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Nancy B. Spinner

Active 1992–2025

94
Papers
21,175
Citations
76
h-index
93
i10-index

Citations

Citations per year for Nancy B. Spinner1955: 6 citations1969: 1 citations1992: 1 citations1993: 8 citations1994: 5 citations1995: 18 citations1996: 13 citations1997: 26 citations1998: 62 citations1999: 110 citations2000: 135 citations2001: 171 citations2002: 155 citations2003: 117 citations2004: 122 citations2005: 103 citations2006: 90 citations2007: 121 citations2008: 114 citations2009: 108 citations2010: 215 citations2011: 258 citations2012: 221 citations2013: 202 citations2014: 146 citations2015: 203 citations2016: 196 citations2017: 180 citations2018: 197 citations2019: 543 citations2020: 519 citations2021: 438 citations2022: 315 citations2023: 161 citations2024: 333 citations2025: 118 citations2026: 3 citations1956–1968: no citations, so these years are not shown1970–1991: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,462 citing papers, 33.6% of this breakdownUnited Kingdom: 582 citing papers, 7.9% of this breakdownCanada: 404 citing papers, 5.5% of this breakdownGermany: 366 citing papers, 5% of this breakdownChina: 359 citing papers, 4.9% of this breakdownNetherlands: 271 citing papers, 3.7% of this breakdownFrance: 265 citing papers, 3.6% of this breakdownItaly: 260 citing papers, 3.5% of this breakdownAustralia: 245 citing papers, 3.3% of this breakdownJapan: 197 citing papers, 2.7% of this breakdownSpain: 167 citing papers, 2.3% of this breakdownSwitzerland: 136 citing papers, 1.9% of this breakdown
0%33.6%Other 22.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology60.7%
  • Medicine30.5%
  • Neuroscience5.3%
  • Immunology and Microbiology1.1%
  • Agricultural and Biological Sciences0.8%
  • Psychology0.3%
  • Other1.3%

Topics

  • Genomic variations and chromosomal abnormalities7.4%
  • Genomics and Rare Diseases7%
  • Congenital heart defects research4.4%
  • Genetics and Neurodevelopmental Disorders3.5%
  • Pediatric Hepatobiliary Diseases and Treatments2.7%
  • Prenatal Screening and Diagnostics2.6%
  • Other72.4%

Coauthors

All papers

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  1. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    Authors: David T. Miller, Margaret P Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James Tepperberg, Erik C. Thorland, Joris Vermeesch, Darrel Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter - The American Journal of Human Genetics 2010 cited by 2,873

  2. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

    Authors: Linheng Li, Ian D. Krantz, Yu Deng, Anna Genin, Amy B. Banta, Colin C. Collins, Ming Qi, Barbara J. Trask, Wen Lin Kuo, Joanne Cochran, Teresa Costa, Mary Ella Pierpont, Elizabeth B. Rand, David A. Piccoli, L Hood, Nancy B. Spinner - Nature Genetics 1997 cited by 1,286

  3. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

    Authors: Jeffrey R. Botkin, John W. Belmont, Jonathan S. Berg, Benjamin E. Berkman, Yvonne Bombard, Ingrid A. Holm, Howard P. Levy, Kelly E. Ormond, Howard M. Saal, Nancy B. Spinner, Benjamin S. Wilfond, Joseph D. McInerney - The American Journal of Human Genetics 2015 cited by 898

  4. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

    Authors: Shannon M. Vandriel, Liting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel Gonzalès, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D’Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, René Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, María Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Çiğdem Arıkan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Déirdre Kelly, Elisa de Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Rubén E. Quirós‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Więcek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer García, Kathleen B. Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jiménez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos Silva, Niviann Blondet, Luís Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group - Hepatology 2022 cited by 89

  5. NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

    Authors: Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, Athma A. Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner - The American Journal of Human Genetics 2006 cited by 743

  6. A genomic view of mosaicism and human disease

    Authors: Leslie G. Biesecker, Nancy B. Spinner - Nature Reviews Genetics 2013 cited by 625

  7. Alagille syndrome mutation update: Comprehensive overview ofJAG1andNOTCH2mutation frequencies and insight into missense variant classification

