Kathleen M. Loomes, MD

Papers

2024

Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun 8: e0361, Jan 2024.

2023

Leung DH, Devaraj S, Goodrich NP, Chen X, Rajapakshe D, Ye W, Andreev V, Minard CG, Guffey D, Molleston JP, Bass LM, Karpen SJ, Kamath BM, Wang KS, Sundaram SS, Rosenthal P, McKiernan P, Loomes KM, Jensen MK, Horslen SP, Bezerra JA, Magee JC, Merion RM, Sokol RJ, Shneider BL, Alonso E, Bass L, Kelly S, Riordan M, Melin-Aldana H, Bezerra J, Bove K, Heubi J, Miethke A, Tiao G, Denlinger J, Chapman E, Sokol R, Feldman A, Mack C, Narkewicz M, Suchy F, Sundaram SS, Van Hove J, Garcia B, Kauma M, Kocher K, Steinbeiss M, Lovell M, Loomes KM, Piccoli D, Rand E, Russo P, Spinner N, Erlichman J, Stalford S, Pakstis D, King S, Squires R, Sindhi R, Venkat V, Bukauskas K, McKiernan P, Haberstroh L, Squires J, Rosenthal P, Bull L, Curry J, Langlois C, Kim G, Teckman J, Kociela V, Nagy R, Patel S, Cerkoski J, Molleston JP, Bozic M, Subbarao G, Klipsch A, Sawyers C, Cummings O, Horslen SP, Murray K, Hsu E, Cooper K, Young M, Finn L, Kamath BM, Ng V, Quammie C, Putra J, Sharma D, Parmar A, Guthery S, Jensen K, Rutherford A, Lowichik A, Book L, Meyers R, Hall T, et al.: Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. Hepatology 77: 530-545, Feb 2023.

Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-MiedziÅ„ska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, DezsÅ‘fi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM; Global ALagille Alliance (GALA) Study Group.: Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology 77: 512-529, Feb 2023.

Harpavat S, Hawthorne K, Setchell KDR, Rivas MN, Henn L, Beil CA, Karpen SJ, Ng VL, Alonso EM, Bezerra JA, Guthery SL, Horslen S, Loomes KM, McKiernan P, Magee JC, Merion RM, Molleston JP, Rosenthal P, Thompson RJ, Wang KS, Sokol RJ, Shneider BL; for Childhood Liver Disease Research Network (ChiLDReN).: Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy. Hepatology 77: 862-873, Mar 2023.

Thompson RJ, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Di Giorgio A, Durmaz Ö, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Lacaille F, Lachaux A, Lainka E, Loomes KM, Mack CL, Mattsson JP, McKiernan P, Ni Q, Özen H, Rajwal SR, Roquelaure B, Shteyer E, Sokal E, Sokol RJ, Soufi N, Sturm E, Tessier ME, van der Woerd WL, Verkade HJ, Vittorio JM, Wallefors T, Warholic N, Yu Q, Horn P, Kjems L.: Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis. JHEP Rep 5: 100782, Apr 2023.

Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children. Hepatol Commun 7: e0139, May 2023.

Chapin CA, Burn TM, Diamond T, Loomes KM, Alonso EM, Behrens EM.: Effector memory CD8 T-cells as a novel peripheral blood biomarker for activated T-cell pediatric acute liver failure. PLoS One 18: e0286394, Jun 2023.

Chapin CA, Diamond T, Harris RM, Vaccaro O, Loomes KM, Alonso EM, Behrens EM.: Adenovirus is Not Detected in Liver Tissue From a Historical Multicenter Cohort of Children With Acute Liver Failure. J Pediatr Gastroenterol Nutr 77: 393-395, Sep 2023.

Boster JM, Goodrich NP, Spino C, Loomes KM, Alonso EM, Kamath BM, Sokol RJ, Karpen S, Miethke A, Shneider BL, Molleston JP, Kohli R, Horslen SP, Rosenthal P, Valentino PL, Teckman JH, Hangartner TN, Sundaram SS; Childhood Liver Disease Research Network (ChiLDReN).: Sarcopenia is associated with osteopenia and impaired quality of life in children with genetic intrahepatic cholestatic liver disease. Hepatol Commun 7: e0293, Oct 2023.

Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-MiedziÅ„ska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal É, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, DezsÅ‘fi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly D, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, Önal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, Kamath BM; Global ALagille Alliance (GALA) Study Group.: Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology Dec 2023.

Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID.: Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A 2023.

Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC.: A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Am J Med Genet A 2023.

Teckman J, Rosenthal P, Ignacio RV, Spino C, Bass LM, Horslen S, Wang K, Magee JC, Karpen S, Asai A, Molleston JP, Squires RH, Kamath BM, Guthery SL, Loomes KM, Shneider BL, Sokol RJ; ChiLDReN (Childhood Liver Disease Research Network).: Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance. Hepatol Commun 7: e0345, Dec 2023.

2022

Leung DH, Sorensen LG, Ye W, Hawthorne K, Ng VL, Loomes KM, Fredericks EM, Alonso EM, Heubi JE, Horslen SP, Karpen SJ, Molleston JP, Rosenthal P, Sokol RJ, Squires RH, Wang KS, Kamath BM, Magee JC; Childhood Liver Disease Research Network (ChiLDReN).: Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver. J Pediatr Gastroenterol Nutr 74: 96-103, Jan 2022.

Loomes KM, Squires RH, Kelly D, Rajwal S, Soufi N, Lachaux A, Jankowska I, Mack C, Setchell KDR, Karthikeyan P, Kennedy C, Dorenbaum A, Desai NK, Garner W, Jaecklin T, Vig P, Miethke A, Thompson RJ.: Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study. Hepatol Commun May 2022.

Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, LipiÅ„ski P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, DezsÅ‘fi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium.: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency. JHEP Rep 5: 100626, Nov 2022.

Bass LM, Ye W, Hawthorne K, Leung DH, Murray KF, Molleston JP, Romero R, Karpen S, Rosenthal P, Loomes KM, Wang KS, Squires RH, Miethke A, Ng VL, Horslen S, Kyle Jensen M, Sokol RJ, Magee JC, Shneider BL; ChiLDReN.: Risk of variceal hemorrhage and pretransplant mortality in children with biliary atresia. Hepatology 2022.

Shneider BL, Kamath BM, Magee JC, Goodrich NP, Loomes KM, Ye W, Spino C, Alonso EM, Molleston JP, Bezerra JA, Wang KS, Karpen SJ, Horslen SP, Guthery SL, Rosenthal P, Squires RH, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome. Hepatol Commun 2022.

Shneider BL, Spino CA, Kamath BM, Magee JC, Ignacio RV, Huang S, Horslen SP, Molleston JP, Miethke AG, Kohli R, Leung DH, Jensen MK, Loomes KM, Karpen SJ, Mack C, Rosenthal P, Squires RH, Baker A, Rajwal S, Kelly D, Sokol RJ, Thompson RJ; for ChiLDReN and UK IMAGO/IMAGINE Investigators.: Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome. Hepatol Commun 2022.

2021

Chapin CA, Taylor SA, Malladi P, Neighbors K, Melin-Aldana H, Kreiger PA, Bowsher N, Schipma MJ, Loomes KM, Behrens EM, Alonso EM.: Transcriptional Analysis of Liver Tissue Identifies Distinct Phenotypes of Indeterminate Pediatric Acute Liver Failure. Hepatol Commun 5: 1373-1384, May 2021.

Martinez M, Perito ER, Valentino P, Mack CL, Aumar M, Broderick A, Draijer LG, Fagundes EDT, Furuya KN, Gupta N, Horslen S, Jonas MM, Kamath BM, Kerkar N, Kim KM, Kolho KL, Koot BG, Laborda TJ, Lee CK, Loomes KM, Miloh T, Mogul D, Mohammed S, Ovchinsky N, Rao G, Ricciuto A, Schwarz KB, Smolka V, Tanaka A, Tessier MEM, Venkat VL, Vitola BE, Woynarowski M, Zerofsky M, Deneau MR.: Recurrence of primary sclerosing cholangitis after liver transplant in children: an international observational study. Hepatology May 2021.

Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN).: Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. J Pediatr Gastroenterol Nutr 73: 169-177, Aug 2021.

Hertel PM, Hawthorne K, Kim S, Finegold MJ, Shneider BL, Squires JE, Gupta NA, Bull LN, Murray KF, Kerkar N, Ng VL, Molleston JP, Bezerra JA, Loomes KM, Taylor SA, Schwarz KB, Turmelle YP, Rosenthal P, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Presentation and Outcomes of Infants with Idiopathic Cholestasis: A Multi-Center Prospective Study. J Pediatr Gastroenterol Nutr 73: 478-484, Aug 2021.

Clarkston K, Lee J, Donoghue S, Peters H, Eiroa H, Shah AA, Loomes K, Wen J, Oliver M, Hardikar W, Prada CE, Asai A.: Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females. Am J Med Genet A 2021.

Deneau MR, Mack C, Mogul D, Perito ER, Valentino PL, Amir AZ, DiGuglielmo M, Draijer LG, El-Matary W, Furuya KN, Gupta N, Hochberg JT, Horslen S, Jensen MK, Jonas MM, Kerkar N, Koot BGP, Laborda TJ, Lee CK, Loomes KM, Martinez M, Miethke A, Miloh T, Mohammad S, Ovchinsky N, Rao G, Ricciuto A, Sathya P, Schwarz KB, Shah U, Singh R, Vitola B, Zizzo A, Guthery SL.: Oral Vancomycin, Ursodeoxycholic Acid, or No Therapy for Pediatric Primary Sclerosing Cholangitis: A Matched Analysis. Hepatology 2021.

Deneau MR, Mack C, Perito ER, Ricciuto A, Valentino PL, Amin M, Amir AZ, Aumar M, Auth M, Broderick A, DiGuglielmo M, Draijer LG, Tavares Fagundes ED, El-Matary W, Ferrari F, Furuya KN, Gupta N, Hochberg JT, Homan M, Horslen S, Iorio R, Jensen MK, Jonas MM, Kamath BM, Kerkar N, Kim KM, Kolho KL, Koot BGP, Laborda TJ, Lee CK, Loomes KM, Martinez M, Miethke A, Miloh T, Mogul D, Mohammad S, Mohan P, Moroz S, Ovchinsky N, Palle S, Papadopoulou A, Rao G, Rodrigues Ferreira A, Sathya P, Schwarz KB, Shah U, Shteyer E, Singh R, Smolka V, Soufi N, Tanaka A, Varier R, Vitola B, Woynarowski M, Zerofsky M, Zizzo A, Guthery SL.: The Sclerosing Cholangitis Outcomes in Pediatrics (SCOPE) Index: A Prognostic Tool for Children. Hepatology 2021.

