Alan F. Scott
1974–2022 年に発表
- 50
- 論文数
- 19,204
- 被引用数
- 43
- h 指数
- 48
- i10 指数
被引用数
引用元
国・地域
機関
- Harvard University1.1%
- Johns Hopkins University0.9%
- Broad Institute0.7%
- National Institutes of Health0.6%
- Inserm0.6%
- Johns Hopkins Medicine0.6%
- その他95.5%
分野
- Biochemistry, Genetics and Molecular Biology60.2%
- Medicine18.8%
- Agricultural and Biological Sciences7.3%
- Computer Science7%
- Neuroscience1.8%
- Immunology and Microbiology1.6%
- その他3.3%
トピック
- Bioinformatics and Genomic Networks7%
- Genomics and Rare Diseases6.1%
- Biomedical Text Mining and Ontologies3.7%
- Computational Drug Discovery Methods3.5%
- Chromosomal and Genetic Variations2.7%
- Genetic Associations and Epidemiology2.7%
- その他74.3%
共著者
- Ingo Ruczinski12
- Terri H. Beaty12
- Jacqueline B. Hetmanski8
- Ada Hamosh7
- Ethylin Wang Jabs6
- Jeffrey C. Murray6
- Mary L. Marazita6
- Joanna Amberger5
- Kimberly F. Doheny5
- Kurt N. Hetrick5
- Margaret A. Taub5
- Yah‐Huei Wu‐Chou5
- Candelaria Vergara4
- David W. Mohr4
- H H Kazazian4
- Holger Schwender4
- Nicholas Rafaels4
- Philip K. Chen4
- Rasika A. Mathias4
- Victor A. McKusick4
- Albert M. Levin3
- Beth A. Dombroski3
- Carol A. Bocchini3
- Carol Bocchini3
全論文
- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
著者: Joanna S. Amberger, Carol A. Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh - Nucleic Acids Research, Nucleic Acids Res. 2014 被引用: 2,704
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
著者: Ada Hamosh, Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini, David Valle, Victor A. McKusick - Nucleic Acids Research, Nucleic Acids Res. 2002 被引用: 3,512
- OMIM.org: leveraging knowledge across phenotype-gene relationships
著者: Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh - Nucleic Acids Research, Nucleic Acids Res. 2018 被引用: 1,077
- Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
著者: Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan F. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg - The American Journal of Human Genetics 2017 被引用: 564
- Online Mendelian Inheritance In Man (OMIM)
著者: Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle‐García, Victor A. McKusick - Human Mutation 2000 被引用: 1,172
- Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
著者: Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan F. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer - Journal of the American College of Cardiology 2018 被引用: 302
- Detectable clonal mosaicism from birth to old age and its relationship to cancer
著者: Cathy C. Laurie, Cecelia Laurie, Kenneth Rice, Kimberly F. Doheny, Leila R. Zelnick, Caitlin McHugh, Hua Ling, Kurt N. Hetrick, Elizabeth Pugh, Chris Amos, Qingyi Wei, Lie Wang, Jeffrey E. Lee, Kathleen C. Barnes, Nadia N. Hansel, Rasika A. Mathias, Denise Daley, Terri H. Beaty, Alan F. Scott, Ingo Ruczinski, Rob Scharpf, Laura J. Bierut, Sarah M. Hartz, Maria Teresa Landi, Neal D. Freedman, Lynn R. Goldin, David Ginsburg, Jun Li, Karl C. Desch, Sara S. Strom, William J. Blot, Lisa B. Signorello, Sue A. Ingles, Stephen J. Chanock, Sonja I. Berndt, Loı̈c Le Marchand, Brian E. Henderson, Kristine R. Monroe, John A. Heit, Mariza de Andrade, Sebastian M. Armasu, C Régnier, William L. Lowe, M. Geoffrey Hayes, Mary L. Marazita, Eleanor Feingold, Jeffrey C. Murray, Mads Melbye, Bjarke Feenstra, Jae H. Kang, Janey L. Wiggs, Gail P. Jarvik, Andrew McDavid, Venkatraman Seshan, Daniel B. Mirel, Andrew Crenshaw, Nataliya Sharopova, Anastasia L. Wise, Jess Shen, David R. Crosslin, David Levine, Xiuwen Zheng, Jenna Udren, Siiri Bennett, Sarah C. Nelson, Stephanie M. Gogarten, Matthew P. Conomos, Patrick J. Heagerty, Teri A. Manolio, Louis R. Pasquale, Christopher A. Haiman, Neil E. Caporaso, Bruce S. Weir - Nature Genetics 2012 被引用: 599
