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K

Kathleen M. Loomes

the children’s hospital of philadelphia and university of pennsylvania

49H-index
219Paper Count
6.3KCitation Count
Published Papers 84
Publication Date
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From supportive to targeted treatment strategies: the changing landscape of therapeutics in Alagille syndrome
errExpert Opinion on Therapeutic Targets
IF4.4
err2026-05-18
err0
errOAAI
errKavitha Anbarasu; Melissa A. Gilbert; Kathleen M. Loomes
errShare
errSave
CD8 TRM-like T cells expressing perforin and IFN-γ define a pediatric activated T-cell acute liver failure endotype
errHepatology Communications
IF4.6
err2026-03-31
err0
errOAAI
errDiamond, Tamir; Chapin, Catherine A.; Diorio, Caroline J.; McCuaig, Sarah; Lau, Michelle; Chu, Niansheng; Gibson, Nora M.; Kreiger, Portia A.; Horslen, Simon; Loomes, Kathleen M.; Banc-Husu, Anna M.; Chu, Jaime; Jensen, M. Kyle; Leung, Daniel H.; Narang, Amrita; Carter, Beth A.; Elisofon, Scott; Fischer, Ryan; Lobritto, Steven J.; Leonis, Mike; Peters, Anna L.; Rodriguez-Baez, Norberto; Romero, Rene; Rosenthal, Philip; Rudnick, David; Squires, James; Sundaram, Shikha; Tolliver, Kyla M.; Valentino, Pamela; Durkalski, Valerie; Alonso, Estella M.; Behrens, Edward M.
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Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group
errLIVER INTERNATIONAL
IF5.2
err2025-11-18
err0
errOAAI
errPerez, Carla Fiorella Murillo; Vandriel, Shannon M.; Gonzales, Emmanuel M.; Wang, Jian- She; Li, Li- Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-miedzinska, Dorota; Jacquemin, Emmanuel; Bouligand, Jerome; D'antiga, Lorenzo; Nicastro, Emanuele; Fischler, Bjorn; Arnell, Henrik; Siew, Susan M.; Stormon, Michael; Loomes, Kathleen M.; Piccoli, David A.; Rand, Elizabeth B.; Squires, James E.; Karpen, Saul J.; Romero, Rene; Kasahara, Mureo; Onal, Zerrin; Sokal, Etienne; Demaret, Tanguy; Wiecek, Sabina; Lacaille, Florence; Debray, Dominique; Hardikar, Winita; Shankar, Sahana; Valentino, Pamela L.; Sundaram, Shikha S.; Ebel, Noelle H.; Feinstein, Jeffrey A.; Waisbourd-zinman, Orith; Lin, Henry C.; Rock, Nathalie; Verkade, Henkjan J.; Jensen, M. Kyle; Jaramillo, Catalina; Kim, Kyung Mo; Oh, Seak Hee; Brecemiclj, Jernej; Alam, Seema; Indolfi, Giuseppe; Blondet, Niviann; Fawaz, Rima; Nastasio, Silvia; Calvo, Pier Luigi; Nebbia, Gabriella; Arikan, Cigdem; Larson-nath, Catherine; Zizzo, Andreanne N.; Sandahl, Thomas Damgaard; Tzivinikos, Christos; El-koofy, Nehal M.; Elmonem, Mohamed A.; Aqul, Amal A.; Karnsakul, Wikrom; Bulut, Pinar; Kerkar, Nanda; Wolters, Victorien M.; Roberts, Amin J.; Evans, Helen M.; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Kelly, Deirdre A.; Hartley, Jane; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T.; Bernabeu, Jesus Quintero; Quiros-Tejeira, Ruben E.; Ferreira, Cristina Targa; Carvalho, Elisa; Eshun, John; Zellos, Aglaia; Dezsofi, Antal; Pinto, Raquel Borges; Schwarz, Kathleen; Rogalidou, Maria; Garcia, Jennifer; Tamara, Maria Legarda; Beretta, Marisa; Mujawar, Quais; Santos-Silva, Ermelinda; Busoms, Cristina Molera; Lurz, Eberhard; Goncalves, Cristina; Jimenez-Rivera, Carolina; Banales, Jesus M.; Thompson, Richard J.; Hansen, Bettina E.; Kamath, Binita M.