    Authors: Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan, Christopher M. Grochowski, Grace F. Chao, Deborah McEldrew, James A. Nassur, Elizabeth B. Rand, Bryan L. Krock, Binita M. Kamath, Ian D. Krantz, David A. Piccoli, Kathleen M. Loomes, Nancy B. Spinner - Human Mutation 2019 cited by 148

  8. Mutations in the human Jagged1 gene are responsible for Alagille syndrome

    Authors: Takaya Oda, Abdel Elkahloun, Brian L. Pike, Kazuki Okajima, Ian D. Krantz, Anna Genin, David A. Piccoli, Paul S. Meltzer, Nancy B. Spinner, Francis S. Collins, Settara C. Chandrasekharappa - Nature Genetics 1997 cited by 1,157

  9. Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

    Authors: Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli - Hepatology 1999 cited by 664

  10. Microduplications of 16p11.2 are associated with schizophrenia

    Authors: Shane McCarthy, Vladimir Makarov, George Kirov, Anjené Addington, Jon McClellan, Seungtai Yoon, Diana O. Perkins, Diane E. Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A. Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H. Zackai, Paige Kaplan, Jaya Ganesh, Ian D. Krantz, Nancy B. Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B. Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia M. Iakoucheva, Timothy J. Crow, Susan L. Christian, Jeffrey A. Lieberman, T. Scott Stroup, Terho Lehtimäki, Kaija Puura, Chad Haldeman‐Englert, Justin Pearl, Meredith Goodell, Virginia L. Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J. McMahon, Anil K. Malhotra, James B. Potash, Thomas G. Schulze, Markus M. Nöthen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara Lajonchere, James S. Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R. Mendell, Nick Craddock, Michael J. Owen, Michael O‘Donovan, Tamim H. Shaikh, Ezra Susser, Lynn E. DeLisi, Patrick F. Sullivan, Curtis K. Deutsch, Judith L. Rapoport, Deborah L. Levy, Mary‐Claire King, Jonathan Sebat - Nature Genetics 2009 cited by 736

  11. Notch signaling in human development and disease

    Authors: Andrea Penton, Laura D. Leonard, Nancy B. Spinner - Seminars in Cell and Developmental Biology 2012 cited by 333

  12. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

    Authors: Glen Seidner, Marcela Garcia Alvarez, Jih‐I Yeh, Kevin R. O’Driscoll, Jörg Klepper, Tammy S. Stump, Dong Wang, Nancy B. Spinner, Morris J. Birnbaum, Darryl C. De Vivo - Nature Genetics 1998 cited by 379

  13. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Authors: Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Joseph S Salama, Ragan Hart, Brian H. Shirts, Mitzi L. Murray, Mari Tokita, Carlos J. Gallego, Daniel Seung Kim, James T. Bennett, David R. Crosslin, Jane Ranchalis, Kelly L. Jones, Elisabeth A. Rosenthal, Ella R. Jarvik, Andy Itsara, Emily H. Turner, Daniel S. Herman, Jennifer Schleit, Amber Burt, Seema M. Jamal, Jenica Abrudan, Andrew D. Johnson, Laura K. Conlin, Matthew C. Dulik, Avni Santani, Danielle R. Metterville, Melissa Kelly, Ann Katherine M. Foreman, Kristy Lee, Kent D. Taylor, Xiuqing Guo, Kristy Crooks, Lesli A. Kiedrowski, Leslie J. Raffel, Ora Gordon, Kalotina Machini, Robert J. Desnick, Leslie G. Biesecker, Steven A. Lubitz, Surabhi Mulchandani, Gregory M. Cooper, Steven Joffe, C. Sue Richards, Yaoping Yang, Jerome I. Rotter, Stephen S. Rich, Christopher J. O’Donnell, Jonathan S. Berg, Nancy B. Spinner, James P. Evans, Stephanie M. Fullerton, Kathleen A. Leppig, Robin L. Bennett, Thomas D. Bird, Virginia P. Sybert, William M. Grady, Holly K. Tabor, Jerry H. Kim, Michael J. Bamshad, Benjamin S. Wilfond, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Heidi L. Rehm, Debbie A. Nickerson, Gail P. Jarvik - Genome Research 2015 cited by 369

