Published in Am J Hum Genet on February 18, 2010
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Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology (2005) 29.57
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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med (2006) 5.28
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Estimation of impact of American College of Radiology recommendations on CT colonography reporting for resection of high-risk adenoma findings. Am J Gastroenterol (2009) 3.18
Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology (2008) 3.04
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Screening for Barrett's esophagus in colonoscopy patients with and without heartburn. Gastroenterology (2003) 2.59
The combination of ribavirin and peginterferon is superior to peginterferon and placebo for children and adolescents with chronic hepatitis C. Gastroenterology (2010) 2.48
Pattern of diagnostic evaluation for the causes of pediatric acute liver failure: an opportunity for quality improvement. J Pediatr (2009) 2.46
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Comparison of oral prednisone and topical fluticasone in the treatment of eosinophilic esophagitis: a randomized trial in children. Clin Gastroenterol Hepatol (2008) 2.19
Intraductal papillary mucinous neoplasms: predictors of malignant and invasive pathology. Ann Surg (2007) 2.10
Activation of the signal transducers and activators of the transcription 3 pathway in alveolar epithelial cells induces inflammation and adenocarcinomas in mouse lung. Cancer Res (2007) 2.04
Baseline Analysis of a Young α-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension. J Pediatr Gastroenterol Nutr (2015) 1.98
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Pathology of chronic hepatitis C in children: liver biopsy findings in the Peds-C Trial. Hepatology (2008) 1.85
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Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet (2010) 1.72
Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet (2003) 1.69
Evidence for immune responses to a self-antigen in lung transplantation: role of type V collagen-specific T cells in the pathogenesis of lung allograft rejection. J Immunol (2002) 1.68
Growth failure and outcomes in infants with biliary atresia: a report from the Biliary Atresia Research Consortium. Hepatology (2007) 1.68
Relationship of steatosis grade and zonal location to histological features of steatohepatitis in adult patients with non-alcoholic fatty liver disease. J Hepatol (2008) 1.67
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci U S A (2011) 1.62
Evidence for common clonal origin of multifocal lung cancers. J Natl Cancer Inst (2009) 1.59
Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics (2002) 1.53
Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab (2010) 1.52
Chronic Abdominal Pain In Children: a Technical Report of the American Academy of Pediatrics and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr (2005) 1.51
Molecular pathology of lung cancer: key to personalized medicine. Mod Pathol (2012) 1.50
Portal hypertension in children: expert pediatric opinion on the report of the Baveno v Consensus Workshop on Methodology of Diagnosis and Therapy in Portal Hypertension. Pediatr Transplant (2012) 1.49
Autoreactive T and B cells induce the development of bronchus-associated lymphoid tissue in the lung. Am J Respir Cell Mol Biol (2013) 1.49
Fulminant hepatic failure as the initial presentation of acute autoimmune hepatitis. Clin Gastroenterol Hepatol (2004) 1.48
Treatment of nonalcoholic fatty liver disease in children: TONIC trial design. Contemp Clin Trials (2009) 1.48
Improvement in liver histology is associated with reduction in dyslipidemia in children with nonalcoholic fatty liver disease. J Pediatr Gastroenterol Nutr (2015) 1.46
Th-17, monokines, collagen type V, and primary graft dysfunction in lung transplantation. Am J Respir Crit Care Med (2008) 1.44
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A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Glycogenic hepatopathy: an underrecognized hepatic complication of diabetes mellitus. Am J Surg Pathol (2006) 1.41
Clinical, endoscopic, and histologic features of eosinophilic inflammation of the gastrointestinal tract in pediatric liver transplant patients. Pediatr Transplant (2013) 1.39
KIT mutations are common in testicular seminomas. Am J Pathol (2004) 1.36
CT vs MRCP: optimal classification of IPMN type and extent. J Gastrointest Surg (2007) 1.34
Lnk constrains myeloproliferative diseases in mice. J Clin Invest (2010) 1.29
Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr (2011) 1.27
Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet (2002) 1.25
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Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet (2003) 1.23
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain (2007) 1.23
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A (2009) 1.20
Differential expression of Smad7 transcripts identifies the CD4+CD45RChigh regulatory T cells that mediate type V collagen-induced tolerance to lung allografts. J Immunol (2003) 1.19
Relationship among histologic, radiologic, and biochemical assessments of hepatic steatosis: a study of human liver samples. J Clin Gastroenterol (2007) 1.18
Translational systems approaches to the biology of inflammation and healing. Immunopharmacol Immunotoxicol (2010) 1.18
Stat3 downstream genes serve as biomarkers in human lung carcinomas and chronic obstructive pulmonary disease. Lung Cancer (2008) 1.17
Preoperative predictors of malignancy in pancreatic intraductal papillary mucinous neoplasms. Arch Surg (2003) 1.17
Prevention of bronchiolitis obliterans in rat lung allografts by type V collagen-induced oral tolerance. Transplantation (2002) 1.17
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. J Biol Chem (2003) 1.16
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet C Semin Med Genet (2003) 1.12
Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder. Sci Transl Med (2013) 1.11
Reinterpretation of histology of proximal colon polyps called hyperplastic in 2001. World J Gastroenterol (2009) 1.11
A report of three patients with an interstitial deletion of chromosome 15q24. Am J Med Genet A (2005) 1.10
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr (2006) 1.09
White specks in the esophageal mucosa: An endoscopic manifestation of non-reflux eosinophilic esophagitis in children. Gastrointest Endosc (2004) 1.09
Exploring potential noninvasive biomarkers in eosinophilic esophagitis in children. J Pediatr Gastroenterol Nutr (2011) 1.09
Methods and effects of a case-based pediatric gastroenterology online curriculum. J Pediatr Gastroenterol Nutr (2013) 1.09
Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol (2009) 1.09
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet (2009) 1.08
Does leptin play a role in the pathogenesis of human nonalcoholic steatohepatitis? Am J Gastroenterol (2003) 1.08
Effects of liver biopsy sample length and number of readings on sampling variability in nonalcoholic Fatty liver disease. Clin Gastroenterol Hepatol (2008) 1.08
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain (2014) 1.08