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Lisa G. Shaffer

1993–2019 年に発表

別表記
Lisa G Shaffer
135
論文数
25,822
被引用数
98
h 指数
135
i10 指数

被引用数

Lisa G. Shaffer の年別被引用数1955 年: 被引用 4 件1992 年: 被引用 2 件1993 年: 被引用 1 件1994 年: 被引用 2 件1995 年: 被引用 16 件1996 年: 被引用 30 件1997 年: 被引用 38 件1998 年: 被引用 32 件1999 年: 被引用 42 件2000 年: 被引用 68 件2001 年: 被引用 70 件2002 年: 被引用 103 件2003 年: 被引用 118 件2004 年: 被引用 115 件2005 年: 被引用 147 件2006 年: 被引用 138 件2007 年: 被引用 170 件2008 年: 被引用 211 件2009 年: 被引用 168 件2010 年: 被引用 229 件2011 年: 被引用 278 件2012 年: 被引用 325 件2013 年: 被引用 350 件2014 年: 被引用 265 件2015 年: 被引用 314 件2016 年: 被引用 218 件2017 年: 被引用 189 件2018 年: 被引用 181 件2019 年: 被引用 472 件2020 年: 被引用 432 件2021 年: 被引用 409 件2022 年: 被引用 290 件2023 年: 被引用 180 件2024 年: 被引用 305 件2025 年: 被引用 99 件2026 年: 被引用 5 件1956〜1991 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 2,331 件、この内訳の 29.5%イギリス: 引用元論文 670 件、この内訳の 8.5%ドイツ: 引用元論文 437 件、この内訳の 5.5%カナダ: 引用元論文 428 件、この内訳の 5.4%中国: 引用元論文 387 件、この内訳の 4.9%フランス: 引用元論文 353 件、この内訳の 4.5%オランダ: 引用元論文 336 件、この内訳の 4.3%イタリア: 引用元論文 321 件、この内訳の 4.1%オーストラリア: 引用元論文 255 件、この内訳の 3.2%日本: 引用元論文 200 件、この内訳の 2.5%スペイン: 引用元論文 199 件、この内訳の 2.5%ベルギー: 引用元論文 165 件、この内訳の 2.1%
0%29.5%その他 23%

機関

分野

  • Biochemistry, Genetics and Molecular Biology61.8%
  • Medicine24.4%
  • Neuroscience9.5%
  • Agricultural and Biological Sciences2%
  • Psychology0.7%
  • Immunology and Microbiology0.7%
  • その他0.9%

トピック

  • Genomic variations and chromosomal abnormalities13.2%
  • Genetics and Neurodevelopmental Disorders6.7%
  • Prenatal Screening and Diagnostics6.4%
  • Genomics and Rare Diseases5.4%
  • Congenital heart defects research5.2%
  • Chromosomal and Genetic Variations3.4%
  • その他59.7%

共著者

全論文

検索で開く
  1. Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

    著者: Ronald J. Wapner, Christa Lese Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia Zachary, Melissa Savage, Lawrence D. Platt, Daniel H. Saltzman, William A. Grobman, Susan Klugman, Thomas Scholl, Joe Leigh Simpson, Kimberly McCall, Vimla S. Aggarwal, Brian Bunke, Odelia Nahum, Ankita Patel, Allen N. Lamb, Elizabeth Thom, Arthur L. Beaudet, David H. Ledbetter, Lisa G. Shaffer, Laird Jackson - New England Journal of Medicine 2012 被引用: 1,424

  2. A copy number variation morbidity map of developmental delay

    著者: Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles A. Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel‐Hamid, Patricia I. Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen A. Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome L. Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler - Nature Genetics 2011 被引用: 1,404

  3. Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

    著者: Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant, Francesca Antonacci, Tina Graves, Mikhail Nefedov, Jill A. Rosenfeld, Saba Sajjadian, Maika Malig, Holland Kotkiewicz, Cynthia J. Curry, Susan Shafer, Lisa G. Shaffer, Pieter J. de Jong, Richard K. Wilson, Evan E. Eichler - Cell 2012 被引用: 439

  4. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

    著者: Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz - Human Molecular Genetics 2013 被引用: 166

  5. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    著者: Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella - Cell 2012 被引用: 604

  6. Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    著者: Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen A. Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis Escobar, Dima El‐Khechen, Kisha Johnson, Robert Roger Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura Martin, Carol L. Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler - New England Journal of Medicine 2012 被引用: 634

  7. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    著者: Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler - Nature Genetics 2010 被引用: 674

  8. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

    著者: Angela L. Duker, Blake C. Ballif, Erawati V. Bawle, Richard Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan N. Traylor, Bassem A. Bejjani, Lisa G. Shaffer, Jill A. Rosenfeld, Allen N. Lamb, Trilochan Sahoo - European Journal of Human Genetics 2010 被引用: 320

  9. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

    著者: Lisa G. Shaffer, Jill A. Rosenfeld, Mindy Preston Dabell, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif, Allan J. Fisher - Prenatal Diagnosis 2012 被引用: 271

