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Joshua D. Smith

Active 1976–2025

95
Papers
23,874
Citations
61
h-index
88
i10-index

Citations

Citations per year for Joshua D. Smith1955: 1 citations1972: 1 citations1974: 2 citations1976: 1 citations1977: 3 citations1979: 1 citations1981: 2 citations1985: 1 citations1988: 2 citations1989: 1 citations1991: 5 citations1993: 1 citations1995: 1 citations1998: 1 citations1999: 5 citations2000: 18 citations2001: 17 citations2002: 17 citations2003: 27 citations2004: 64 citations2005: 50 citations2006: 29 citations2007: 23 citations2008: 74 citations2009: 122 citations2010: 153 citations2011: 294 citations2012: 300 citations2013: 323 citations2014: 367 citations2015: 413 citations2016: 386 citations2017: 441 citations2018: 360 citations2019: 883 citations2020: 811 citations2021: 735 citations2022: 593 citations2023: 403 citations2024: 638 citations2025: 305 citations2026: 20 citations1956–1971: no citations, so these years are not shown1973: no citations, so this year is not shown1975: no citations, so this year is not shown1978: no citations, so this year is not shown1980: no citations, so this year is not shown1982–1984: no citations, so these years are not shown1986–1987: no citations, so these years are not shown1990: no citations, so this year is not shown1992: no citations, so this year is not shown1994: no citations, so this year is not shown1996–1997: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 4,244 citing papers, 26.6% of this breakdownUnited Kingdom: 1,301 citing papers, 8.2% of this breakdownChina: 962 citing papers, 6% of this breakdownGermany: 821 citing papers, 5.1% of this breakdownCanada: 736 citing papers, 4.6% of this breakdownNetherlands: 657 citing papers, 4.1% of this breakdownFrance: 573 citing papers, 3.6% of this breakdownItaly: 568 citing papers, 3.6% of this breakdownAustralia: 499 citing papers, 3.1% of this breakdownSweden: 439 citing papers, 2.8% of this breakdownSpain: 422 citing papers, 2.6% of this breakdownJapan: 304 citing papers, 1.9% of this breakdown
0%26.6%Other 27.8%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology57.2%
  • Medicine25.2%
  • Neuroscience8.9%
  • Pharmacology, Toxicology and Pharmaceutics1.5%
  • Immunology and Microbiology1.4%
  • Agricultural and Biological Sciences1.1%
  • Other4.7%

Topics

  • Genetic Associations and Epidemiology6.5%
  • Genomics and Rare Diseases5.6%
  • Genetics and Neurodevelopmental Disorders4.9%
  • Genomic variations and chromosomal abnormalities4.3%
  • Autism Spectrum Disorder Research3.3%
  • Epigenetics and DNA Methylation2%
  • Other73.4%

Coauthors

All papers

Open in search
  1. Genomic data in the All of Us Research Program

    Authors: Manuscript Writing Group, Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura, Robert J. Carroll, Anjene Musick, Jodell E. Linder, I. King Jordan, Shashwat Deepali Nagar, Shivam Sharma, Robert Meller, Melissa Basford, Eric Boerwinkle, Mine Cicek, Kimberly F. Doheny, Evan E. Eichler, Stacey Gabriel, Richard A. Gibbs, David Glazer, Paul A. Harris, Gail P. Jarvik, Anthony Philippakis, Heidi L. Rehm, Dan M. Roden, Stephen N. Thibodeau, Scott Topper, Biobank, Mayo, Ashley L. Blegen, Samantha J. Wirkus, Victoria A. Wagner, Jeffrey G. Meyer, Mine Cicek, Donna M. Muzny, Eric Venner, Michelle Mawhinney, Sean Griffith, Elvin Hsu, Hua Ling, Marcia K. Adams, Kimberly Walker, Taobo Hu, HarshaVardhan Doddapaneni, Christie Kovar, Mullai Murugan, Shannon Dugan, Ziad Khan, Eric Boerwinkle, Niall J. Lennon, Christina Austin‐Tse, Eric Banks, Michael Gatzen, Namrata Gupta, Emma Henricks, Katie Larsson, Sheli McDonough, Steven M. Harrison, Christopher Kachulis, Matthew S. Lebo, Cynthia L. Neben, Marcie Steeves, Alicia Y. Zhou, Joshua D. Smith, Christian D. Frazar, Colleen Davis, Karynne Patterson, Marsha M. Wheeler, Sean McGee, Christina M. Lockwood, Brian H. Shirts, Colin C. Pritchard, Mitzi L. Murray, Valeria Vasta, Dru F. Leistritz, M Richardson, Jillian G. Buchan, Aparna Radhakrishnan, Niklas Krumm, Brenna Ehmen, Sophie Schwartz, M. Morgan T. Aster, Kristian Cibulskis, Andrea Haessly, Rebecca Asch, Aurora Cremer, Kylee Degatano, Akum Shergill, Laura D. Gauthier, Samuel K. Lee, Aaron Hatcher, George Grant, Genevieve R. Brandt, Miguel Covarrubias, Eric Banks, Ashley Able, Ashley E. Green, Robert J. Carroll, Jennifer Zhang, Henry Robert Condon and 15 more - Nature 2024 cited by 795