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
著者: Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2015 被引用: 688
- Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
著者: Haig H. Kazazian, Corinne Wong, Hagop Youssoufian, Alan F. Scott, Deborah G. Phillips, Stylianos E. Antonarakis - Nature 1988 被引用: 933
- Reverse Transcriptase Encoded by a Human Transposable Element
著者: Stephen L. Mathias, Alan F. Scott, Haig H. Kazazian, Jef D. Boeke, Abram Gabriel - Science 1991 被引用: 797
- McKusick's Online Mendelian Inheritance in Man (OMIM®)
著者: Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh - Nucleic Acids Research, Nucleic Acids Res. 2008 被引用: 730
- Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus
著者: Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen - American Journal of Medical Genetics Part A 2021 被引用: 168
- Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing
著者: Hollis A. Dahn, Jacquelyn Mountcastle, Jennifer Balacco, Sylke Winkler, Iliana Bista, Anthony D. Schmitt, Olga Vinnere Pettersson, Giulio Formenti, Karen Oliver, Michelle Smith, Wenhua Tan, Anne Kraus, Stephen Mac, Lisa M. Komoroske, Tanya M. Lama, Andrew J. Crawford, Robert W. Murphy, Samara Brown, Alan F. Scott, Phillip A. Morin, Erich D. Jarvis, Olivier Fédrigo - GigaScience 2022 被引用: 45
- A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
著者: Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker, Adam H. Buchanan, Brian C. Jensen, Kristy Lee, Christa Lese Martin, Laura V. Milko, Kristin R. Muessig, Annie Niehaus, Julianne O’Daniel, Margaret Piper, Erin M. Ramos, Sheri D. Schully, Alan F. Scott, Anne Slavotinek, Nara Sobreira, Natasha T. Strande, Meredith Weaver, Elizabeth M. Webber, Marc S. Williams, Jonathan S. Berg, James P. Evans, Katrina A.B. Goddard - Genetics in Medicine 2016 被引用: 152
- Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
著者: Kerstin U. Ludwig, Elisabeth Mangold, Stefan Herms, Stefanie Nowak, Heiko Reutter, Anna Paul, Jessica Becker, Ruth Herberz, Taofik AlChawa, Entessar Nasser, Anne C. Böhmer, Manuel Mattheisen, Margrieta A Alblas, Sandra Barth, Nadine Kluck, Carola Lauster, Bert Braumann, Rudolf H. Reich, Alexander Hemprich, Simone Pötzsch, Bettina Blaumeiser, Nikolaos Daratsianos, Thomas Kreusch, Jeffrey C. Murray, Mary L. Marazita, Ingo Ruczinski, Alan F. Scott, Terri H. Beaty, Franz-Josef Kramer, Thomas F. Wienker, Régine P.M. Steegers‐Theunissen, Michele Rubini, Peter Mossey, Per Hoffmann, Christoph Lange, Sven Cichon, Peter Propping, Michael Knapp, Markus M. Nöthen - Nature Genetics 2012 被引用: 361
- Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