  10. Estimates of penetrance for recurrent pathogenic copy-number variations

    著者: Jill A. Rosenfeld, Bradley P. Coe, Evan E. Eichler, Howard Cuckle, Lisa G. Shaffer - Genetics in Medicine 2012 被引用: 433

  11. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

    著者: Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban, Xiao–Ning Chen, Maya Kasowski, Li Dai, Fabian Grubert, Chandra Erdman, Michael Gao, K. LANGE, Eric M. Sobel, Gillian M. Barlow, Arthur S. Aylsworth, Nancy J. Carpenter, Robin D. Clark, Monika Cohen, Eric Doran, Tzipora C. Falik‐Zaccai, Susan O. Lewin, Ira T. Lott, Barbara McGillivray, John B. Moeschler, Mark J. Pettenati, Siegfried M. Pueschel, Kathleen W. Rao, Lisa G. Shaffer, Mordechai Shohat, Alexander J. Van Riper, Dorothy Warburton, Sherman M. Weissman, Mark Gerstein, M Snyder, Julie R. Korenberg - National Academy of Sciences, Proceedings of the National Academy of Sciences 2009 被引用: 397

  12. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

    著者: Francesca Antonacci, Megan Y. Dennis, John Huddleston, Peter H. Sudmant, Karyn Meltz Steinberg, Jill A. Rosenfeld, Mattia Miroballo, Tina Graves, Laura Vives, Maika Malig, Laura Denman, Archana N. Raja, Andrew B. Stuart, Joyce Tang, Brenton P. Munson, Lisa G. Shaffer, Chris T. Amemiya, Richard K. Wilson, Evan E. Eichler - Nature Genetics 2014 被引用: 155

  13. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    著者: Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea - The American Journal of Human Genetics 2011 被引用: 246

  14. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

    著者: Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine Harris, Susan Winter, Yves Lacassie, Martin G. Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry‐Kravis, Brenda E. Porter, Marni J. Falk, Anu Venkat, Rena Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh - Neurogenetics 2013 被引用: 111

  15. Chromosome Abnormalities and Genetic Counseling

    著者: R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer - Oxford University Press eBooks 2011 被引用: 867

  16. Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    著者: Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith - The American Journal of Human Genetics 2009 被引用: 536

  17. Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

    著者: Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B. Benson, Ian Blumenthal, Susan A. Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker, Jill A. Rosenfeld, Lisa G. Shaffer, Louise Wilkins‐Haug, James F. Gusella, Cynthia C. Morton - New England Journal of Medicine 2012 被引用: 199

  18. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

    著者: Kasper Lage, Steven C. Greenway, Jill A. Rosenfeld, Hiroko Wakimoto, Joshua Gorham, Ayellet V. Segrè, Amy E. Roberts, Leslie Smoot, William T. Pu, Alexandre C. Pereira, Sonia M Mesquita, Niels Tommerup, Søren Brunak, Blake C. Ballif, Lisa G. Shaffer, Patricia K. Donahoe, Mark J. Daly, Jonathan G. Seidman, Christine E. Seidman, Lars Allan Larsen - National Academy of Sciences, Proceedings of the National Academy of Sciences 2012 被引用: 152

  19. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

    著者: Maria Nicla Loviglio, Marion Leleu, Katrin Männik, Marzia Passeggeri, Giuliana Giannuzzi, Inge van der Werf, Sebastian M. Waszak, Marianna Zazhytska, I Roberts-Caldeira, Nele Gheldof, Eugenia Migliavacca, Ali Abdullah Alfaiz, Loyse Hippolyte, Anne Maillard, Anke Van Dijck, R. Frank Kooy, Damien Sanlaville, Jill A. Rosenfeld, Lisa G. Shaffer, Joris Andrieux, C. Marshall, Stephen W. Scherer, Yiping Shen, James F. Gusella, U. Thorsteinsdottir, Guðmar Þorleifsson, Emmanouil T. Dermitzakis, Bart Deplancke, J. Beckmann, Jacques Rougemont, Sébastien Jacquemont, Alexandre Reymond - Molecular Psychiatry 2016 被引用: 124

  20. Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

    著者: A. Simons, Lisa G. Shaffer, Ros Hastings - Cytogenetic and Genome Research 2013 被引用: 247

  21. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    著者: Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif - Journal of Neurodevelopmental Disorders 2009 被引用: 208

  22. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    著者: Jonathan L A Callaway, Lisa G. Shaffer, Lyn S. Chitty, Jill A. Rosenfeld, John A. Crolla - Prenatal Diagnosis 2013 被引用: 180

  23. Disorders caused by chromosome abnormalities

    著者: Lisa G. Shaffer, Theisen - The Application of Clinical Genetics 2010 被引用: 92

  24. Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

    著者: Karen Hermetz, Scott Newman, Karen N. Conneely, Christa L. Martin, Blake C. Ballif, Lisa G. Shaffer, Jannine D. Cody, M. Katharine Rudd - PLoS Genetics 2014 被引用: 84