El-Matary W, Guthery SL, Amir AZ, DiGuglielmo M, Draijer LG, Furuya KN, Gupta N, Hochberg JT, Horslen S, Kerkar N, Koot BGP, Laborda TJ, Loomes KM, Mack C, Martinez M, Miethke A, Miloh T, Mogul D, Mohammed S, Moroz S, Ovchinsky N, Perito ER, Rao G, Ricciuto A, Sathya P, Schwarz KB, Shah U, Singh R, Soufi N, Valentino PL, Zizzo A, Deneau MR.: Colorectal Dysplasia and Cancer in Pediatric-Onset Ulcerative Colitis Associated With Primary Sclerosing Cholangitis. Clin Gastroenterol Hepatol 2021.

Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R.: TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab 2021.

Neese JM, Yum S, Matesanz S, Raffini LJ, Whitworth HB, Loomes KM, Mayer OH, Alcamo AM.: Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy. Neuromuscul Disord 2021.

Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB.: Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. Genet Med 2021.

Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, Loomes KM.: Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes. Am J Med Genet A 2021.

Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H.: A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Am J Med Genet A 2021.

van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, LipiÅ„ski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, DezsÅ‘fi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium.: Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. Hepatology 2021.

2020

Kamath BM, Ye W, Goodrich NP, Loomes KM, Romero R, Heubi JE, Leung DH, Spinner NB, Piccoli DA, Alonso EM, Guthery SL, Karpen SJ, Mack CL, Molleston JP, Murray KF, Rosenthal P, Squires JE, Teckman J, Wang KS, Thompson R, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study. Hepatol Commun 4: 387-398, Jan 2020.

Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner NB,Devoto M: Exome Sequencing in Individuals with Isolated Biliary Atresia. Scientific Reports 10(1): 2709, Feb 2020.

Kamath BM, Spino C, McLain R, Magee JC, Fredericks EM, Setchell KD, MiethkeA, Molleston JP, Mack CL, Squires RH, Alonso EM, Murray KF, Loomes KM, KyleJensen M, Karpen SJ, Rosenthal P, Thomas D, Sokol RJ, Shneider BL; ChildhoodLiver Disease Research Network (ChiLDReN). : Unraveling the Relationship Between Itching, Scratch Scales, and Biomarkers in Children With Alagille Syndrome. Hepatology Communications 26(4), May 2020.

Kamath BM, Spino C, McLain R, Magee JC, Fredericks EM, Setchell KD, Miethke A, Molleston JP, Mack CL, Squires RH, Alonso EM, Murray KF, Loomes KM, Kyle Jensen M, Karpen SJ, Rosenthal P, Thomas D, Sokol RJ, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN).: Unraveling the Relationship Between Itching, Scratch Scales, and Biomarkers in Children With Alagille Syndrome. Hepatol Commun 4: 1012-1018, May 2020.

Robson J, Lusman SS, Lee CK, Merves J, Middleton J, Perez ME, Desai NK, SayejW, Sivagnanam M, Solomon AB, Colombo JM, Rosen JM, Van Buren KW, Brown JB,Turmelle YP, Cerezo CS, Loomes KM, Huang JS, Quiros-Tejeira RE, Benkov K,Leichtner A, Narkewicz MR, Weinstein T, Sauer CG: Pediatric Gastroenterology,Hepatology, and Nutrition Entrustable Professional Activities: Development of an Assessment Tool and Curricular Resources J Pediatr Gastroenterol Nutr 71(1), Jul 2020.

Sauer CG, Robson J, Turmelle YP, Cerezo CS, Loomes KM, Huang JS, Quiros-Tejeira RE, Benkov KJ, Narkewicz MR, Leichtner A, Weinstein T. : North AmericanSociety for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on Entrustable Professional Activities: Development of PediatricGastroenterology, Hepatology, and Nutrition Entrustable Professional Activities J Pediatr Gastroenterol Nutr 71(1), Jul 2020.

Shiau H, Guffey D, Loomes KM, Seidman C, Ragozzino E, Molleston JP, Schady D, Leung DH.: Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis. Hepatol Commun 4: 1516-1526, Aug 2020.

Shneider BL, Goodrich NP, Ye W, Sawyers C, Molleston JP, Merion RM, Leung DH, Karpen SJ, Kamath BM, Cavallo L, Wang K, Teckman JH, Squires JE, Sundaram SS, Rosenthal P, Romero R, Murray KF, Loomes KM, Jensen MK, Bezerra JA, Bass LM, Sokol RJ, Magee JC; Childhood Liver Disease Research Network (ChiLDReN).: Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease. Hepatol Commun 4: 1694-1707, Aug 2020.

Venkat V, Ng VL, Magee JC, Ye W, Hawthorne K, Harpavat S, Molleston JP, Murray KF, Wang KS, Soufi N, Bass LM, Alonso EM, Bezerra JA, Jensen MK, Kamath BM, Loomes KM, Mack CL, Rosenthal P, Shneider BL, Squires RH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network.: Modeling Outcomes in Children With Biliary Atresia With Native Liver After 2 Years of Age. Hepatol Commun 4: 1824-1834, Oct 2020.

Chapin CA, Melin-Aldana H, Kreiger PA, Burn T, Neighbors K, Taylor SA, Ostilla L, Wechsler JB, Horslen SP, Leonis MA, Loomes KM, Behrens EM, Squires RH, Alonso EM; Pediatric Acute Liver Failure Study Group.: Activated CD8 T-cell Hepatitis in Children With Indeterminate Acute Liver Failure: Results From a Multicenter Cohort. J Pediatr Gastroenterol Nutr 2020.