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Real-World Outcomes of Delandistrogene Moxeparvovec Gene Therapy: Motor Outcomes and Emerging Safety Concerns
errMolecular Therapy
IF12
err2025-10-04
err0
PREAI
errDennis J. Keselman; Juliana C. Small; Tiffany Seneviratne; Sarah McCague; Taylor L. Kaschak; Sabrina W. Yum; Andrea O’Brien; John F. Brandsema; Tamir Diamond; Kathleen M. Loomes; Kimberly Y. Lin; Carol A. Wittlieb-Weber; Oscar H. Mayer; Scott G. Daniel; Amy T. Waldman; Benjamin J. Samelson-Jones; Susan E. Matesanz; Lindsey A. George
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errSave
Prospective Multicenter Longitudinal Measurement of Liver Stiffness in School-Age Children With Cholestatic Liver Disease
errGastro Hep Advances
IF0
err2025-10-01
err0
errOAAI
errShneider, Benjamin L.; Goodrich, Nathan P.; Ye, Wen; Molleston, Jean P.; Leung, Daniel H.; Sokol, Ronald J.; Cavallo, Laurel; Wang, Kasper; Valentino, Pamela L.; Teckman, Jeffery H.; Squires, James E.; Sundaram, Shikha S.; Rosenthal, Philip; Romero, Rene; Miethke, Alexander G.; Loomes, Kathleen M.; Kohli, Rohit; Karpen, Saul J.; Kamath, Binita M.; Jensen, M. Kyle; Bezerra, Jorge A.; Bass, Lee M.; Magee, John C.
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errSave
Plasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition
errHepatology Communications
IF4.6
err2025-09-29
err0
errOAAI
errShneider, Benjamin L.; Kanchi, Rupa S.; Grimm, Sandra L.; Devaraj, Sridevi; Emamaullee, Juliet; Schraw, Jeremy; Lupo, Philip J.; Bezerra, Jorge A.; Loomes, Kathleen M.; Magee, John C.; Sokol, Ronald J.; Wang, Kasper S.; Kriegmeier, Alyssa; Hsu, Evelyn; Molleston, Jean P.; Rosenthal, Philip; Kohli, Rohit; Karpen, Saul J.; Horslen, Simon P.; Jensen, M. Kyle; Barbetta, Arianna; Coarfa, Cristian; on behalf of the Childhood Liver Disease Research Network
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Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines
errLiver International
IF5.2
err2025-07-31
err0
errOAAI
errShannon M. Vandriel; Li-Ting Li; Huiyu She; Jian-She Wang; Kathleen M. Loomes; David A. Piccoli; Irena Jankowska; Piotr Czubkowski; Dorota Gliwicz-Miedzińska; Lorenzo D'Antiga; Emanuele Nicastro; Florence Lacaille; Dominique Debray; Étienne M. Sokal; Tanguy Demaret; Rima L. Fawaz; Silvia Nastasio; Kyung Mo Kim; Seak Hee Oh; Björn Fischler; Henrik Arnell; Catherine Larson-Nath; Winita Hardikar; Sahana Shankar; Shikha S. Sundaram; Alexander Chaidez; Pinar Bulut; Pier Luigi Calvo; Mureo Kasahara; Niviann Blondet; Eberhard Lurz; Anna-Maria Kavallar; Emmanuel M. Gonzales; Emmanuel Jacquemin; Jérôme Bouligand; Noelle H. Ebel; Jeffrey A. Feinstein; Susan M. Siew; Michael O. Stormon; Saul J. Karpen; Rene Romero; M. Kyle Jensen; Catalina Jaramillo; James E. Squires; Sarah M. Bedoyan; Deirdre A. Kelly; Jane Hartley; Henkjan J. Verkade; Way Seah Lee; Chatmanee Lertudomphonwanit; Ryan T. Fischer; Henry C. Lin; Nathalie Rock; Yael Mozer-Glassberg; Amin J. Roberts; Helen M. Evans; Wikrom Karnsakul; Gabriella Nebbia; Victorien M. Wolters; Pamela L. Valentino; Jesus Quintero Bernabeu; Amal A. Aqul; Cigdem Arikan; María Legarda Tamara; Cristina Molera Busoms; Thomas