著者: Michelle Daya, Nicholas Rafaels, Tonya M. Brunetti, Sameer Chavan, Albert M. Levin, Aniket Shetty, Christopher R. Gignoux, Meher Preethi Boorgula, Genevieve L. Wojcik, Monica Campbell, Candelaria Vergara, Dara G. Torgerson, Victor E. Ortega, Ayo P. Doumatey, H. Richard Johnston, Nathalie Acevedo, Maria Ilma Araújo, Pedro C. Avila, Gillian M. Belbin, Eugene R. Bleecker, Carlos D. Bustamante, Luis Caraballo, Ãlvaro A. Cruz, Georgia M. Dunston, Celeste Eng, Mezbah U. Faruque, Trevor S. Ferguson, Camila Alexandrina Figueiredo, Jean G. Ford, Weiniu Gan, Pierre‐Antoine Gourraud, Nadia N. Hansel, Ryan D. Hernandez, Edwin Francisco Herrera-Paz, Silvia Jiménez, Eimear E. Kenny, Jennifer Knight‐Madden, Rajesh Kumar, Leslie A. Lange, Ethan M. Lange, Antoine Lizée, Pissamai Maul, Trevor Maul, Alvaro Mayorga, Deborah A. Meyers, Dan L. Nicolae, Timothy D. O’Connor, Ricardo Riccio Oliveira, Christopher O. Olopade, Olufunmilayo I. Olopade, Zhaohui Qin, Charles N. Rotimi, Nicolas Vince, Harold Watson, Rainford Wilks, James G. Wilson, Steven L. Salzberg, Carole Ober, Esteban G. Burchard, L. Keoki Williams, Terri H. Beaty, Margaret A. Taub, Ingo Ruczinski, Rasika A. Mathias, Kathleen C. Barnes, CAAPA, Ayôla Akim Adégnika, Ganiyu Arinola, Ulysse Ateba-Ngoa, Gerardo Ayestas, Hrafnhildur Bjarnadóttir, Adolfo Correa, Said Omar Leiva Erazo, Marilyn G. Foreman, Cassandra Foster, Li Gao, Jingjing Gao, Leslie C. Grammer, Mark Hansen, Tina V. Hartert, Yi‐Juan Hu, Iain R. Konigsberg, Kwang‐Youn A. Kim, Pamela Landaverde-Torres, Javier Marrugo, B. Martínez, Rosella Martinez, L Mayorga, Delmy-Aracely Mejia-Mejia, Catherine Meza, Solomon K. Musani, Shaila Musharoff, Oluwafemi Oluwole, Maria Pino‐Yanes, Hector Ramos, Allan Saenz, Maureen Samms‐Vaughan, R.P. Schleimer, Alan F. Scott, Suyash Shringarpure ほか 8 名 - Nature Communications 2019 被引用: 102
- A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
著者: Rasika A. Mathias, Margaret A. Taub, Christopher R. Gignoux, Wenqing Fu, Shaila Musharoff, Timothy D. O’Connor, Candelaria Vergara, Dara G. Torgerson, Maria Pino‐Yanes, Suyash Shringarpure, Lili Huang, Nicholas Rafaels, Meher Preethi Boorgula, H. Richard Johnston, Victor E. Ortega, Albert M. Levin, Wei Song, Raúl Torres, Badri Padhukasahasram, Celeste Eng, Delmy-Aracely Mejia-Mejia, Trevor S. Ferguson, Zhaohui Qin, Alan F. Scott, Maria Yazdanbakhsh, James G. Wilson, Javier Marrugo, Leslie A. Lange, Rajesh Kumar, Pedro C. Avila, L. Keoki Williams, Harold Watson, Lorraine B. Ware, Christopher O. Olopade, Olufunmilayo I. Olopade, Ricardo Riccio Oliveira, Carole Ober, Dan L. Nicolae, Deborah A. Meyers, Alvaro Mayorga, Jennifer Knight‐Madden, Tina V. Hartert, Nadia N. Hansel, Marilyn G. Foreman, Jean G. Ford, Mezbah U. Faruque, Georgia M. Dunston, Luis Caraballo, Esteban G. Burchard, Eugene R. Bleecker, Maria Ilma Araújo, Edwin Francisco Herrera-Paz, Kimberly Gietzen, Wendy E. Grus, Michael J. Bamshad, Carlos D. Bustamante, Eimear E. Kenny, Ryan D. Hernandez, Terri H. Beaty, Ingo Ruczinski, Joshua M. Akey, CAAPA, Monica Campbell, Sameer Chavan, Cassandra Foster, Li Gao, Edward A. Horowitz, Romina Ortiz, Joseph Potee, Jingjing Gao, Yi‐Juan Hu, Mark Hansen, Aniket Deshpande, Devin P. Locke, Leslie C. Grammer, Kwang-YounA Kim, Robert P. Schleimer, Francisco M. De La Vega, Zachary A. Szpiech, Oluwafemi Oluwole, Ganiyu Arinola, Adolfo Correa, Solomon K. Musani, Jessica X. Chong, Deborah A. Nickerson, Alex P. Reiner, Pissamai Maul, Trevor Maul, B. Martínez, Catherine Meza, Gerardo Ayestas, Pamela Landaverde-Torres, Said Omar Leiva Erazo, Rosella Martinez, L Mayorga, Hector Ramos, Allan Saenz, Gloria Varela, Olga Marina Vasquez, Maureen Samms‐Vaughan ほか 4 名 - Nature Communications 2016 被引用: 185
- Mutations in Alström protein impair terminal differentiation of cardiomyocytes