Deneau MR, Mack C, Perito ER, Ricciuto A, Valentino PL, Amin M, Amir AZ,Aumar M, Auth M, Broderick A, DiGuglielmo M, Draijer LG, Tavares Fagundes ED,El-Matary W, Ferrari F, Furuya KN, Gupta N, Hochberg JT, Homan M, Horslen S,Iorio R, Jensen MK, Jonas MM, Kamath BM, Kerkar N, Kim KM, Kolho KL, Koot BG,Laborda TJ, Lee CK, Loomes KM, Martinez M, Miethke A, Miloh T, Mogul D, Mohammed S, Mohan P, Moroz S, Ovchinsky N, Palle S, Papadopoulou A, Rao G, Rodrigues Ferreira A, Sathya P, Schwarz KB, Shah U, Shteyer E, Singh R, Smolka V, Soufi N, Tanaka A, Varier R, Vitola B, Woynarowski M, Zerofsky M, Zizzo A, Guthery SL: The Sclerosing Cholangitis Outcomes in Pediatrics (SCOPE) index: a prognostictool for children Hepatology 2020 Notes: In Press.

El-Matary W, Guthery SL, Amir AZ, DiGuglielmo M, Draijer LG, Furuya KN, GuptaN, Hochberg JT, Horslen S, Kerkar N, Koot BGP, Laborda TJ, Loomes KM, Mack C,Martinez M, Miethke A, Miloh T, Mogul D, Mohammed S, Moroz S, Ovchinsky N,Perito ER, Rao G, Ricciuto A, Sathya P, Schwarz KB, Shah U, Singh R, Soufi N,Valentino PL, Zizzo A, Deneau MR: Colorectal Dysplasia and Cancer in Pediatric-Onset Ulcerative Colitis Associated With Primary Sclerosing Cholangitis Clin Gastroenterol Hepatol 2020 Notes: In Press.

Kindler JM, Mitchell EL, Piccoli DA, Grimberg A, Leonard MB, Loomes KM, Zemel BS.: Bone geometry and microarchitecture deficits in children with Alagille syndrome. Bone 2020.

Laborda TJ, Ricciuto A, Aumar M, Carman N, DiGuglielmo M, Draijer LG, Furuya KN, Gupta N, Koot BGP, Loomes KM, Lytvyak E, Martinez M, Miloh T, Montano-Loza AJ, Perito ER, Sathya P, Shah U, Shteyer E, Singh R, Taylor A, Valentino PL, Vitola B, Zerofsky M, Zizzo A, Deneau MR.: Vedolizumab Therapy in Children With Primary Sclerosing Cholangitis: Data From the Pediatric Primary Sclerosing Cholangitis Consortium. J Pediatr Gastroenterol Nutr 2020.

Robson J, Lusman SS, Lee CK, Merves J, Middleton J, Perez ME, Desai NK, Sayej W, Sivagnanam M, Solomon AB, Colombo JM, Rosen JM, Van Buren KW, Brown JB, Turmelle YP, Cerezo CS, Loomes KM, Huang JS, Quiros-Tejeira RE, Benkov K, Leichtner A, Narkewicz MR, Weinstein T, Sauer CG.: Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities: Development of an Assessment Tool and Curricular Resources. J Pediatr Gastroenterol Nutr 2020.

Sauer CG, Robson J, Turmelle YP, Cerezo CS, Loomes KM, Huang JS, Quiros-Tejeira RE, Benkov KJ, Narkewicz MR, Leichtner A, Weinstein T.: North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on Entrustable Professional Activities: Development of Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities. J Pediatr Gastroenterol Nutr 2020.

Teckman J, Rosenthal P, Hawthorne K, Spino C, Bass LM, Murray KF, Kerkar N, Magee JC, Karpen SJ, Heubi JE, Molleston JP, Squires RH, Kamath BM, Guthery SL, Loomes KM, Sherker AH, Sokol RJ: Longitudinal Outcomes in Young Patients with Alpha-1-Antitrypsin Deficiency with Native Liver Reveal that Neonatal Cholestasis is a Poor Predictor of Future Portal Hypertension. J Pediatr 2020 Notes: In Press.

Venkat V, Ng VL, Magee JC, Ye W, Hawthorne K, Harpavat S, Molleston JP, Murray KF, Wang KS, Soufi N, Bass LM, Alonso EM, Bezerra JA, Jensen MK, Kamath BM, Loomes KM, Mack CL, Rosenthal P, Shneider BL, Squires RH, Sokol RJ, Karpen SJ. : Modeling outcomes in children with biliary atresia with native liver after 2 years of age. Hepatology Communications 2020 Notes: In Press.

Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K,Mesaros C, Estrada MA, Blair I, Winkler JD, Spinner NB, Devoto M, Pack M: Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia Gastroenterology 2020 Notes: In press.

Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K, Mesaros C, Estrada MA, Blair IA, Winkler JD, Spinner NB, Devoto M, Pack M.: Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia. Gastroenterology 2020.

2019

Berauer John-Paul, Mezina Anya I, Okou David T, Sabo Aniko, Muzny Donna M, Gibbs Richard A, Hegde Madhuri R, Chopra Pankaj, Cutler David J, Perlmutter David H, Bull Laura N, Thompson Richard J, Loomes Kathleen M, Spinner Nancy B, Rajagopalan Ramakrishnan, Guthery Stephen L, Moore Barry, Yandell Mark, Harpavat Sanjiv, Magee John C, Kamath Binita M, Molleston Jean P, Bezerra Jorge A, Murray Karen F, Alonso Estella M, Rosenthal Philip, Squires Robert H, Wang Kasper S, Finegold Milton J, Russo Pierre, Sherker Averell H, Sokol Ronald J, Karpen Saul J: Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology (Baltimore, Md.) Jan 2019.