  2. The contribution of de novo coding mutations to autism spectrum disorder

    Authors: Ivan Iossifov, Brian J. O'Roak, Stephan J. Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A. Stessman, Kali T. Witherspoon, Laura Vives, Karynne E. Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis E. Gonzalez, Jeffrey D. Mandell, Shrikant M. Mane, Michael T. Murtha, Catherine A. Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoon-ha Lee, Ewa Grabowska, Ertugrul Dalkic, Zi-Hua Wang, Steven Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler - Nature, Nat. 2014 cited by 2,823

  3. Biological, clinical and population relevance of 95 loci for blood lipids

    Authors: Tanya M. Teslovich, Kiran Musunuru, Albert V. Smith, Andrew C. Edmondson, Ioannis M. Stylianou, Masahiro Koseki, James P. Pirruccello, Samuli Ripatti, Daniel I. Chasman, Cristen J. Willer, Christopher T. Johansen, Sigrid W. Fouchier, Aaron Isaacs, Gina M. Peloso, Maja Barbalić, Sally L. Ricketts, Joshua C. Bis, Yurii S. Aulchenko, Guðmar Þorleifsson, Mary F. Feitosa, John C. Chambers, Marju Orho‐Melander, Olle Melander, Toby Johnson, Xiaohui Li, Xiuqing Guo, Mingyao Li, Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jong‐Young Lee, Taesung Park, Kyunga Kim, Xueling Sim, Rick Twee‐Hee Ong, Damien C. Croteau‐Chonka, Leslie A. Lange, Joshua D. Smith, Kijoung Song, Jing Hua Zhao, Xin Yuan, Jian’an Luan, Claudia Lamina, Andreas Ziegler, Weihua Zhang, Robert Y.L. Zee, Alan F. Wright, Jacqueline C.M. Witteman, James F. Wilson, Gonneke Willemsen, H.‐Erich Wichmann, John B. Whitfield, Dawn Waterworth, Nicholas J. Wareham, Gérard Waeber, Péter Vollenweider, Benjamin F. Voight, Véronique Vitart, André G. Uitterlinden, Manuela Uda, Jaakko Tuomilehto, John R. Thompson, Toshiko Tanaka, Ida Surakka, Heather M. Stringham, Tim D. Spector, Nicole Soranzo, Johannes H. Smit, Juha Sinisalo, Kaisa Silander, Eric J.G. Sijbrands, Angelo Scuteri, James Scott, David Schlessinger, Serena Sanna, Veikko Salomaa, Juha Saharinen, Chiara Sabatti, Aimo Ruokonen, Igor Rudan, Lynda M. Rose, Robert Roberts, Mark J. Rieder, Bruce M. Psaty, Peter P. Pramstaller, Irene Pichler, Markus Perola, Brenda W.J.H. Penninx, Nancy L. Pedersen, Cristian Pattaro, Alex Parker, Guillaume Paré, Ben A. Oostra, Christopher J. O’Donnell, Markku S. Nieminen, Deborah A. Nickerson, Grant W. Montgomery, Thomas Meitinger, Ruth McPherson, Mark I. McCarthy and 109 more - Nature 2010 cited by 3,704

  4. A Multivariate Genome-Wide Association Analysis of 10 LDL Subfractions, and Their Response to Statin Treatment, in 1868 Caucasians

