Alagille Syndrome
Mitchell, Ellen, Gilbert, Melissa, Loomes, Kathleen M
Published in Clinics in liver disease (01.11.2018)
Published in Clinics in liver disease (01.11.2018)
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Journal Article
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment
Kohut, Taisa J, Gilbert, Melissa A, Loomes, Kathleen M
Published in Seminars in liver disease (01.11.2021)
Published in Seminars in liver disease (01.11.2021)
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Journal Article
Cholestatic liver diseases of genetic etiology: Advances and controversies
Ibrahim, Samar H., Kamath, Binita M., Loomes, Kathleen M., Karpen, Saul J.
Published in Hepatology (Baltimore, Md.) (01.06.2022)
Published in Hepatology (Baltimore, Md.) (01.06.2022)
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Journal Article
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1
Chen, Ying, Gilbert, Melissa A, Grochowski, Christopher M, McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E, Russo, Pierre, Wells, Rebecca G, Loomes, Kathleen M, Spinner, Nancy B, Devoto, Marcella
Published in PLoS genetics (13.08.2018)
Published in PLoS genetics (13.08.2018)
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Journal Article
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Journal Article
Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish
Tang, Vivian, Cofer, Zenobia C., Cui, Shuang, Sapp, Valerie, Loomes, Kathleen M., Matthews, Randolph P.
Published in Journal of pediatric gastroenterology and nutrition (01.11.2016)
Published in Journal of pediatric gastroenterology and nutrition (01.11.2016)
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Journal Article
Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia
Cofer, Zenobia C, Cui, Shuang, EauClaire, Steven F, Kim, Cecilia, Tobias, John W, Hakonarson, Hakon, Loomes, Kathleen M, Matthews, Randolph P
Published in PloS one (24.03.2016)
Published in PloS one (24.03.2016)
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Journal Article
Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development
High, Frances A, Lu, Min Min, Pear, Warren S, Loomes, Kathleen M, Kaestner, Klaus H, Epstein, Jonathan A
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2008)
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Journal Article
Oral Vancomycin, Ursodeoxycholic Acid, or No Therapy for Pediatric Primary Sclerosing Cholangitis: A Matched Analysis
Deneau, Mark R., Mack, Cara, Mogul, Douglas, Perito, Emily R., Valentino, Pamela L., Amir, Achiya Z., DiGuglielmo, Matthew, Draijer, Laura G., El‐Matary, Wael, Furuya, Katryn N., Gupta, Nitika, Hochberg, Jessica T., Horslen, Simon, Jensen, M. Kyle, Jonas, Maureen M., Kerkar, Nanda, Koot, Bart G.P., Laborda, Trevor J., Lee, Christine K., Loomes, Kathleen M., Martinez, Mercedes, Miethke, Alexander, Miloh, Tamir, Mohammad, Saeed, Ovchinsky, Nadia, Rao, Girish, Ricciuto, Amanda, Sathya, Pushpa, Schwarz, Kathleen B., Shah, Uzma, Singh, Ruchi, Vitola, Bernadette, Zizzo, Andréanne, Guthery, Stephen L.
Published in Hepatology (Baltimore, Md.) (01.03.2021)
Published in Hepatology (Baltimore, Md.) (01.03.2021)
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Journal Article
Indeterminate pediatric acute liver failure is uniquely characterized by a CD103+CD8+ T‐cell infiltrate
Chapin, Catherine A., Burn, Thomas, Meijome, Tomas, Loomes, Kathleen M., Melin‐Aldana, Hector, Kreiger, Portia A, Whitington, Peter F., Behrens, Edward M., Alonso, Estella M.
Published in Hepatology (Baltimore, Md.) (01.09.2018)
Published in Hepatology (Baltimore, Md.) (01.09.2018)
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Journal Article
Use of Corticosteroids After Hepatoportoenterostomy for Bile Drainage in Infants With Biliary Atresia: The START Randomized Clinical Trial
Bezerra, Jorge A, Spino, Cathie, Magee, John C, Shneider, Benjamin L, Rosenthal, Philip, Wang, Kasper S, Erlichman, Jessi, Haber, Barbara, Hertel, Paula M, Karpen, Saul J, Kerkar, Nanda, Loomes, Kathleen M, Molleston, Jean P, Murray, Karen F, Romero, Rene, Schwarz, Kathleen B, Shepherd, Ross, Suchy, Frederick J, Turmelle, Yumirle P, Whitington, Peter F, Moore, Jeffrey, Sherker, Averell H, Robuck, Patricia R, Sokol, Ronald J
Published in JAMA : the journal of the American Medical Association (07.05.2014)
Published in JAMA : the journal of the American Medical Association (07.05.2014)
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Journal Article
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
Gilbert, Melissa A., Keefer-Jacques, Ernest, Jadhav, Tanaya, Antfolk, Daniel, Ming, Qianqian, Valente, Nicolette, Shaw, Grace Tzun-Wen, Sottolano, Christopher J., Matwijec, Grace, Luca, Vincent C., Loomes, Kathleen M., Rajagopalan, Ramakrishnan, Hayeck, Tristan J., Spinner, Nancy B.
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Journal Article
Adenovirus is Not Detected in Liver Tissue From a Historical Multicenter Cohort of Children With Acute Liver Failure
Chapin, Catherine A., Diamond, Tamir, Harris, Rebecca M., Vaccaro, Olivia, Loomes, Kathleen M., Alonso, Estella M., Behrens, Edward M.
Published in Journal of pediatric gastroenterology and nutrition (01.09.2023)
Published in Journal of pediatric gastroenterology and nutrition (01.09.2023)
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Journal Article
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
Murali, Chaya N., Soler-Alfonso, Claudia, Loomes, Kathleen M., Shah, Amit A., Monteil, Danielle, Padilla, Carmencita D., Scaglia, Fernando, Ganetzky, Rebecca
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
NOTCH2 mutations in Alagille syndrome
Kamath, Binita Maya, Bauer, Robert C, Loomes, Kathleen M, Chao, Grace, Gerfen, Jennifer, Hutchinson, Anne, Hardikar, Winita, Hirschfield, Gideon, Jara, Paloma, Krantz, Ian D, Lapunzina, Pablo, Leonard, Laura, Ling, Simon, Ng, Vicky Lee, Hoang, Phuc Le, Piccoli, David A, Spinner, Nancy Bettina
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
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Journal Article
Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development
High, Frances A, Jain, Rajan, Stoller, Jason Z, Antonucci, Nicole B, Lu, Min Min, Loomes, Kathleen M, Kaestner, Klaus H, Pear, Warren S, Epstein, Jonathan A
Published in The Journal of clinical investigation (01.07.2009)
Published in The Journal of clinical investigation (01.07.2009)
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