Loomes Kathleen M, Spino Cathie, Goodrich Nathan P, Hangartner Thomas N, Marker Amanda E, Heubi James E, Kamath Binita M, Shneider Benjamin L, Rosenthal Philip, Hertel Paula M, Karpen Saul J, Molleston Jean P, Murray Karen F, Schwarz Kathleen B, Squires Robert H, Teckman Jeffrey, Turmelle Yumirle P, Alonso Estella M, Sherker Averell H, Magee John C, Sokol Ronald J: Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis. Hepatology (Baltimore, Md.) 69(1): 245-257, Jan 2019.

Mack Cara L, Spino Cathie, Alonso Estella M, Bezerra Jorge A, Moore Jeffrey, Goodhue Catherine, Ng Vicky L, Karpen Saul J, Venkat Veena, Loomes Kathleen M, Wang Kasper, Sherker Averell H, Magee John C, Sokol Ronald J: A Phase I/IIa Trial of Intravenous Immunoglobulin Following Portoenterostomy in Biliary Atresia. Journal of pediatric gastroenterology and nutrition 68(4): 495-501, Apr 2019.

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: Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Human mutation Jul 2019.

Ng Vicky Lee, Mazariegos George V, Kelly Beau, Horslen Simon, McDiarmid Sue V, Magee John C, Loomes Kathleen M, Fischer Ryan T, Sundaram Shikha S, Lai Jennifer C, Te Helen S, Bucuvalas John C: Barriers to ideal outcomes after pediatric liver transplantation. Pediatric transplantation 23(6): e13537, Sep 2019.

2018

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: Indeterminate pediatric acute liver failure is uniquely characterized by a CD103+CD8+ T-cell infiltrate. Hepatology  68(3): 1087-1100, Mar 2018 Notes: In Press.

Mitchell E, Loomes KM, Squires RH, Goldberg D: Variability in Acceptance of Organ Offers by Pediatric Liver Transplant Centers and its Impact on Waitlist Mortality. Liver Transplantation 24(6): 803-09, June 2018.

Alonso Estella M, Ye Wen, Hawthorne Kieran, Venkat Veena, Loomes Kathleen M, Mack Cara L, Hertel Paula M, Karpen Saul J, Kerkar Nanda, Molleston Jean P, Murray Karen F, Romero Rene, Rosenthal Philip, Schwarz Kathleen B, Shneider Benjamin L, Suchy Frederick J, Turmelle Yumirle P, Wang Kasper S, Sherker Averell H, Sokol Ronald J, Bezerra Jorge A, Magee John C: Impact of Steroid Therapy on Early Growth in Infants with Biliary Atresia: The Multicenter Steroids in Biliary Atresia Randomized Trial. The Journal of pediatrics 202: 179-185.e4, 11 2018.

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: A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS genetics 14(8): e1007532, 08 2018.

Shneider BL, Spino C, Kamath BM, Magee JC, Bass LM, Setchell KD, Miethke A, Molleston JP, Mack CL, Squires RH, Murray KF, Loomes KM, Rosenthal P, Karpen SJ, Leung DH, Guthery SL, Thomas D, Sherker AH, Sokol RJ, for the Childhood Liver Disease Research Network (ChiLDReN): Placebo-controlled randomized trial of an intestinal bile salt transport inhibitor for pruritus in Alagille syndrome.  Hepatology Communications 2018 Notes: In Press.

Sorensen LG, Neighbors K, Hardison RM, Loomes KM, Varni JW, Ng VL, Squires RH, Alonso EM for the Pediatric Acute Liver Failure Study Group: Health Related Quality of Life and Neurocognitive Outcomes in the First Year after Pediatric Acute Liver Failure. Journal of Pediatrics 2018 Notes: In Press.

2017

Shneider BL, Moore J, Kerkar N, Magee JC, Ye W, Karpen SJ, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Loomes KM, Whitington PF, Rosenthal P, Squires RH, Guthery SL, Arnon R, Schwarz KB, Turmelle YP, Sherker AH, Sokol RJ for the Childhood Liver Disease Research Network: Initial assessment of the infant with neonatal cholestasis - is this biliary atresia? PLOS One 12(5): e017627, May 2017.

Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider B, the Childhood Liver Disease Research Network (ChiLDReN): Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology 65(5): 1645-1654, May 2017.

Tsai EA, Gilbert MA, Grochowski CM, Underkoffler LA, Meng H, Zhang X, Wang MM, Shitaye H, Hankenson KD, Piccoli D, Lin H, Kamath BM, Devoto M, Spinner NB, Loomes KM: THBS2 is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. Cellular and Molecular Gastroenterology and Hepatology Special Edition 2(5): 59-69, July 2017.

Ng VL, Sorensen LG, Alonso EM, Fredericks EM, Wen Y, Moore J, Karpen SJ, Shneider BL, Molleston JP, Bezerra JA, Murray KF, Loomes KM, Rosenthal P, Squires RH, Wang K, Arnon R, Schwarz KB, Turmelle YP, Haber BH, Sherker AH, Magee JC, Sokol RJ, the Childhood Liver Disease Research Network (ChiLDReN): Neurodevelopmental Outcome of Young Children with Biliary Atresia and Native Liver:  Results from the ChiLDReN Study. Journal of Pediatrics 2017 Notes: In Press.

Youngstrom DW, Senos dos Santos R, Zondervan RL, Brodeur JD, Lints AL, Young DR, Mitchell TL, Moore ME, Myers MH, Tseng WJ, Loomes KM, Hankenson KD.: Intraoperative delivery of the Notch ligand Jagged-1 regenerates appendicular and craniofacial bone defects. NPJ Regenerative Medicine 2(32): doi: 10.1038, Dec 2017 Notes: ecollection 2017.

