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Nancy B. Spinner

Children's Hospital of Philadelphia

76H-index
308Paper Count
2.5WCitation Count
Published Papers 103
Publication Date
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Response to Sansom et al
errGenetics in Medicine
IF6.2
err2026-01-06
err0
PREAI
errKatharine Press Callahan; Rebecca Mueller; Steven Joffe; Cara Skraban; Nancy Spinner; Karen Crew; Justin Clapp; David Munson; Chris Feudtner
errShare
errSave
Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways
errJACC
IF0
err2025-11-03
err0
errOAAI
errRebecca Josowitz; Stacy Woyciechowski; Tanaya Jadhav; Tejas Jammihal; Rebecca L. Linn; Jack Rychik; J. William Gaynor; Ramakrishnan Rajagopalan; Nancy B. Spinner
errShare
errSave
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
errShare
errSave
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
errGENETICS IN MEDICINE
IF6.2
err2025-07-01
err0
PREAI
errGonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline
errShare
errSave
Parents' perceptions of the utility of genetic testing
errGENETICS IN MEDICINE
IF6.2
err2025-02-01
err0
PREAI
errCallahan, Katharine Press; Mueller, Rebecca; Joffe, Steven; Skraban, Cara; Spinner, Nancy B.; Crew, Karen; Clapp, Justin; Munson, David; Feudtner, Chris
errShare
errSave
How Neonatologists Use Genetic Information
errJOURNAL OF PEDIATRICS
IF3.5
err2025-02-01
err0
PREAI
errCallahan, Katharine Press; Mueller, Rebecca; Joffe, Steven; Skraban, Cara; Spinner, Nancy B.; Crew, Karen; Wild, K. Taylor; Clapp, Justin T.; Feudtner, Chris
errShare
errSave
Fetuses with Congenital Heart Disease and Placental Malperfusion Have Adverse Outcomes and De Novo Variants in Key Placental Developmental Pathways
errCIRCULATION
IF38.6
err2024-11-12
err0
PREAI
errJosowitz, Rebecca; Woyciechowski, Stacy; Linn, Rebecca; Rychik, Jack; Gaynor, J.; Rajagopalan, Ramakrishnan; Spinner, Nancy
errShare
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.
errShare
errSave
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
errGENETICS IN MEDICINE
IF6.2
err2024-10-01
err0
PREAI
errGuess, Tiffany; Wheeler, Ferrin C.; Yenamandra, Ashwini; Schilit, Samantha L. P.; Anderson, Hannah S.; Bone, Kathleen M.; Carstens, Billie; Conlin, Laura; Dulik, Matthew C.; Dupont, Barbra R.; Fanning, Elizabeth; Gardner, Juli-Anne; Haag, Mary; Hilton, Benjamin A.; Johnson, Jill; Kogan, Jillene; Murry, Jacyln; Polonis, Katarzyna; Quigley, Denise I.; Repnikova, Elena A.; Rowsey, Ross A.; Spinner, Nancy; Stoeker, Mikayla; Thurston, Virginia; Wiley, Margaret; Zhang, Lei
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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.
errShare
errSave
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review
errJOURNAL OF PEDIATRICS
IF3.5
err2024-08-01
err0
PREAI
errWild, K. Taylor; Conlin, Laura; Blair, Justin; Manfredi, Michael; Hamilton, Thomas E.; Muir, Amanda; Zackai, Elaine H.; Nace, Gary; Partridge, Emily A.; Devine, Matthew; Reynolds, Tom; Rintoul, Natalie E.; Hedrick, Holly L.; Spinner, Nancy; Krantz, Ian D.
errShare
errSave
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
errHEPATOLOGY
IF15.8
err2022-10-13
err28
errOAAI
errVandriel, Shannon M.; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastro, Emanuele; Sokal, Etienne; Demaret, Tanguy; Ebel, Noelle H.; Feinstein, Jeffrey A.; Fawaz, Rima; Nastasio, Silvia; Lacaille, Florence; Debray, Dominique; Arnell, Henrik; Fischler, Bjorn; Siew, Susan; Stormon, Michael; Karpen, Saul J.; Romero, Rene; Kim, Kyung Mo; Baek, Woo Yim; Hardikar, Winita; Shankar, Sahana; Roberts, Amin J.; Evans, Helen M.; Jensen, M. Kyle; Kavan, Marianne; Sundaram, Shikha S.; Chaidez, Alexander; Karthikeyan, Palaniswamy; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Verkade, Henkjan J.; Lee, Way Seah; Squires, James E.; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T.; Larson-Nath, Catherine; Mozer-Glassberg, Yael; Arikan, Cigdem; Lin, Henry