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Nancy B. Spinner

1992–2025 年に発表

94
論文数
21,175
被引用数
76
h 指数
93
i10 指数

被引用数

Nancy B. Spinner の年別被引用数1955 年: 被引用 6 件1969 年: 被引用 1 件1992 年: 被引用 1 件1993 年: 被引用 8 件1994 年: 被引用 5 件1995 年: 被引用 18 件1996 年: 被引用 13 件1997 年: 被引用 26 件1998 年: 被引用 62 件1999 年: 被引用 110 件2000 年: 被引用 135 件2001 年: 被引用 171 件2002 年: 被引用 155 件2003 年: 被引用 117 件2004 年: 被引用 122 件2005 年: 被引用 103 件2006 年: 被引用 90 件2007 年: 被引用 121 件2008 年: 被引用 114 件2009 年: 被引用 108 件2010 年: 被引用 215 件2011 年: 被引用 258 件2012 年: 被引用 221 件2013 年: 被引用 202 件2014 年: 被引用 146 件2015 年: 被引用 203 件2016 年: 被引用 196 件2017 年: 被引用 180 件2018 年: 被引用 197 件2019 年: 被引用 543 件2020 年: 被引用 519 件2021 年: 被引用 438 件2022 年: 被引用 315 件2023 年: 被引用 161 件2024 年: 被引用 333 件2025 年: 被引用 118 件2026 年: 被引用 3 件1956〜1968 年は被引用が無いため表示していません1970〜1991 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 2,462 件、この内訳の 33.6%イギリス: 引用元論文 582 件、この内訳の 7.9%カナダ: 引用元論文 404 件、この内訳の 5.5%ドイツ: 引用元論文 366 件、この内訳の 5%中国: 引用元論文 359 件、この内訳の 4.9%オランダ: 引用元論文 271 件、この内訳の 3.7%フランス: 引用元論文 265 件、この内訳の 3.6%イタリア: 引用元論文 260 件、この内訳の 3.5%オーストラリア: 引用元論文 245 件、この内訳の 3.3%日本: 引用元論文 197 件、この内訳の 2.7%スペイン: 引用元論文 167 件、この内訳の 2.3%スイス: 引用元論文 136 件、この内訳の 1.9%
0%33.6%その他 22.1%

機関

分野

  • Biochemistry, Genetics and Molecular Biology60.7%
  • Medicine30.5%
  • Neuroscience5.3%
  • Immunology and Microbiology1.1%
  • Agricultural and Biological Sciences0.8%
  • Psychology0.3%
  • その他1.3%

トピック

  • 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%
  • その他72.4%

共著者

全論文

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

    著者: 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 被引用: 2,873

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

    著者: 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 被引用: 1,286

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

    著者: 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 被引用: 898

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

    著者: 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 被引用: 89

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

    著者: 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 被引用: 743

  6. A genomic view of mosaicism and human disease

    著者: Leslie G. Biesecker, Nancy B. Spinner - Nature Reviews Genetics 2013 被引用: 625

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

    著者: 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 被引用: 148

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

    著者: 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 被引用: 1,157

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

    著者: Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli - Hepatology 1999 被引用: 664

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

    著者: 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 被引用: 736

  11. Notch signaling in human development and disease

    著者: Andrea Penton, Laura D. Leonard, Nancy B. Spinner - Seminars in Cell and Developmental Biology 2012 被引用: 333

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

    著者: 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 被引用: 379

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

    著者: 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 被引用: 369

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

    著者: 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 被引用: 81

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

    著者: 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 被引用: 84

  16. A six-attribute classification of geneticmosaicism

    著者: 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 被引用: 83

  17. Vascular Anomalies in Alagille Syndrome

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

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

    著者: 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 被引用: 501

  19. NOTCH2 mutations in Alagille syndrome

    著者: 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 被引用: 219

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

    著者: 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 被引用: 162

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

    著者: 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 ほか 16 名 - The Journal of Pediatrics 2015 被引用: 143

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

    著者: 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 被引用: 87

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

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

  24. Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

    著者: 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 被引用: 124