Damgaard Sandahl; Giuseppe Indolfi; Andréanne N. Zizzo; Aglaia Zellos; Ruben E. Quiros-Tejeira; Ermelinda Santos-Silva; Kathleen B. Schwarz; Jernej Brecelj; Maria Camila Sanchez; Maria Lorena Cavalieri; Christos Tzivinikos; Sabina Wiecek; John Eshun; Nanda Kerkar; Quais Mujawar; Zerrin Önal; Cristina Gonçalves; Jennifer Garcia; Seema Alam; Carolina Jimenez-Rivera; Luis Bujanda; Richard J. Thompson; Bettina E. Hansen; Nancy B. Spinner; Melissa A. Gilbert; Binita M. Kamath; The Global ALagille Alliance (GALA) Study Group
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Increased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage
errPEDIATRIC RESEARCH
IF3.1
err2025-01-29
err0
PREAI
errTaylor, Sarah A.; Harpavat, Sanjiv; Gromer, Kyle D.; Andreev, Victor; Loomes, Kathleen M.; Bezerra, Jorge A.; Jarasvaraparn, Chaowapong; Wang, Kasper; Horslen, Simon; Rosenthal, Philip; Teckman, Jeffrey; Valentino, Pamela L.; Ng, Vicky L.; Karpen, Saul J.; Sokol, Ronald J.; Alonso, Estella M.; Mack, Cara L.
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errSave
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-10-01
err0
errOAAI
errKeefer-Jacques, Ernest; Valente, Nicolette; Jacko, Anastasia M.; Matwijec, Grace; Reese, Apsara; Tekriwal, Aarna; Loomes, Kathleen M.; Spinner, Nancy B.; Gilbert, Melissa A.
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errSave
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err2
errOAAI
errGilbert, 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.
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errSave
Oral vancomycin is associated with improved inflammatory bowel disease clinical outcomes in primary sclerosing cholangitis-associated inflammatory bowel disease (PSC-IBD): A matched analysis from the Paediatric PSC Consortium
errALIMENTARY PHARMACOLOGY & THERAPEUTICS
IF6.7
err2024-03-10
err13
PREAI
errRicciuto, Amanda; Liu, Kuan; El-Matary, Wael; Amin, Mansi; Amir, Achiya Z.; Aumar, Madeleine; Auth, Marcus; Di Guglielmo, Matthew D.; Druve Tavares Fagundes, Eleonora; Rodrigues Ferreira, Alexandre; Furuya, Katryn N.; Gupta, Nitika; Guthery, Stephen; Horslen, Simon P.; Jensen, Kyle; Kamath, Binita M.; Kerkar, Nanda; Koot, B. G. P.; Laborda, Trevor J.; Lee, Christine K.; Loomes, Kathleen M.; Mack, Cara; Martinez, Mercedes; Montano-Loza, Aldo; Ovchinsky, Nadia; Papadopoulou, Alexandra; Perito, Emily R.; Sathya, Pushpa; Schwarz, Kathleen B.; Shah, Uzma; Shteyer, Eyal; Soufi, Nisreen; Stevens, James Patrick; Taylor, Amy; Tessier, M. Elizabeth; Valentino, Pamela; Woynarowski, Marek; Deneau, Mark
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errSave
Diagnostic accuracy of serum matrix metalloproteinase-7 as a biomarker of biliary atresia in a large North American cohort
errHEPATOLOGY
IF15.8
err2024-03-06
err5
errOAAI
errPandurangi, Sindhu; Mourya, Reena; Nalluri, Shreya; Fei, Lin; Dong, Shun; Harpavat, Sanjiv; Guthery, Stephen L.; Molleston, Jean P.; Rosenthal, Philip; Sokol, Ronald J.; Wang, Kasper S.; Ng, Vicky; Alonso, Estella M.; Hsu, Evelyn K.; Karpen, Saul J.; Loomes, Kathleen M.; Magee, John C.; Shneider, Benjamin L.; Horslen, Simon P.; Teckman, Jeffrey H.; Bezerra, Jorge A.