C.; Bernabeu, Jesus Quintero; Alam, Seema; Kelly, Deirdre A.; Carvalho, Elisa; Ferreira, Cristina Targa; Indolfi, Giuseppe; Quiros-Tejeira, Ruben E.; Bulut, Pinar; Calvo, Pier Luigi; Onal, Zerrin; Valentino, Pamela L.; Desai, Dev M.; Eshun, John; Rogalidou, Maria; Dezsofi, Antal; Wiecek, Sabina; Nebbia, Gabriella; Pinto, Raquel Borges; Wolters, Victorien M.; Tamara, Maria Legarda; Zizzo, Andreanne N.; Garcia, Jennifer; Schwarz, Kathleen; Beretta, Marisa; Sandahl, Thomas Damgaard; Jimenez-Rivera, Carolina; Kerkar, Nanda; Brecelj, Jernej; Mujawar, Quais; Rock, Nathalie; Busoms, Cristina Molera; Karnsakul, Wikrom; Lurz, Eberhard; Santos-Silva, Ermelinda; Blondet, Niviann; Bujanda, Luis; Shah, Uzma; Thompson, Richard J.; Hansen, Bettina E.; Kamath, Binita M.
errShare
errSave
Human Mutation special issue on innovations in genomic diagnostics
errHUMAN MUTATION
IF3.7
err2022-10-11
err0
errOAAI
errScott, Stuart A.; Wang, Kai; Spinner, Nancy B.
errShare
errSave
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
errHUMAN MUTATION
IF3.7
err2022-08-02
err2
PREAI
errChen, Robert; Diaz-Miranda, Maria Alejandra; Aref-Eshghi, Erfan; Hartman, Tiffiney R.; Griffith, Christopher; Morrison, Jennifer L.; Wheeler, Patricia G.; Torti, Erin; Richard, Gabriele; Kenna, Margaret; Dechene, Elizabeth T.; Spinner, Nancy B.; Bai, Renkui; Conlin, Laura K.; Krantz, Ian D.; Amr, Sami S.; Luo, Minjie
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errSave
Too few or too many? Variant reporting burden and diagnostic comparisons of an extensive gene panel with exome-sequencing in immunodeficiency
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errAref-Eshghi, Erfan; Cao, Kajia; Fu, Weixuan; Wood, Kathleen; Spinner, Nancy; Dulik, Matthew; Conlin, Laura; Wang, Jing; Luo, Minjie
errShare
errSave
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-01-01
err6
errOAAI
errWang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M.; Aref-Eshghi, Erfan; Muir, Alison M.; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Peterson, James T.; Spinner, Nancy B.; Wallace, Douglas C.; Dulik, Matthew C.; Falk, Marni J.
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errSave
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
errGENETICS IN MEDICINE
IF6.2
err2021-02-01
err19
errOAAI
errRajagopalan, Ramakrishnan; Gilbert, Melissa A.; McEldrew, Deborah A.; Nassur, James A.; Loomes, Kathleen M.; Piccoli, David A.; Krantz, Ian D.; Conlin, Laura K.; Spinner, Nancy B.
errShare
errSave
A six-attribute classification of genetic mosaicism
errGENETICS IN MEDICINE
IF6.2
err2020-11-01
err49
errOAAI
errMartinez-Glez, Victor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; de Lucas, Raul; Perez-Jurado, Luis A.; Ruiz Perez, Victor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo
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errSave
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia
errGASTROENTEROLOGY
IF25.1
err2020-09-01
err14
errOAAI
errZhao, Xiao; Lorent, Kristin; Escobar-Zarate, Diana; Rajagopalan, Ramakrishnan; Loomes, Kathleen M.; Gillespie, Kevin; Mesaros, Clementina; Estrada, Michelle A.; Blair, Ian A.; Winkler, Jeffrey D.; Spinner, Nancy B.; Devoto, Marcella; Pack, Michael
errShare
errSave
A Centralized Approach for Practicing Genomic Medicine
errPEDIATRICS
IF6.4
err2020-03-01
err6
errOAAI
errBiswas, Sawona; Medne, Livija; Devkota, Batsal; Bedoukian, Emma; Berrodin, Donna; Izumi, Kosuke; Deardorff, Matthew A.; Tarpinian, Jennifer; Leonard, Jacqueline; Pyle, Loiusa; Gray, Christopher; Montgomery, Jasmine; Williams, Tyrah; Fortunato, Sierra; Weatherly, Jamila; McEldrew, Deborah; Kaur, Manindar; Raible, Sarah E.; Wilkens, Alisha; Spinner, Nancy B.; Skraban, Cara; Krantz, Ian D.
errShare
errSave

Research Directions

No research directions
Co-authors
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