  14. Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

    Authors: Binita M. Kamath, Wen Ye, Nathan P. Goodrich, Kathleen M. Loomes, René Romero, James E. Heubi, Daniel H. Leung, Nancy B. Spinner, David A. Piccoli, Estella M. Alonso, Stephen L. Guthery, Saul J. Karpen, Cara L. Mack, Jean P. Molleston, Karen F. Murray, Philip Rosenthal, James E. Squires, Jeffrey Teckman, Kasper S. Wang, Richard J. Thompson, John C. Magee, Ronald J. Sokol - Hepatology Communications 2020 cited by 81

  15. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

    Authors: John‐Paul Berauer, Anya Mezina, David T. Okou, Aniko Sabo, Donna M. Muzny, Richard A. Gibbs, Madhuri Hegde, Pankaj Chopra, David J. Cutler, David H. Perlmutter, Laura N. Bull, Richard J. Thompson, Kathleen M. Loomes, Nancy B. Spinner, Ramakrishnan Rajagopalan, Stephen L. Guthery, Barry Moore, Mark Yandell, Sanjiv Harpavat, John C. Magee, Binita M. Kamath, Jean P. Molleston, Jorge A. Bezerra, Karen F. Murray, Estella M. Alonso, Philip Rosenthal, Robert H. Squires, Kasper S. Wang, Milton J. Finegold, Pierre Russo, Averell H. Sherker, Ronald J. Sokol, Saul J. Karpen - Hepatology 2019 cited by 84

  16. A six-attribute classification of geneticmosaicism

    Authors: Víctor Martínez‐Glez, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez‐Laguna, Marta Feito, R. de Lucas, Luis A. Pérez‐Jurado, Víctor L. Ruiz‐Pérez, Antonio Torrelo, Nancy B. Spinner, Rudolf Happle, Leslie G. Biesecker, Pablo Lapunzina - Genetics in Medicine 2020 cited by 83

  17. Vascular Anomalies in Alagille Syndrome

    Authors: Binita M. Kamath, Nancy B. Spinner, Karan M. Emerick, Albert E. Chudley, Carol Booth, David A. Piccoli, Ian D. Krantz - Circulation 2004 cited by 358

  18. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Authors: Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Līvija Medne, Linda M. Ernst, Elaine H. Zackai, Matthew A. Deardorff, Ian D. Krantz, Håkon Håkonarson, Nancy B. Spinner - Human Molecular Genetics 2010 cited by 501

  19. NOTCH2 mutations in Alagille syndrome

    Authors: Binita M. Kamath, Robert C. Bauer, Kathleen M. Loomes, Grace F. Chao, Jennifer Gerfen, Anne Hutchinson, Winita Hardikar, Gideon M. Hirschfield, Paloma Jara, Ian D. Krantz, Pablo Lapunzina, Laura D. Leonard, Simon Ling, Vicky L. Ng, P. Le Hoang, David A. Piccoli, Nancy B. Spinner - Journal of Medical Genetics 2011 cited by 219

  20. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

    Authors: Ragan Hart, Barbara B. Biesecker, Carrie L. Blout Zawatsky, Kurt D. Christensen, Laura M. Amendola, Katie Bergstrom, Sawona Biswas, Kevin M. Bowling, Kyle B. Brothers, Laura K. Conlin, Gregory M. Cooper, Matthew C. Dulik, Kelly M. East, Jessica N. Everett, Candice R. Finnila, Arezou A. Ghazani, Marian J. Gilmore, Katrina A.B. Goddard, Gail P. Jarvik, Jennifer J. Johnston, Tia L. Kauffman, Whitley V. Kelley, Joel B. Krier, Katie L. Lewis, Amy L. McGuire, Carmit K. McMullen, Jeffrey Ou, Sharon E. Plon, Heidi L. Rehm, C. Sue Richards, Edward J. Romasko, Ane Miren Sagardia, Nancy B. Spinner, Michelle L. Thompson, Erin Turbitt, Jason L. Vassy, Benjamin S. Wilfond, David L. Veenstra, Jonathan S. Berg, Robert C. Green, Leslie G. Biesecker, Lucia A. Hindorff - Genetics in Medicine 2018 cited by 162