2016

Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider B, the Childhood Liver Disease Research Network (ChiLDReN): Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology. 2016 Dec 27. doi: 10.1002/hep.29019. [Epub ahead of print]

Zamora R, Vodovotz Y, Mi Q, Barclay D, Yin J, Horslen S, Rudnick D, Loomes KM, Squires RH.: Data-driven modeling for precision medicine in pediatric acute liver failure. Molecular Medicine 2016.

Wang Kasper S, Tiao Greg, Bass Lee M, Hertel Paula M, Mogul Douglas, Kerkar Nanda, Clifton Matthew, Azen Colleen, Bull Laura, Rosenthal Philip, Stewart Dylan, Superina Riccardo, Arnon Ronen, Bozic Molly, Brandt Mary L, Dillon Patrick A, Fecteau Annie, Iyer Kishore, Kamath Binita, Karpen Saul, Karrer Frederick, Loomes Kathleen M, Mack Cara, Mattei Peter, Miethke Alexander, Soltys Kyle, Turmelle Yumirle P, West Karen, Zagory Jessica, Goodhue Cat, Shneider Benjamin L: Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology (Baltimore, Md.) Dec 2016.

Lin H, Zoll B, Russo P, Spinner NB, Loomes KM: A challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome. Journal of Pediatric Gastroenterology and Nutrition Dec 2016 Notes: E-pub ahead of print.

Cofer Zenobia C, Cui Shuang, EauClaire Steven F, Kim Cecilia, Tobias John W, Hakonarson Hakon, Loomes Kathleen M, Matthews Randolph P: Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia. PloS one 11(3): e0151521, 2016.

Zamora R, Vodovotz Y, Mi Q, Barclay D, Yin J, Horslen S, Rudnick D, Loomes KM, Squires RH: Data-Driven Modeling for Precision Medicine in Pediatric Acute Liver Failure. Molecular medicine (Cambridge, Mass.) 22, Nov 2016 Notes: Epub ahead of print.

Youngstrom DW, Dishowitz MI, Bales CB, Carr E, Mutyaba PL, Kozloff KM, Shitaye H, Hankenson KD, Loomes KM: Jagged1 expression by osteoblast-lineage cells regulates trabecular bone mass and periosteal expansion in mice. Bone 91: 64-74, October 2016 Notes: doi: 10.1016/j.bone.2016.07.006.

Tsai Ellen A, Gilbert Melissa A, Grochowski Christopher M, Underkoffler Lara A, Meng He, Zhang Xiaojie, Wang Michael M, Shitaye Hailu, Hankenson Kurt D, Piccoli David, Lin Henry, Kamath Binita M, Devoto Marcella, Spinner Nancy B, Loomes Kathleen M: THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. Cellular and molecular gastroenterology and hepatology 2(5): 663-675.e2, Sep 2016.

Ng VL, Li R, Loomes KM, Leonis MA, Rudnick DA, Belle SH, Squires RH, for the Pediatric Acute Liver Failure Study Group (PALFSG): Outcomes of Children With and Without Hepatic Encephalopathy from the Pediatric Acute Liver Failure (PALF) Study Group. Journal of Pediatric Gastroenterology and Nutrition 63(3): 357-364, September 2016.

Tang V, Cofer ZC, Cui S, Sapp V, Loomes KM, Matthews RP: Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish. J Pediatr Gastroenterol Nutr August 2016.

Narkewicz MR, Horslen S, Belle SH, Rudnick DA, Ng VL, Rosenthal P, Romero R, Loomes KM, Zhang S, Hardison RM, Squires RH; Pediatric Acute Liver Failure Study Group: Prevalence and Significance of Autoantibodies in Children with Acute Liver Failure. J Pediatr Gastroenterol Nutr August 2016.

January Kathleen, J Conway Laura, Deardorff Matthew, Harrington Ann, Krantz Ian D, Loomes Kathleen, Pipan Mary, Noon Sarah E: Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. American journal of medical genetics. Part C, Seminars in medical genetics May 2016.

Rajagopalan Ramakrishnan, Grochowski Christopher M, Gilbert Melissa A, Falsey Alexandra M, Coleman Karlene, Romero Rene, Loomes Kathleen M, Piccoli David A, Devoto Marcella, Spinner Nancy B: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. American journal of medical genetics. Part A 170(3): 750-3, Mar 2016.

Patel Jyoti K, Loomes Kathleen M, Goldberg David J, Mercer-Rosa Laura, Dodds Kathryn, Rychik Jack: Early Impact of Fontan Operation on Enteric Protein Loss. The Annals of thoracic surgery 101(3): 1025-30, Mar 2016.

2015

Kamath BM, Chen Z, Romero R, Fredericks EM, Alonso EM, Arnon R, Heubi J, Hertel PM, Karpen SJ, Loomes KM, Murray KF, Rosenthal P, Schwarz KB, Subbarao G, Teckman JH, Turmelle YP, Wang KS, Sherker AH, Sokol RJ, Magee JC: Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome. The Journal of Pediatrics 167(2): 390-396.e3, Aug 2015.

Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Loomes KM, Heubi JE, Hertel PM, Scheenstra R, Furuya K, Kutsch E, Spinner NB, Robbins KN, Venkat V, Rosenthal P, Beyene J, Baker Ar, Kamath BM: Early Life Predictive Markers of Liver Disease Outcome in an International, Multi-Center Cohort of Children with Alagille Syndrome. Liver international: official journal of the International Association for the Study of the Liver Jul 2015.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB: Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. Human Mutation 36(6), June 2015.

