Nancy Spinner
University of Pennsylvania
H-index: 77
North America-United States
Top articles of Nancy Spinner
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p. Cys693*) in the JAG1 gene
Stem cell research
2023/12/1
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review
The Journal of Pediatrics
2024/4/18
Nancy Spinner
H-Index: 44
P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease
Genetics in Medicine Open
2024/1/1
P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period
Genetics in Medicine Open
2024/1/1
Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease
Hepatology
2023/2/1
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
Hepatology
2023/2/1
Risk of variceal hemorrhage and pretransplant mortality in children with biliary atresia
Hepatology
2022/9
Susan Kelly
H-Index: 0
Jorge Bezerra
H-Index: 11
Nancy Spinner
H-Index: 44
Grace Kim
H-Index: 1
Rosemary Nagy
H-Index: 11
Binita Kamath
H-Index: 30
Juan Putra
H-Index: 13
Deepika Sharma
H-Index: 3
Kyle Jensen
H-Index: 8
Kasper Wang
H-Index: 27
Rohit Kohli
H-Index: 28
Paula Hertel
H-Index: 23
Richard Thompson
H-Index: 78
John Magee
H-Index: 6
Cathie Spino
H-Index: 27
eP313: Too few or too many? Variant reporting burden and diagnostic comparisons of an extensive gene panel with exome-sequencing in immunodeficiency
Genetics in Medicine
2022/3/1
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Molecular genetics and metabolism
2022/1/1
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
Human Mutation
2022/12
Human Mutation special issue on innovations in genomic diagnostics
Human Mutation
2022/11
Application of real-world evidence analytics: A 6-year event-free survival analysis in alagille syndrome of the gala clinical research database and maralixibat treated patients
Hepatology
2021/12
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes
2021/3
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
Genetics in Medicine
2021/2/1
Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia
Gastroenterology
2020/9/1
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and …
Human mutation
2020/5
A centralized approach for practicing genomic medicine
Pediatrics
2020/3/1
Outcomes of childhood cholestasis in Alagille syndrome: results of a multicenter observational study
Hepatology communications
2020/3
