Publications by authors named "Nancy Spinner"

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Response to Sansom et al.
Katharine Press Callahan, Rebecca Mueller, Steven Joffe, Cara Skraban, Nancy Spinner

Genet Med· January 2026

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Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways.
Rebecca Josowitz, Stacy Woyciechowski, Tanaya Jadhav, Tejas Jammihal, Rebecca L Linn, Nancy B Spinner

J Am Coll Cardiol· November 2025

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Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Shannon M Vandriel, Li-Ting Li, Huiyu She, Jian-She Wang, Kathleen M Loomes, Nancy B Spinner

Liver Int· September 2025

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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, Lisa R Young, Laura A Voss

Genet Med· July 2025

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Parents' perceptions of the utility of genetic testing in the NICU.
Katharine Press Callahan, Rebecca Mueller, Steven Joffe, Cara Skraban, Nancy B Spinner

Genet Med· June 2025

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How Neonatologists Use Genetic Information.
Katharine Press Callahan, Rebecca Mueller, Steven Joffe, Cara Skraban, Nancy B Spinner

J Pediatr· May 2025

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Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.
Elena F Evans, Guibin Chen, Ivan Pavlinov, Xiuli Huang, Kaari Linask, Nancy B Spinner

Stem Cell Res· February 2025

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A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.
Tiffany Guess, Ferrin C Wheeler, Ashwini Yenamandra, Samantha L P Schilit, Hannah S Anderson, Nancy Spinner

Genet Med· October 2024

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Ernest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, Grace Matwijec, Apsara Reese, Nancy B Spinner

HGG Adv· October 2024

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Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.
K Taylor Wild, Laura Conlin, Justin Blair, Michael Manfredi, Thomas E Hamilton, Nancy Spinner

J Pediatr· August 2024

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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Melissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nancy B Spinner

Am J Hum Genet· August 2024

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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.
Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Nancy B Spinner

Stem Cell Res· June 2024

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Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.
Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Nancy Spinner

Stem Cell Res· December 2023

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Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Shannon M Vandriel, Li-Ting Li, Huiyu She, Jian-She Wang, Melissa A Gilbert, Nancy B Spinner

Hepatology· February 2023

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Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease.
Daniel H Leung, Sridevi Devaraj, Nathan P Goodrich, Xinpu Chen, Deepthi Rajapakshe, Nancy Spinner

Hepatology· February 2023

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R Hartman, Christopher Griffith, Nancy B Spinner

Hum Mutat· December 2022

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Human Mutation special issue on innovations in genomic diagnostics.
Stuart A Scott, Kai Wang, Nancy B Spinner

Hum Mutat· November 2022

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, Elizabeth M McCormick, Erfan Aref-Eshghi, Nancy B Spinner

Mol Genet Metab· January 2022

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Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
Emma A Schindler, Melissa A Gilbert, David A Piccoli, Nancy B Spinner, Ian D Krantz

Am J Med Genet A· March 2021

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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, James A Nassur, Kathleen M Loomes, Nancy B Spinner

Genet Med· February 2021

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A six-attribute classification of genetic mosaicism.
Víctor Martínez-Glez, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez-Laguna, Nancy B Spinner

Genet Med· November 2020

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Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia.
Xiao Zhao, Kristin Lorent, Diana Escobar-Zarate, Ramakrishnan Rajagopalan, Kathleen M Loomes, Nancy B Spinner

Gastroenterology· September 2020

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Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.
Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C Dulik, Cara M Skraban, Nancy B Spinner

Front Pediatr· July 2020

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Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study.
Binita M Kamath, Wen Ye, Nathan P Goodrich, Kathleen M Loomes, Rene Romero, Nancy B Spinner

Hepatol Commun· March 2020

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