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errSave
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2024-01-01
err7
PREAI
errVan Hove, Johan L. K.; Friederich, Marisa W.; Strode, Dana K.; Van Hove, Roxanne A.; Miller, Kristen R.; Sharma, Rohit; Shah, Hardik; Estrella, Jane; Gabel, Linda; Horslen, Simon; Kohli, Rohit; Lovell, Mark A.; Miethke, Alexander G.; Molleston, Jean P.; Romero, Rene; Squires, James E.; Alonso, Estella M.; Guthery, Stephen L.; Kamath, Binita M.; Loomes, Kathleen M.; Rosenthal, Philip; Mysore, Krupa R.; Cavallo, Laurel A.; Valentino, Pamela L.; Magee, John C.; Sundaram, Shikha S.; Sokol, Ronald J.
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errSave
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
errHEPATOLOGY
IF15.8
err2023-12-25
err11
errOAAI
errHansen, Bettina E.; Vandriel, Shannon M.; Vig, Pamela; Garner, Will; Mogul, Douglas B.; Loomes, Kathleen M.; Piccoli, David A.; Rand, Elizabeth B.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; D'Antiga, Lorenzo; Nicastro, Emanuele; Arnell, Henrik; Fischler, Bjorn; Sokal, Etienne; Demaret, Tanguy; Siew, Susan; Stormon, Michael; Karpen, Saul J.; Romero, Rene; Ebel, Noelle H.; Feinstein, Jeffrey A.; Roberts, Amin J.; Evans, Helen M.; Sundaram, Shikha S.; Chaidez, Alexander; Hardikar, Winita; Shankar, Sahana; Fischer, Ryan T.; Lacaille, Florence; Debray, Dominique; Lin, Henry C.; Jensen, M. Kyle; Jaramillo, Catalina; Karthikeyan, Palaniswamy; Indolfi, Giuseppe; Verkade, Henkjan J.; Larson-Nath, Catherine; Quiros-Tejeira, Ruben E.; Valentino, Pamela L.; Rogalidou, Maria; Dezsofi, Antal; Squires, James E.; Schwarz, Kathleen; Calvo, Pier Luigi; Bernabeu, Jesus Quintero; Zizzo, Andreanne N.; Nebbia, Gabriella; Bulut, Pinar; Santos-Silva, Ermelinda; Fawaz, Rima; Nastasio, Silvia; Karnsakul, Wikrom; Tamara, Maria Legarda; Busoms, Cristina Molera; Kelly, Deirdre A.; Sandahl, Thomas Damgaard; Jimenez-Rivera, Carolina; Banales, Jesus M.; Mujawar, Quais; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Kim, Kyung Mo; Oh, Seak Hee; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Waisbourd-Zinman, Orith; Arikan, Cigdem; Alam, Seema; Carvalho, Elisa; Melere, Melina; Eshun, John; Onal, Zerrin; Desai, Dev M.; Wiecek, Sabina; Pinto, Raquel Borges; Wolters, Victorien M.; Garcia, Jennifer; Beretta, Marisa; Kerkar, Nanda; Brecelj, Jernej; Rock, Nathalie; Lurz, Eberhard; Blondet, Niviann; Shah, Uzma; Thompson, Richard J.; Kamath, Binita M.
