Mutations in TJP2 cause progressive cholestatic liver disease
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Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Human Leukocyte Antigen Profile Predicts Severity of Autoimmune Liver Disease in Children of European Ancestry
Ma, Yun, Su, Haibin, Yuksel, Muhammed, Longhi, Maria Serena, McPhail, Mark J., Wang, Pengyun, Bansal, Sanjay, Wong, Guan‐Wee, Graham, Jonathon, Yang, Li, Thompson, Richard, Doherty, Derek G., Hadzic, Nedim, Zen, Yoh, Quaglia, Alberto, Heneghan, Michael A., Samyn, Marianne, Vergani, Diego, Mieli‐Vergani, Giorgina
Published in Hepatology (Baltimore, Md.) (01.10.2021)
Published in Hepatology (Baltimore, Md.) (01.10.2021)
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Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis
Grammatikopoulos, Tassos, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Knisely, A.S, Wagner, Bart, Deheragoda, Maesha, Starling, Chris, Mieli-Vergani, Giorgina, Smith, Joshua, Bull, Laura, Thompson, Richard J
Published in Journal of hepatology (01.12.2016)
Published in Journal of hepatology (01.12.2016)
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Use of a Comprehensive 66‐Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults
Karpen, Saul J., Kamath, Binita M., Alexander, John J., Ichetovkin, Ilia, Rosenthal, Philip, Sokol, Ronald J., Dunn, Shelley, Thompson, Richard J., Heubi, James E.
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
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Clinical phenotype of adult‐onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1
Nayagam, Jeremy S., Foskett, Pierre, Strautnieks, Sandra, Agarwal, Kosh, Miquel, Rosa, Joshi, Deepak, Thompson, Richard J.
Published in Hepatology communications (01.10.2022)
Published in Hepatology communications (01.10.2022)
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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing
Byrne, Jane A., Strautnieks, Sandra S., Ihrke, Gudrun, Pagani, Franco, Knisely, A.S., Linton, Kenneth J., Mieli‐Vergani, Giorgina, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.02.2009)
Published in Hepatology (Baltimore, Md.) (01.02.2009)
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Maralixibat for the treatment of PFIC: Long‐term, IBAT inhibition in an open‐label, Phase 2 study
Loomes, Kathleen M., Squires, Robert H., Kelly, Deirdre, Rajwal, Sanjay, Soufi, Nisreen, Lachaux, Alain, Jankowska, Irena, Mack, Cara, Setchell, Kenneth D. R., Karthikeyan, Palaniswamy, Kennedy, Ciara, Dorenbaum, Alejandro, Desai, Nirav K., Garner, Will, Jaecklin, Thomas, Vig, Pamela, Miethke, Alexander, Thompson, Richard J.
Published in Hepatology communications (01.09.2022)
Published in Hepatology communications (01.09.2022)
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Approximate Solutions of Combinatorial Problems via Quantum Relaxations
Fuller, Bryce, Hadfield, Charles, Glick, Jennifer R., Imamichi, Takashi, Itoko, Toshinari, Richard Thompson, J., Jiao, Yang, Marna Kagele, M., Adriana, W. Blom-Schieber, Raymond, Rudy, Mezzacapo, Antonio
Published in IEEE transactions on quantum engineering (2024)
Published in IEEE transactions on quantum engineering (2024)
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Quantum computation of reactions on surfaces using local embedding
Gujarati, Tanvi P., Motta, Mario, Friedhoff, Triet Nguyen, Rice, Julia E., Nguyen, Nam, Barkoutsos, Panagiotis Kl, Thompson, Richard J., Smith, Tyler, Kagele, Marna, Brei, Mark, Jones, Barbara A., Williams, Kristen
Published in npj quantum information (12.09.2023)
Published in npj quantum information (12.09.2023)
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The human bile salt export pump: characterization of substrate specificity and identification of inhibitors
Byrne, Jane A, Strautnieks, Sandra S, Mieli-Vergani, Giorgina, Higgins, Christopher F, Linton, Kenneth J, Thompson, Richard J
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
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Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1
Grammatikopoulos, Tassos, Hadzic, Nedim, Foskett, Pierre, Strautnieks, Sandra, Samyn, Marianne, Vara, Roshni, Dhawan, Anil, Hertecant, Jozef, Al Jasmi, Fatma, Rahman, Obydur, Deheragoda, Maesha, Bull, Laura N., Thompson, Richard J
Published in Hepatology communications (01.03.2022)
Published in Hepatology communications (01.03.2022)
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Impact of long‐term administration of maralixibat on children with cholestasis secondary to Alagille syndrome
Shneider, Benjamin L., Spino, Catherine A., Kamath, Binita M., Magee, John C., Ignacio, Rosalinda V., Huang, Suiyuan, Horslen, Simon P., Molleston, Jean P., Miethke, Alexander G., Kohli, Rohit, Leung, Daniel H., Jensen, M. Kyle, Loomes, Kathleen M., Karpen, Saul J., Mack, Cara, Rosenthal, Philip, Squires, Robert H., Baker, Alastair, Rajwal, Sanjay, Kelly, Deirdre, Sokol, Ronald J., Thompson, Richard J.
Published in Hepatology communications (01.08.2022)
Published in Hepatology communications (01.08.2022)
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Genetic aetiologies of acute liver failure
Hegarty, Robert, Thompson, Richard J.
Published in Journal of inherited metabolic disease (01.07.2024)
Published in Journal of inherited metabolic disease (01.07.2024)
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Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency
Li, Chao Zheng, Ogawa, Hiromi, Ng, Soon Seng, Chen, Xindi, Kishimoto, Eriko, Sakabe, Kokoro, Fukami, Aiko, Hu, Yueh-Chiang, Mayhew, Christopher N., Hellmann, Jennifer, Miethke, Alexander, Tasnova, Nahrin L., Blackford, Samuel J.I., Tang, Zu Ming, Syanda, Adam M., Ma, Liang, Xiao, Fang, Sambrotta, Melissa, Tavabie, Oliver, Soares, Filipa, Baker, Oliver, Danovi, Davide, Hayashi, Hisamitsu, Thompson, Richard J., Rashid, S. Tamir, Asai, Akihiro
Published in JHEP reports (01.04.2022)
Published in JHEP reports (01.04.2022)
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Genetic cholestasis in children and adults
Nayagam, Jeremy S., Miquel, Rosa, Thompson, Richard J., Joshi, Deepak
Published in Journal of hepatology (01.04.2024)
Published in Journal of hepatology (01.04.2024)
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