  21. Total Serum Bilirubin within 3 Months of Hepatoportoenterostomy Predicts Short-Term Outcomes in Biliary Atresia

    Authors: Benjamin L. Shneider, John C. Magee, Saul J. Karpen, Elizabeth B. Rand, Michael R. Narkewicz, Lee M. Bass, Kathleen B. Schwarz, Peter F. Whitington, Jorge A. Bezerra, Nanda Kerkar, Barbara Haber, Philip Rosenthal, Yumirle P. Turmelle, Jean P. Molleston, Karen F. Murray, Vicky L. Ng, Kasper S. Wang, René Romero, Robert H. Squires, Ronen Arnon, Averell H. Sherker, Jeffrey Moore, Wen Ye, Ronald J. Sokol, Estella M. Alonso, Elizabeth Kaurs, Sue Kelly, Kevin E. Bove, James E. Heubi, Alexander Miethke, Greg Tiao, J. Kenneth Denlinger, Andrea Ferris, Amy G. Feldman, Cara L. Mack, Frederick J. Suchy, Shikha S. Sundaram, Johan Van Hove, Michelle Hite, S KANTOR, Todd Q. Miller, J. Joshua Smith, Becky VanWinkle, Kathleen M. Loomes, Henry C. Lin, David A. Piccoli, Pierre Russo, Nancy B. Spinner, Lindsay C. Brown, Emily Elgert, Jessi Erlichman, Feras Alissa, Douglas Lindblad, George Mazariegos, Roberto Ortiz‐Aguayo, David H. Perlmutter, Rakesh Sindhi, Veena Venkat, Jerry Vockley, Kathy Bukauskas, Adam Kufen, Madeline Schulte, Laura N. Bull, Shannon Fleck, Camille Langlois, Jeffery Teckman, Vikki Kociela, Stacy Postma, Kathleen Mullan Harris, Molly Bozic, Girish Subbarao, Beth Byam, Ann Klipsch, Cindy Sawyers, Simon Horslen, Evelyn Hsu, Kara Cooper, Melissa Young, Binita M. Kamath, Maria DeAngelis, Constance M. O’Connor, Krista VanRoestel, Arpita Parmar, Claudia Quammie, Kelsey Hung, Stephen L. Guthery, Kyle Jensen, Ann Rutherford, Nanda Kerker, Sonia Michail, Danny Thomas, Catherine J. Goodhue, Nikita Gupta, Mariam Vos, Liezl de la Cruz-Tracey, Dana Hankerson-Dyson, Rita Tory, Taieshia C. Turner-Green, Allison Wellons, Mary L. Brandt and 16 more - The Journal of Pediatrics 2015 cited by 143

  22. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

    Authors: Julianne O’Daniel, Heather M. McLaughlin, Laura M. Amendola, Sherri J. Bale, Jonathan S. Berg, David Bick, Kevin M. Bowling, Elizabeth Chao, Wendy K. Chung, Laura K. Conlin, Gregory M. Cooper, Soma Das, Joshua L. Deignan, Michael O. Dorschner, James P. Evans, Arezou A. Ghazani, Katrina A.B. Goddard, Michele C. Gornick, Kelly D. Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A. Hindorff, Ingrid A. Holm, Gail P. Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E. Plon, Sumit Punj, C. Sue Richards, Avni Santani, Brian H. Shirts, Nancy B. Spinner, Sha Tang, Karen E. Weck, Susan M. Wolf, Yaping Yang, Heidi L. Rehm - Genetics in Medicine 2016 cited by 87

  23. Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome

    Authors: Doff B. McElhinney, Ian D. Krantz, Lynn Bason, David A. Piccoli, Karan M. Emerick, Nancy B. Spinner, Elizabeth Goldmuntz - Circulation 2002 cited by 308

  24. Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

    Authors: Karan M. Emerick, Ian D. Krantz, Binita M. Kamath, Crystal F. Darling, Delilah Burrowes, Nancy B. Spinner, Peter F. Whitington, David A. Piccoli - Journal of Pediatric Gastroenterology and Nutrition 2005 cited by 124