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M, Spinner B: Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. American Journal of Medical Genetics 167A(4): 891-3, Mar 2015.

Teckman JH, Rosenthal P, Abel R, Bass LM, Michail S, Murray KF, Rudnick DA, Thomas DW, Spino C, Arnon R, Hertel PM, Heubi J, Kamath BM, Karnsakul W, Loomes KM, Magee JC, Molleston JP, Romero R, Shneider BL, Sherker AH, Sokol RJ: Baseline Analysis of a Young Alpha-1-AT Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension. Journal of Pediatric Gastroenterology and Nutrition 61(1): 94-101, Feb 2015.

2014

Venkat VL, Shneider BL, Magee JC, Turmelle Y, Arnon R, Bezerra JA, Hertel PM, Karpen SJ, Kerkar N, Loomes KM, Molleston J, Murray KF, Ng VL, Raghunathan T, Rosenthal P, Schwartz K, Sherker AH, Sokol RJ, Teckman J, Wang K, Whitington PF, Heubi JE: Total serum bilirubin predicts fat-soluble vitamin deficiency better than serum bile acids in infants with biliary atresia. Journal of Pediatric Gastroenterology and Nutrition 59(6): 702-7, Dec 2014.

Bezerra JA, Spino C, Magee JC, Shneider BL, Rosenthal P, Wang KS, Erlichman J, Haber B, Hertel P M, Karpen SJ, Kerkar N, Loomes KM, Molleston JP, Murray KF, Romero R, Schwarz KB, Shepherd R, Suchy FJ, Turmelle YP, Whitington PF, Moore J, Sherker AH, Robuck PR, Sokol RJ: Use of corticosteroids after hepatoportoenterostomy for bile drainage in infants with biliary atresia: the START randomized clinical trial. JAMA 311(17): 1750-9, May 2014.

Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Human Genetics 133(2), Feb 2014.

2013

Underkoffler LA, Carr E, Nelson A, Ryan MJ, Schulz R, Loomes KM: Microarray Data Reveal Relationship between Jag1 and Ddr1 in mouse liver. PLOS One 8(12): e84383, December 2013.

Tsai Ellen A, Grochowski Christopher M, Loomes Kathleen M, Bessho Kazuhiko, Hakonarson Hakon, Bezerra Jorge A, Russo Pierre A, Haber Barbara A, Spinner Nancy B, Devoto Marcella: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Human genetics Oct 2013.

Leonard Laura D, Chao Grace, Baker Alastair, Loomes Kathleen, Spinner Nancy B: Clinical utility gene card for: Alagille Syndrome (ALGS). European journal of human genetics : EJHG Jul 2013.

Leonis Mike A, Alonso Estella M, Im Kelly, Belle Steven H, Squires Robert H: Chronic acetaminophen exposure in pediatric acute liver failure. Pediatrics 131(3): e740-6, Mar 2013.

2012

Clark Dinah M, Sherer Ilana, Deardorff Matthew A, Byrne Janice L B, Loomes Kathleen M, Nowaczyk Malgorzata J M, Jackson Laird G, Krantz Ian D: Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. American journal of medical genetics. Part A 158A(8): 1848-56, Aug 2012.

Lin Henry C, Le Hoang Phuc, Hutchinson Anne, Chao Grace, Gerfen Jennifer, Loomes Kathleen M, Krantz Ian, Kamath Binita M, Spinner Nancy B: Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. American journal of medical genetics. Part A 158A(5): 1005-13, May 2012.

Humphreys Ryan, Zheng Wei, Prince Lawrence S, Qu Xianghu, Brown Christopher, Loomes Kathleen, Huppert Stacey S, Baldwin Scott, Goudy Steven: Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients. Human molecular genetics 21(6): 1374-83, Mar 2012.

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: NOTCH2 mutations in Alagille syndrome. Journal of medical genetics 49(2): 138-44, Feb 2012.

Kamath Binita M, Podkameni Gisele, Hutchinson Anne L, Leonard Laura D, Gerfen Jennifer, Krantz Ian D, Piccoli David A, Spinner Nancy B, Loomes Kathleen M, Meyers Kevin: Renal anomalies in Alagille syndrome: a disease-defining feature. American journal of medical genetics. Part A 158A(1): 85-9, Jan 2012.

2011

Schrier Samantha A, Sherer Ilana, Deardorff Matthew A, Clark Dinah, Audette Lynn, Gillis Lynette, Kline Antonie D, Ernst Linda, Loomes Kathleen, Krantz Ian D, Jackson Laird G: Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. American journal of medical genetics. Part A 155A(12): 3007-24, Dec 2011.

2010

Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, et al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. Cited in PubMed; PMID 20453673.

Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):580-6. Cited in PubMed; PMID 20479679.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, et al. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat. 2010 May;31(5):594-601. Cited in PubMed; PMID 20437614. 

2009

Colletti RB, Baldassano RN, Milov DE, Margolis PA, Bousvaros A, Crandall WV, et al. Variation in care in pediatric Crohn disease. J Pediatr Gastroenterol Nutr. 2009 Sep;49(3):297-303. Cited in PubMed; PMID 19590456.

High FA, Jain R, Stoller JZ, Antonucci NB, Lu MM, Loomes KM, et al. Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development. J Clin Invest. 2009 Jul;119(7):1986-96. doi: 10.1172/JCI38922. Epub 2009 Jun 8. Cited in PubMed; PMCID: PMC2701882.

