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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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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Journal Article
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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Journal Article
Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz
Published in Hepatology communications (01.07.2022)
Published in Hepatology communications (01.07.2022)
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Journal Article
ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants
Nayagam, Jeremy S., Jeyaraj, Rebecca, Foskett, Pierre, Dhawan, Anil, Ala, Aftab, Joshi, Deepak, Bomford, Adrian, Thompson, Richard J.
Published in Clinical gastroenterology and hepatology (01.05.2023)
Published in Clinical gastroenterology and hepatology (01.05.2023)
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Journal Article
Cholestasis Due to USP53 Deficiency
Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, Thompson, Richard J.
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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Journal Article
TKI dose reduction can effectively maintain major molecular remission in patients with chronic myeloid leukaemia
Claudiani, Simone, Apperley, Jane F., Szydlo, Richard, Khan, Afzal, Nesr, George, Hayden, Chloe, Innes, Andrew, Dominy, Kathy, Foskett, Pierre, Foroni, Letizia, Khorashad, Jamshid, Milojkovic, Dragana
Published in British journal of haematology (01.04.2021)
Published in British journal of haematology (01.04.2021)
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Journal Article
BRAF V600E mutation in biliary proliferations associated with α1‐antitrypsin deficiency
Angkathunyakul, Napat, Rosini, Francesca, Heaton, Nigel, Foskett, Pierre, Quaglia, Alberto
Published in Histopathology (01.02.2017)
Published in Histopathology (01.02.2017)
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Journal Article
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology
Hegarty, Robert, Gibson, Philippa, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Ellard, Sian, Baptista, Julia, Lillis, Suzanne, Bansal, Sanjay, Vara, Roshni, Dhawan, Anil, Grammatikopoulos, Tassos, Thompson, Richard J.
Published in The Journal of pediatrics (01.09.2021)
Published in The Journal of pediatrics (01.09.2021)
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Journal Article
Assessment of quantitative polymerase chain reaction for BCR–ABL1 transcripts in chronic myeloid leukaemia: Are improved outcomes in patients with e14a2 transcripts an artefact of technology?
Dominy, Katherine M., Claudiani, Simone, O’Hare, Matthew, Szydlo, Richard, Gerrard, Gareth, Foskett, Pierre, Foroni, Letizia, Milojkovic, Dragana, Apperley, Jane F., Khorashad, Jamshid
Published in British journal of haematology (01.04.2022)
Published in British journal of haematology (01.04.2022)
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Journal Article
Guideline Review: European Association for the Study of Liver (EASL) Clinical Practice Guidelines on Haemochromatosis
Liu Yin, James, Cussen, Christopher, Harrington, Christopher, Foskett, Pierre, Raja, Kishor, Ala, Aftab
Published in Journal of clinical and experimental hepatology (01.07.2023)
Published in Journal of clinical and experimental hepatology (01.07.2023)
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Journal Article
BRAF V600E mutation in biliary proliferations associated with α 1 -antitrypsin deficiency
Angkathunyakul, Napat, Rosini, Francesca, Heaton, Nigel, Foskett, Pierre, Quaglia, Alberto
Published in Histopathology (01.02.2017)
Published in Histopathology (01.02.2017)
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Journal Article
BRAF V600E mutation in biliary proliferations associated with [alpha]1-antitrypsin deficiency
Angkathunyakul, Napat, Rosini, Francesca, Heaton, Nigel, Foskett, Pierre, Quaglia, Alberto
Published in Histopathology (01.02.2017)
Published in Histopathology (01.02.2017)
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Journal Article
Mutations in Myosin 5B in Children With Early‐onset Cholestasis
Cockar, Iram, Foskett, Pierre, Strautnieks, Sandra, Clinch, Yasmin, Fustok, Jana, Rahman, Obydur, Sutton, Harry, Mtegha, Marumbo, Fessatou, Smaragdi, Kontaki, Elena, Papaevangelou, Vassiliki, Deheragoda, Maesha, Thompson, Richard J., Grammatikopoulos, Tassos
Published in Journal of pediatric gastroenterology and nutrition (01.08.2020)
Published in Journal of pediatric gastroenterology and nutrition (01.08.2020)
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Journal Article
Hepatocellular carcinoma associated with tight‐junction protein 2 deficiency
Zhou, Shengmei, Hertel, Paula M., Finegold, Milton J., Wang, Larry, Kerkar, Nanda, Wang, Jing, Wong, Lee‐Jun C., Plon, Sharon E., Sambrotta, Melissa, Foskett, Pierre, Niu, Zhiyv, Thompson, Richard J., Knisely, A.S.
Published in Hepatology (Baltimore, Md.) (01.12.2015)
Published in Hepatology (Baltimore, Md.) (01.12.2015)
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Journal Article
FRI-441-A novel heterozygous ABCB, RUNDC3B and ABCB1 deletion associated with severe cholestatic liver disease in adults
Terziroli, Benedetta, Thompson, Richard, Foskett, Pierre, Cerny, Andreas, Merlo, Elisabetta, Vergani, Diego, Rougemont, Anne-Laure, Moix, Isabelle, Mieli-Vergani, Giorgina, Morris, Michael
Published in Journal of hepatology (01.04.2019)
Published in Journal of hepatology (01.04.2019)
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Journal Article
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis
Eiseler, Katharina, Neppl, Lea, Schmidt, Andreas W, Rauscher, Beate, Ewers, Maren, Masson, Emmanuelle, Chen, Jian-Min, Férec, Claude, Rebours, Vinciane, Grammatikopoulos, Tassos, Foskett, Pierre, Greenhalf, William, Halloran, Christopher, Neoptolemos, John, Haack, Tobias B, Ossowski, Stephan, Sturm, Marc, Rosendahl, Jonas, Laumen, Helmut, Witt, Heiko
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.12.2023)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.12.2023)
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Journal Article
A Heterozygous ABCB4, RUNDC3B, and ABCB1 Deletion Associated With Severe Cholestatic Liver Disease in Adulthood
Terziroli Beretta‐Piccoli, Benedetta, Thompson, Richard, Foskett, Pierre, Cerny, Andreas, Merlo, Elisabetta, Vergani, Diego, Rougemont, Anne‐Laure, Moix, Isabelle, Mieli‐Vergani, Giorgina, Morris, Michael
Published in Hepatology (Baltimore, Md.) (01.10.2019)
Published in Hepatology (Baltimore, Md.) (01.10.2019)
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