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errSave
Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2023-12-01
err2
errOAAI
errTeckman, Jeffrey; Rosenthal, Philip; Ignacio, Rosalinda V.; Spino, Cathie; Bass, Lee M.; Horslen, Simon; Wang, Kasper; Magee, John C.; Karpen, Saul; Asai, Akihiro; Molleston, Jean P.; Squires, Robert H.; Kamath, Binita M.; Guthery, Stephen L.; Loomes, Kathleen M.; Shneider, Benjamin L.; Sokol, Ronald J.
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errSave
Sarcopenia is associated with osteopenia and impaired quality of life in children with genetic intrahepatic cholestatic liver disease
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2023-11-01
err4
errOAAI
errBoster, Julia M.; Goodrich, Nathan P.; Spino, Cathie; Loomes, Kathleen M.; Alonso, Estella M.; Kamath, Binita M.; Sokol, Ronald J.; Karpen, Saul; Miethke, Alexander; Shneider, Benjamin L.; Molleston, Jean P.; Kohli, Rohit; Horslen, Simon P.; Rosenthal, Philip; Valentino, Pamela L.; Teckman, Jeffrey H.; Hangartner, Thomas N.; Sundaram, Shikha S.
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Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis
errJHEP REPORTS
IF7.5
err2023-08-01
err12
errOAAI
errThompson, Richard J.; Artan, Reha; Baumann, Ulrich; Calvo, Pier Luigi; Czubkowski, Piotr; Dalgic, Buket; D'Antiga, Lorenzo; Di Giorgio, Angelo; Durmaz, Ozlem; Gonzales, Emmanuel; Grammatikopoulos, Tassos; Gupte, Girish; Hardikar, Winita; Houwen, Roderick H. J.; Kamath, Binita M.; Karpen, Saul J.; Lacaille, Florence; Lachaux, Alain; Lainka, Elke; Loomes, Kathleen M.; Mack, Cara L.; Mattsson, Jan P.; Mckiernan, Patrick; Ni, Quanhong; Ozen, Hasan; Rajwal, Sanjay R.; Roquelaure, Bertrand; Shteyer, Eyal; Sokal, Etienne; Sokol, Ronald J.; Soufi, Nisreen; Sturm, Ekkehard; Tessier, Mary Elizabeth; van der Woerd, Wendy L.; Verkade, Henkjan J.; Vittorio, Jennifer M.; Wallefors, Terese; Warholic, Natalie; Yu, Qifeng; Horn, Patrick; Kjems, Lise
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Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2023-06-01
err7
errOAAI
errSquires, James E.; Miethke, Alexander G.; Valencia, C. Alexander; Hawthorne, Kieran; Henn, Lisa; Van Hove, Johan L. K. H.; Squires, Robert; Bove, Kevin; Horslen, Simon; Kohli, Rohit; Molleston, Jean P.; Romero, Rene; Alonso, Estella M.; Bezerra, Jorge A.; Guthery, Stephen L.; Hsu, Evelyn; Karpen, Saul J.; Loomes, Kathleen M.; Ng, Vicky L.; Rosenthal, Philip; Mysore, Krupa; Wang, Kasper S.; Friederich, Marisa W.; Magee, John C.; Sokol, Ronald J.
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errSave
A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-27
err63
errOAAI
errChoi, JD; Underkoffler, LA; Wood, AJ; Collins, JN; Williams, PT; Golden, JA; Schuster, EF; Loomes, KM; Oakey, RJ
errShare
errSave
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
errJHEP REPORTS
IF7.5
err2023-02-01
err5
errOAAI
errFelzen, 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; Fischler, Bjoern; Hulscher, Jan B. F.; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Bartolo, Gema Munoz; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Ozlem; Kerkar, Nanda; Jorgensen, Marianne Horby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordonez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J.
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Research Directions

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