    Authors: Heejung Shim, Daniel I. Chasman, Joshua D. Smith, Samia Mora, Paul M. Ridker, Deborah A. Nickerson, Ronald M. Krauss, Matthew Stephens - PLoS ONE 2015 cited by 613

  5. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

    Authors: Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoç, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler - Nature 2012 cited by 2,241

  6. Discovery of common and rare genetic risk variants for colorectal cancer

    Authors: Jeroen R. Huyghe, Stephanie A. Bien, Tabitha A. Harrison, Hyun Min Kang, Sai Chen, Stephanie L. Schmit, David V. Conti, Conghui Qu, Jihyoun Jeon, Christopher K. Edlund, Peyton Greenside, Michael Wainberg, Fredrick R. Schumacher, Joshua D. Smith, David Levine, Sarah C. Nelson, Nasa Sinnott-Armstrong, Demetrius Albanes, M. Henar Alonso, Kristin E. Anderson, Coral Arnau‐Collell, Volker Arndt, Christina Bamia, Barbara L. Banbury, John A. Baron, Sonja I. Berndt, Stéphane Bezieau, D. Timothy Bishop, Juergen Boehm, Heiner Boeing, Hermann Brenner, Stefanie Brezina, Stephan Buch, Daniel D. Buchanan, Andrea N. Burnett‐Hartman, Katja Butterbach, Bette J. Caan, Peter T. Campbell, Christopher S. Carlson, Sergi Castellvı́-Bel, Andrew T. Chan, Jenny Chang-Claude, Stephen J. Chanock, María‐Dolores Chirlaque, Sang‐Hee Cho, Charles M. Connolly, Amanda J. Cross, Katarina Ćuk, Keith R. Curtis, Albert de la Chapelle, Kimberly F. Doheny, David Duggan, Douglas F. Easton, Sjoerd G. Elias, Faye Elliott, Dallas R. English, Edith J. M. Feskens, Jane C. Figueiredo, Rocky Fischer, Liesel M. FitzGerald, David Forman, Manish Gala, Steven Gallinger, W. James Gauderman, Graham G. Giles, Elizabeth M. Gillanders, Jian Gong, Phyllis J. Goodman, William M. Grady, John Grove, Andrea Gsur, Marc J. Gunter, Robert W. Haile, Jochen Hampe, Heather Hampel, Sophia Harlid, Richard B. Hayes, Philipp Hofer, Michael Hoffmeister, John L. Hopper, Wan‐Ling Hsu, Wen‐Yi Huang, Thomas J. Hudson, David J. Hunter, Gemma Ibáñez‐Sanz, Gregory Idos, Roxann Ingersoll, Rebecca D. Jackson, Eric J. Jacobs, Mark A. Jenkins, Amit D. Joshi, Corinne E. Joshu, Temitope O. Keku, Timothy J. Key, Hyeong Rok Kim, Emiko Kobayashi, Laurence N. Kolonel, Charles Kooperberg, Tilman Kühn, Sébastien Küry and 99 more - Nature Genetics 2018 cited by 605

  7. The genetic architecture of type 2 diabetes

    Authors: Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, Nigel W. Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernández Tajes, Heather M. Highland, Josée Dupuis, Peter S. Chines, Cecilia M. Lindgren, Christopher Hartl, Anne Jackson, Han Chen, Jeroen R. Huyghe, Martijn van de Bunt, Richard D. Pearson, Ashish Kumar, Martina Müller‐Nurasyid, Niels Grarup, Heather M. Stringham, Eric R. Gamazon, Jaehoon Lee, Yuhui Chen, Robert A. Scott, Jennifer E. Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L. Stitzel, Dorota Pasko, Stephen C.J. Parker, Tibor V. Varga, Todd Green, Nicola L. Beer, Aaron Day-Williams, Teresa Ferreira, Tasha E. Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, M. Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min‐Seok Kwon, Juyoung Lee, Selyeong Lee, Keng‐Han Lin, Taylor J. Maxwell, Yoshihiko Nagai, Xu Wang, Ryan Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F. Voight, Bok‐Ghee Han, Christopher P. Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa K. Manning, Maggie C. Y. Ng, Nicholette D. Palmer, Beverley Balkau, Alena Stančáková, Hanna E. Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D. Smith, Benjamin M. Neale, Shaun Purcell, Adam S. Butterworth, Joanna M. M. Howson, Heung Man Lee, Yingchang Lu, Soo‐Heon Kwak, Wei Zhao, John Danesh, Vincent K. Lam, Kyong Soo Park, Danish Saleheen and 201 more - Nature 2016 cited by 1,128