著者: Lincoln T. Shenje, Peter Andersen, Marc K. Halushka, Cecillia Lui, Laviel Fernandez, Gayle B. Collin, Nuria Amat‐Alarcon, Wendy S. Meschino, Ernest Cutz, Kenneth Tou En Chang, Raluca Yonescu, Denise Batista, Yan Chen, Stephen P. Chelko, Jane E. Crosson, Janet Scheel, Luca A. Vricella, Brian Craig, Beth Marosy, David W. Mohr, Kurt N. Hetrick, Jane Romm, Alan F. Scott, David Valle, Jürgen Κ. Naggert, Chulan Kwon, Kimberly F. Doheny, Daniel P. Judge - Nature Communications 2014 被引用: 90
- A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
著者: Terri H. Beaty, Jeffrey C. Murray, Mary L. Marazita, Ronald G. Munger, Ingo Ruczinski, Jacqueline B. Hetmanski, Kung Yee Liang, Tao Wu, Tanda Murray, M. Daniele Fallin, Richard Redett, Gerald V. Raymond, Holger Schwender, Sheng Chih Jin, Margaret E. Cooper, Martine Dunnwald, M. Adela Mansilla, Elizabeth J. Leslie, Stephen Bullard, Andrew C. Lidral, Lina M. Moreno, Renato Menezes, Alexandre R. Vieira, Aline Petrin, Allen J. Wilcox, Rolv T. Lie, Ethylin Wang Jabs, Yah Huei Wu‐Chou, Philip K. Chen, Hong Wang, Xiaoqian Ye, Shangzhi Huang, Vincent Yeow, Samuel S. Chong, Sun Ha Jee, Bing Shi, Kaare Christensen, Mads Melbye, Kimberly F. Doheny, Elizabeth Pugh, Hua Ling, Eduardo E. Castilla, Andrew E. Czeizel, Lian Ma, L. Leigh Field, Lawrence C. Brody, Faith Pangilinan, James L. Mills, Anne M. Molloy, Peadar N. Kirke, John M. Scott, Mauricio Arcos‐Burgos, Alan F. Scott - Nature Genetics 2010 被引用: 594
- Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
著者: Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly Sauls, Russell A. Norris, Nicholas D Huso, Dan Leahy, David W. Mohr, Mark J. Caulfield, Alan F. Scott, Anne Destrèe, Raoul C. M. Hennekam, Pamela Arn, Cynthia J. Curry, Lut Van Laer, Andrew S. McCallion, Bart Loeys, Harry C. Dietz - Nature Genetics 2012 被引用: 262
- Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
著者: Elizabeth J. Leslie, Margaret A. Taub, Huan Liu, Karyn Meltz Steinberg, Daniel C. Koboldt, Qunyuan Zhang, Jenna C. Carlson, Jacqueline B. Hetmanski, Hang Wang, David E. Larson, Robert S. Fulton, Youssef A. Kousa, Walid D. Fakhouri, Ali Naji, Ingo Ruczinski, Ferdouse Begum, Margaret M. Parker, Tamara Busch, Jennifer Standley, Jennifer Rigdon, Jacqueline T. Hecht, Alan F. Scott, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.‐B. Deleyiannis, Brian C. Schutte, Richard K. Wilson, Robert A. Cornell, Andrew C. Lidral, George M. Weinstock, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray - The American Journal of Human Genetics 2015 被引用: 173
- Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis
著者: Hai-De Qin, Xiaoyu Liao, Yuanbin Chen, Shao-Yi Huang, Wen-Qiong Xue, Fangfang Li, Xiao-Song Ge, De-Qing Liu, Qiuyin Cai, Jirong Long, Xi-Zhao Li, Ye-Zhu Hu, Shao-Dan Zhang, Lan-Jun Zhang, Benjamin Lehrman, Alan F. Scott, Dongxin Lin, Yi-Xin Zeng, Yin Yao Shugart, Wei-Hua Jia - The American Journal of Human Genetics 2016 被引用: 148
- A novel canis lupus familiaris reference genome improves variant resolution for use in breed-specific GWAS
著者: Robert A. Player, Ellen R. Forsyth, Kathleen Verratti, David W. Mohr, Alan F. Scott, Christopher Bradburne - Life Science Alliance 2021 被引用: 19
- Isolation of an Active Human Transposable Element
著者: Beth A. Dombroski, Stephen L. Mathias, Elizabeth Nanthakumar, Alan F. Scott, Haig H. Kazazian - Science 1991 被引用: 449
