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Ian D. Krantz

1997–2025 年に発表

117
論文数
23,490
被引用数
79
h 指数
114
i10 指数

被引用数

Ian D. Krantz の年別被引用数1955 年: 被引用 5 件1992 年: 被引用 1 件1997 年: 被引用 4 件1998 年: 被引用 36 件1999 年: 被引用 81 件2000 年: 被引用 95 件2001 年: 被引用 110 件2002 年: 被引用 117 件2003 年: 被引用 75 件2004 年: 被引用 94 件2005 年: 被引用 89 件2006 年: 被引用 77 件2007 年: 被引用 124 件2008 年: 被引用 126 件2009 年: 被引用 137 件2010 年: 被引用 266 件2011 年: 被引用 294 件2012 年: 被引用 278 件2013 年: 被引用 283 件2014 年: 被引用 220 件2015 年: 被引用 225 件2016 年: 被引用 214 件2017 年: 被引用 203 件2018 年: 被引用 211 件2019 年: 被引用 586 件2020 年: 被引用 611 件2021 年: 被引用 598 件2022 年: 被引用 468 件2023 年: 被引用 280 件2024 年: 被引用 469 件2025 年: 被引用 192 件2026 年: 被引用 10 件1956〜1991 年は被引用が無いため表示していません1993〜1996 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 2,698 件、この内訳の 29.8%イギリス: 引用元論文 767 件、この内訳の 8.5%カナダ: 引用元論文 491 件、この内訳の 5.4%ドイツ: 引用元論文 488 件、この内訳の 5.4%中国: 引用元論文 405 件、この内訳の 4.5%オランダ: 引用元論文 393 件、この内訳の 4.3%フランス: 引用元論文 390 件、この内訳の 4.3%イタリア: 引用元論文 370 件、この内訳の 4.1%オーストラリア: 引用元論文 276 件、この内訳の 3%スペイン: 引用元論文 243 件、この内訳の 2.7%日本: 引用元論文 240 件、この内訳の 2.7%スイス: 引用元論文 175 件、この内訳の 1.9%
0%29.8%その他 23.4%

機関

分野

  • Biochemistry, Genetics and Molecular Biology63.4%
  • Medicine25.9%
  • Neuroscience5.1%
  • Computer Science1.6%
  • Health Professions0.9%
  • Immunology and Microbiology0.9%
  • その他2.2%

トピック

  • Genomics and Rare Diseases6.4%
  • Genomic variations and chromosomal abnormalities6.3%
  • Genetics and Neurodevelopmental Disorders3.9%
  • Congenital heart defects research3.3%
  • Genomics and Chromatin Dynamics3%
  • Genetic Associations and Epidemiology2.2%
  • その他74.9%

共著者

全論文

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  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. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

    著者: The NICUSeq Study Group, Ian D. Krantz, Līvija Medne, Jamila Weatherly, K. Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen Fishler, Omar Abdul‐Rahman, Joshua C. Euteneuer, Denise M. Hoover, David Dimmock, John P. Cleary, Lauge Farnaes, Jason Knight, Adam J. Schwarz, Ofelia Vargas-Shiraishi, Kristin Wigby, Neda Zadeh, Marwan Shinawi, Jennifer Wambach, Dustin Baldridge, F. Sessions Cole, Daniel Wegner, Nora Urraca, Shannon Holtrop, Roya Mostafavi, Henry J. Mroczkowski, Enikö K. Pivnick, Jewell C. Ward, Ajay J. Talati, Chester Brown, John W. Belmont, Julia Ortega, Keisha Robinson, W. Tyler Brocklehurst, Denise Perry, Subramanian S. Ajay, R. Tanner Hagelstrom, Maren Bennett, Vani Rajan, Ryan J. Taft - JAMA Pediatrics 2021 被引用: 173

  3. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

    著者: Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, David W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige - Nature 2012 被引用: 586

  4. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    著者: Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković - The American Journal of Human Genetics 2019 被引用: 206