  8. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Authors: Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita E. Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure - Nature Genetics 2010 cited by 1,355

  9. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Authors: 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 cited by 688

  10. Plasmonic Anticounterfeit Tags with High Encoding Capacity Rapidly Authenticated with Deep Machine Learning

    Authors: Joshua D. Smith, Md Alimoor Reza, Nathanael L. Smith, Jianxin Gu, Maha Ibrar, David Crandall, Sara E. Skrabalak - ACS Nano 2021 cited by 97

  11. Prognostic Value of Tumor-Infiltrating Lymphocytes in Head and Neck Squamous Cell Carcinoma

    Authors: Matthew E. Spector, Emily L. Bellile, Lahin Amlani, Katie R. Zarins, Joshua D. Smith, J. Chad Brenner, Laura S. Rozek, Ariane Nguyen, Daffyd Thomas, Jonathan B. McHugh, Jeremy M. G. Taylor, Gregory T. Wolf - JAMA Otolaryngology–Head & Neck Surgery 2019 cited by 184

  12. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

    Authors: Eric Venner, Donna M. Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger Metcalf, Chris Kachulis, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven M. Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah A. Nickerson, Alicia Y. Zhou, Kimberly F. Doheny, Bradley A. Ozenberger, Scott Topper, Niall J. Lennon - Genome Medicine 2022 cited by 63

  13. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Authors: Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2014 cited by 218

  14. Human de novo mutation rates from a four-generation pedigree reference

    Authors: David Porubskỳ, Harriet Dashnow, Thomas A. Sasani, Glennis A. Logsdon, Pille Hallast, Michelle D. Noyes, Zev Kronenberg, Tom Mokveld, Nidhi Koundinya, C. Nolan, Cody J. Steely, Andrea Guarracino, Egor Dolzhenko, William T. Harvey, William J. Rowell, Kirill Grigorev, Thomas J. Nicholas, Michael E. Goldberg, Keisuke K. Oshima, Jiadong Lin, Peter Ebert, W. Scott Watkins, Tiffany Y. Leung, Vincent C. T. Hanlon, Sean McGee, Brent S. Pedersen, Hannah C. Happ, Hyeonsoo Jeong, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan, Yanni Wang, Jordan Knuth, Gage H. Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D. Smith, Shawn Levy, Christopher E. Mason, Erik Garrison, Peter M. Lansdorp, Deborah W. Neklason, Lynn B. Jorde, Aaron R. Quinlan, Michael A. Eberle, Evan E. Eichler - Nature 2025 cited by 80

  15. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

    Authors: Eric Venner, Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla, Bo Yuan, Jason H. Karnes, Kimberly Walker, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Andrew Haddad, Philip E. Empey, Qiaoyan Wang, Lee Lichtenstein, Diana Toledo, Gail P. Jarvik, Anjene Musick, Richard A. Gibbs, Brian Ahmedani, Christine D. Cole Johnson, Habib Ahsan, Hoda Anton-Culver, Eric Topol, Katie Baca-Motes, Julia Moore-Vogel, Praduman Jain, Mark Begale, Neeta Jain, David Klein, Scott Sutherland, Bruce Korf, Beth Lewis, Ali G. Gharavi, George Hripcsak, Eric Boerwinkle, Scott Joseph Hebbring, Elizabeth Burnside, Dorothy Farrar-Edwards, Amy Taylor, Liliana Lombardi Desa, Steve Thibodeau, Mine Cicek, Eric Schlueter, Beverly Wilson Holmes, Martha Daviglus, Paul Harris, Consuelo Wilkins, Dan Roden, Kim Doheny, Evan Eichler, Gail Jarvik, Gretchen Funk, Anthony Philippakis, Heidi Rehm, Stacey Gabriel, Richard Gibbs, Edgar M. Gil Rico, David Glazer, Jessica Burke, Philip Greenland, Elizabeth Shenkman, William R. Hogan, Priscilla Igho-Pemu, Elizabeth W. Karlson, Jordan Smoller, Shawn N. Murphy, Margaret Elizabeth Ross, Rainu Kaushal, Eboni Winford, Vik Kheterpal, Francisco A. Moreno, Cheryl Thomas, Mitchell Lunn, Juno Obedin-Maliver, Oscar Marroquin, Shyam Visweswaran, Steven Reis, Patrick McGovern, Gregory Talavera, George T. O’Connor, Lucila Ohno-Machado, Fornessa Randal, Andreas A. Theodorou, Eric Reiman, Mercedita Roxas-Murray, Louisa Stark, Ronnie Tepp, Alicia Zhou, Scott Topper, Rhonda Trousdale, Phil Tsao, Scott T. Weiss, Jeffrey Whittle, Stephan Zuchner, Olveen Carrasquillo, Megan Lewis, Jen Uhrig, May Okihiro and 89 more - Communications Biology 2024 cited by 52

