlagadda 2, Jennifer Shek 3, Frank L Hanley 3, Doff B McElhinney 5
|
|
| |
|
|
| |
| 16. | Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency |
| |
Hepatology. 2021 Mar 5. doi: 10.1002/hep.31787. Online ahead of print.
Daan B E van Wessel 1, Richard J Thompson 2, Emmanuel Gonzales 3 4, Irena Jankowska 4 5, Benjamin L Shneider 6 7, Etienne Sokal 4 8, Tassos Grammatikopoulos 2, Agustina Kadaristiana 2, Emmanuel Jacquemin 3 9, Anne Spraul 9 10, Patryk Lipinski 4 5, Piotr Czubkowski 4 5, Nathalie Rock 8, Mohammad Shagrani 11 12, Dieter Broering 11, Talal Algoufi 11, Nejat Mazhar 11, Emanuele Nicastro 13, Deirdre Kelly 4 14, Gabriella Nebbia 15, Henrik Arnell 4 16, Björn Fischler 4 16, Jan B F Hulscher 4 17, Daniele Serranti 18, Cigdem Arikan 19, Dominique Debray 20, Florence Lacaille 20, Cristina Goncalves 4 21, Loreto Hierro 4 22, Gema Muñoz Bartolo 4 22, Yael Mozer-Glassberg 23, Amer Azaz 24, Jernej Brecelj 25, Antal Dezsofi 26, Pier Luigi Calvo 27, Dorothee Krebs-Schmitt 28, Steffen Hartleif 4 29, Wendy L van der Woerd 30, Jian-She Wang 31, Li-Ting Li 31, Özlem Durmaz 32, Nanda Kerkar 33, Marianne Hørby Jørgensen 4 34, Ryan Fischer 35, Carolina Jimenez-Rivera 36, Seema Alam 37, Mara Cananzi 4 38, Noémie Laverdure 4 39, Cristina Targa Ferreira 40, Felipe Ordonez 41, Heng Wang 42, Valerie Sency 42, Kyung Mo Kim 43, Huey-Ling Chen 44, Elisa Carvalho 45, Alexandre Fabre 46, Jesus Quintero Bernabeu 4 47, Estella M Alonso 7 48, Ronald J Sokol 7 49, Frederick J Suchy 7 50, Kathleen M Loomes 7 51, Patrick J McKiernan 7 52, Philip Rosenthal 7 53, Yumirle Turmelle 7 54, Girish S Rao 7 55, Simon Horslen 7 56, Binita M Kamath 7 57, Maria Rogalidou 58, Wikrom W Karnsakul 59, Bettina Hansen 60 61, Henkjan J Verkade 1 4
|
|
| |
|
|
| |
| 18. | Alagille Syndrome |
| |
Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001.Epub 2018 Aug 22.Ellen Mitchell 1, Melissa Gilbert 2, Kathleen M Loomes 3
|
|
| |
|
|
| |
|
|
| |
| 21. | Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification |
| |
Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
Melissa A Gilbert 1, Robert C Bauer 1, Ramakrishnan Rajagopalan 1, Christopher M Grochowski 1, Grace Chao 1, Deborah McEldrew 1, James A Nassur 1, Elizabeth B Rand 2, Bryan L Krock 1, Binita M Kamath 3, Ian D Krantz 4 5, David A Piccoli 2, Kathleen M Loomes 2, Nancy B Spinner 1
|
|
| |
|
|
| |
|
|
| |
|
|
| |
|
|
| |
|