  5. 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

  6. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

    著者: Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sung‐Hae Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian D. Krantz, Sarah E. Noon, Jean P. Pfotenhauer, Thomas M. Morgan, Rocio Moran, Robert C. Pedersen, Margarita Sáenz, Christian P. Schaaf, Patrick Ryan Potts - Molecular Cell 2015 被引用: 210

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

    著者: Gabriel A. Brat, Griffin M. Weber, Nils Gehlenborg, Paul Avillach, Nathan P. Palmer, Luca Chiovato, James J. Cimino, Lemuel R. Waitman, Gilbert S. Omenn, Alberto Malovini, Jason H. Moore, Brett K. Beaulieu-Jones, Valentina Tibollo, Shawn N. Murphy, Sehi L'Yi, Mark S. Keller, Riccardo Bellazzi, David A. Hanauer, Arnaud Serret-Larmande, Alba Gutiérrez-Sacristán, John J. Holmes, Douglas S. Bell, Kenneth D. Mandl, Robert W. Follett, Jeffrey G. Klann, Douglas A. Murad, Luigia Scudeller, Mauro Bucalo, Katie G. Kirchoff, Jean B. Craig, Jihad S. Obeid, Vianney Jouhet, Romain Griffier, Sébastien Cossin, Bertrand Moal, Lav P. Patel, Antonio Bellasi, Hans-Ulrich Prokosch, Detlef Kraska, Piotr Sliz, Amelia L. M. Tan, Kee Yuan Ngiam, Alberto Zambelli, Danielle L. Mowery, Emily Schriver, Batsal Devkota, Robert L. Bradford, Mohamad Daniar, Christel Daniel, Vincent Benoit, Romain Bey, Nicolas Paris, Patricia Serre, Nina Orlova, Julien Dubiel, Martin Hilka, Anne-Sophie Jannot, Stéphane Bréant, Judith Leblanc, Nicolas Griffon, Anita Burgun, Mélodie Bernaux, Arnaud Sandrin, Elisa Salamanca, Sylvie Cormont, Thomas Ganslandt, Tobias Gradinger, Julien Champ, Martin Boeker, Patricia Martel, Loic Estève, Alexandre Gramfort, Olivier Grisel, Damien Leprovost, Thomas Moreau, Gaël Varoquaux, Jill-Jênn Vie, Demian Wassermann, Arthur Mensch, Charlotte Caucheteux, Christian Haverkamp, Guillaume Lemaitre, Silvano Bosari, Ian D. Krantz, Andrew M. South, Tianxi Cai, Isaac S. Kohane - npj Digital Medicine, npj Digit. Medicine 2020 被引用: 215

  13. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

    著者: Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A. Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A. Morris, Małgorzata J.M. Nowaczyk, Helga V. Toriello, Michael J. Bamshad, John C. Carey, Eric Rappaport, Shimako Kawauchi, Arthur D. Lander, Anne L. Calof, Hui-hua Li, Marcella Devoto, Laird G. Jackson - Nature Genetics 2004 被引用: 722