Golson ML, Le Lay J, Gao N, Brämswig N, Loomes KM, Oakey R, et al. Jagged1 is a competitive inhibitor of Notch signaling in the embryonic pancreas. Mech Dev. 2009 Aug-Sep;126(8-9):687-99. Epub 2009 Jun 6. Cited in PubMed; PMCID: PMC2728177.

Golson ML, Loomes KM, Oakey R, Kaestner KH. Ductal malformation and pancreatitis in mice caused by conditional Jag1 deletion. Gastroenterology. 2009 May;136(5):1761-71.e1. Epub 2009 Jan 23. Cited in PubMed; PMID 19208348.

Aitken JF, Loomes KM, Scott DW, Reddy S, Phillips AR, Prijic G, et al. Tetracycline treatment retards the onset and slows the progression of diabetes in human amylin/islet amyloid polypeptide transgenic mice.  Diabetes. 2010 Jan;59(1):161-71. Epub 2009 Sep 30.

Books

2018

Kamath BM and Loomes KM: Alagille Syndrome:  Pathogenesis and Clinical Management. Book. Springer, 2018.

2013

Zorc JJ, Alpern ER, Brown L, Loomes KM, Clark BJ, Marino BS, Mollen CM, Raffini LJ, Editors: Schwartz's Clinical Handbook of Pediatrics. . Lippincott, Williams and Wilkins, 2013.

Schwartz MW, Bell LM, Bingham PM, Chung EK, Friedman DF, Loomes KM, Mamula P, Mascarenhas MR, Tanel RE (Eds): The 5 Minute Pediatric Consult. 6th Edition. Lippincott Williams and Wilkins, 2013.

2009

Zorc JJ, Alpern ER, Brown LW, Loomes KM, Marino BS, Mollen CJ, et al., editors. Clinical handbook of pediatrics. Philadelphia: Lippincott Williams & Wilkins; 2009.

2008

Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott Williams & Wilkins; 2008.

Chapters

2016

Emerick KM, Loomes KM: Pediatric Cholestatic Liver Disease with Genetic Etiology. Pediatric Gastrointestinal and Liver Disease, 5th Ed. Wyllie R, Hyams JS, Kay M (eds.). Elsevier, 2016.

2011

Emerick KM and Loomes KM: Pediatric Cholestatic Liver Disease with Genetic Etiology. Pediatric Gastrointestinal and Liver Disease, 4th Ed. Wyllie R, Hyams JS and Kay M (eds.). Philadelphia: Elsevier Mosby Saunders, 2011.

2010

Kamath BM, Loomes KM, Piccoli DA. JAGGED1/NOTCH2 sequence in Alagille syndrome. In: Murray K, Larson AM, editors. Fibrocystic diseases of the liver. New York: Springer-Verlag; 2010.

2008

Ryan MJ, Loomes KM. Congenital hepatic fibrosis. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Mosby Elsevier; 2008. p. 253-60.

Franciosi J, Loomes KM. Wilson disease. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Mosby Elsevier; 2008. p. 298-304.

Loomes KM. Biliary Atresia. In: Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott, Williams and Wilkins; 2008. p 104-5.

Loomes KM. Biliary Jaundice. In: Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott, Williams and Wilkins; 2008. p. 472-3.

2004

Russo P, Loomes KM. Diseases of the intrahepatic biliary tree: paucity of the intrahepatic bile ducts. In: Russo L, Rucchelli E, Piccoli DA, editors. Pathology of pediatric gastrointestinal and liver disease. 2004. p. 220-36.

2002

Loomes KM, Kusumi K, Spinner NB. Notch genes. In: Wiley Encyclopedia of Molecular Medicine. 2002. p. 2287-90.

2001

Loomes KM and Piccoli DA: Metabolic and Infectious Causes of Neonatal Hepatitis  Fetal and Neonatal Secrets. Polin R and Spitzer AR (eds.). Philadelphia:  Hanley and Belfus, 2001.

2000

Loomes KM: Congenital hepatic fibrosis. The 5-Minute Pediatric Consult. Schwartz MW, Bell LM, Bingham PM, Chung EK, Friedman DF and Mulberg AE (eds.). Philadelphia:  Lippincott Williams and Wilkins, Page: 272-3, 2000.

1999

Loomes KM and Mulberg AE : The infant with cholestasis. Clinical Practice of Gastroenterology. Brandt, LJ (eds.). Philadelphia:  Current Medicine, Page: 1403-9, 1999.

Posters and Presentations

Invited Lectures

2024

Loomes KM. "Genetics and Genomics in Diagnosing Cholestatic Disorders" 5th Annual Pediatric Liver Disease and Transplantation Symposium (Virtual), New York Presbyterian and Columbia University. Feb 2024.

Loomes KM. "Genetic Modifiers in Pediatric Liver Disease" Cincinnati Children's Medical Center, Pediatric Hepatology Research Seminar (Virtual). Jan 2024.

2023

Loomes KM. "Cirrhosis Management Unique to Children" AASLD Postgraduate Course, Boston, MA. Nov 2023.

Loomes KM. "The Future of ALGS Science and Research", ALGS Alliance, 11th Annual Symposium on Alagille Syndrome (Virtual). Jul 2023.

Loomes KM. "Genetic Contributions to Biliary Atresia," Emory University, Atlanta, GA. Jun 2023.

2022

Loomes KM. "Emerging Therapies for Cholestatic Liver Disease" NASPGHAN Annual Meeting, Orlando, FL. Oct 2022.

Loomes KM. "Genetic Modifiers in Pediatric Liver Disease" University of Toronto, Toronto, Ontario, Canada. Jun 2022.