  14. Evolving phenotypes of non-hospitalized patients that indicate long COVID

    著者: Hossein Estiri, Zachary H. Strasser, Gabriel A. Brat, Yevgeniy R. Semenov, James R. Aaron, Giuseppe Agapito, Adem Albayrak, M Alessiani, Danilo F. Amendola, Li L. L. J. Anthony, Bruce J. Aronow, Fatima Ashraf, Andrew M. Atz, Paul Avillach, James Balshi, Brett K. Beaulieu-Jones, Douglas S. Bell, Antonio Bellasi, Riccardo Bellazzi, Vincent Benoît, Michele Beraghi, José Luis Bernal Sobrino, Mélodie Bernaux, Romain Bey, Alvar Blanco Martínez, Martin Boeker, Clara-Lea Bonzel, John A. Booth, Silvano Bòsari, Florence T. Bourgeois, Robert L. Bradford, Gabriel A. Brat, Stéphane Breant, Nicholas W. Brown, William Bryant, Mauro Bucalo, Anita Burgun, Tianxi Cai, Mario Cannataro, Aldo Carmona, Charlotte Caucheteux, Julien Champ, Jin Chen, Krista Chen, Luca Chiovato, Lorenzo Chiudinelli, Kelly Cho, James J. Cimino, Tiago K. Colicchio, Sylvie Cormont, Sébastien Cossin, Jean B. Craig, Juan Luis Cruz-Bermúdez, Jaime Cruz‐Rojo, Arianna Dagliati, Mohamad Daniar, Christel Daniel, Anahita Davoudi, Batsal Devkota, Julien Dubiel, Loïc Estève, Hossein Estiri, Shirley Fan, Robert W Follett, Paula S. Azevedo, Thomas Ganslandt, Noelia García Barrio, Lana X. Garmire, Nils Gehlenborg, Alon Geva, Tobias Gradinger, Alexandre Gramfort, Romain Griffier, Nicolas Griffon, Olivier Grisel, Alba Gutiérrez‐Sacristán, David A. Hanauer, Christian Haverkamp, Bing He, Darren W. Henderson, Martin Hilka, John H. Holmes, Chuan Hong, Petar Horki, Kenneth M. Huling, Meghan R. Hutch, Richard Issitt, Anne‐Sophie Jannot, Vianney Jouhet, Mark S. Keller, Katie Kirchoff, Jeffrey G. Klann, Isaac S. Kohane, Ian D. Krantz, Detlef Kraska, Ashok Krishnamurthy, Sehi L’Yi, Trang T. Le, Judith Leblanc, Andressa R. R. Leite ほか 107 名 - BMC Medicine 2021 被引用: 151

  15. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

    著者: Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong‐hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather M. McLaughlin, Mónica Roselló Piera, Carmen Orellana, Francisco Martı́nez, Alfonso Caro‐Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan‐Khetarpal, Sonal Desai, Sakkubai Naidu, Julien Thévenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer Tarpinian, Jill A. Rosenfeld, Brendan Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine ほか 112 名 - The American Journal of Human Genetics 2018 被引用: 91

  16. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

    著者: Sarah E. Sheppard, Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana J. Slater, Ilona J. Frieden, Thy Huynh, Joseph T.C. Shieh, Ian D. Krantz, Jessenia Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo‐Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Håkon Håkonarson - JCI Insight 2023 被引用: 36

  17. Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

    著者: Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird Jackson, Dale Dorsett, Ian D. Krantz - The American Journal of Human Genetics 2007 被引用: 522

  18. RAD21 Mutations Cause a Human Cohesinopathy

    著者: Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Diana Braunholz, Maren Mönnich, Yuqian Yan, Weizhen Xu, María Concepción Gil‐Rodríguez, Dinah Clark, Håkon Håkonarson, Sara Halbach, Laura Daniela Michelis, Abhinav Rampuria, Eva Rossier, Stephanie Spranger, Lionel Van Maldergem, Sally Ann Lynch, Gabriele Gillessen‐Kaesbach, Hermann‐Josef Lüdecke, Robert G. Ramsay, Michael J. McKay, Ian D. Krantz, Huiling Xu, Julia A. Horsfield, Frank J. Kaiser - The American Journal of Human Genetics 2012 被引用: 270

  19. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    著者: Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Håkon Håkonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, David W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff - Human Molecular Genetics 2014 被引用: 152

  20. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    著者: Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Pauline Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné - Genetics in Medicine 2022 被引用: 51

  21. Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

    著者: Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio - Human Mutation 2013 被引用: 193

  22. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

    著者: Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C. Edmondson, Sarah E. Noon, Matthew C. Dulik, Ramakrishnan Rajagopalan, Charles P. Venditti, Karen W. Gripp, Joy Samanich, Elaine H. Zackai, Matthew A. Deardorff, Dinah Clark, Julian L. Allen, Dale Dorsett, Ziva Misulovin, Makiko Komata, Masashige Bando, Maninder Kaur, Yuki Katou, Katsuhiko Shirahige, Ian D. Krantz - Nature Genetics 2015 被引用: 149

  23. Rare Variants Create Synthetic Genome-Wide Associations

    著者: Samuel P. Dickson, Kai Wang, Ian D. Krantz, Håkon Håkonarson, David B. Goldstein - PLoS Biology 2010 被引用: 868

  24. 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