  16. Mutations in TJP2 cause progressive cholestatic liver disease

    Authors: Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby Clark, David Parry, Clare V. Logan, Lucy J. Newbury, Binita M. Kamath, Simon C. Ling, Tassos Grammatikopoulos, Bart Wagner, John C. Magee, Ronald J. Sokol, Giorgina Mieli‐Vergani, Joshua D. Smith, Colin A. Johnson, Patricia McClean, Michael A. Simpson, Alexander S. Knisely, Laura N. Bull, Richard J. Thompson - Nature Genetics 2014 cited by 293

  17. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

    Authors: Iris Postmus, Stella Trompet, Harshal Deshmukh, Michael R. Barnes, Xiaohui Li, Helen R. Warren, Daniel I. Chasman, Kaixin Zhou, Benoît J. Arsenault, Louise A. Donnelly, Kerri L. Wiggins, Christy L. Avery, Paula J. Griffin, QiPing Feng, Kent D. Taylor, Guo Li, Daniel S. Evans, Albert V. Smith, Catherine E. de Keyser, Andrew D. Johnson, Anton J. M. de Craen, David J. Stott, Brendan M. Buckley, Ian Ford, Rudi G. J. Westendorp, P. Eline Slagboom, Naveed Sattar, Patricia B. Munroe, Peter Sever, Neil Poulter, Alice Stanton, Denis C. Shields, Eoin OʼBrien, Sue Shaw‐Hawkins, Yu Chen, Deborah A. Nickerson, Joshua D. Smith, Marie‐Pierre Dubé, S. Matthijs Boekholdt, G. Kees Hovingh, John J.P. Kastelein, Paul McKeigue, John Betteridge, Andrew Neil, Paul N. Durrington, Alex S. F. Doney, Fiona Carr, Andrew P. Morris, Mark I. McCarthy, Leif Groop, Emma Ahlqvist, Joshua C. Bis, Kenneth Rice, Nicholas L. Smith, Thomas Lumley, Eric A. Whitsel, Til Stürmer‎, Eric Boerwinkle, Julius S. Ngwa, Christopher J. O’Donnell, Ramachandran S. Vasan, Wei‐Qi Wei, Russell A. Wilke, Ching‐Ti Liu, Fangui Sun, Xiuqing Guo, Susan R. Heckbert, Wendy S. Post, Nona Sotoodehnia, Alice M. Arnold, Jeanette M. Stafford, Jingzhong Ding, David M. Herrington, Stephen B. Kritchevsky, Guðný Eiríksdóttir, Leonore J. Launer, Tamara B. Harris, Audrey Y. Chu, Franco Giulianini, Jean MacFadyen, Bryan J. Barratt, Fredrik Nyberg, Bruno H. Stricker, André G. Uitterlinden, Albert Hofman, Fernando Rivadeneira, Valur Emilsson, Oscar H. Franco, Paul M. Ridker, Vilmundur Guðnason, Ching‐Ti Liu, Joshua C. Denny, Christie M. Ballantyne, Jerome I. Rotter, L. Adrienne Cupples, Bruce M. Psaty, Colin N. A. Palmer, Jean‐Claude Tardif, Helen M. Colhoun, G. A. Hitman and 64 more - Nature Communications 2014 cited by 279

  18. Assessment of Artificial Intelligence Performance on the Otolaryngology Residency In‐Service Exam

    Authors: Arushi Mahajan, Christina L. Shabet, Joshua D. Smith, Shannon F. Rudy, Robbi A. Kupfer, Lauren A. Bohm - OTO Open 2023 cited by 18

  19. A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree

    Authors: David Porubskỳ, Harriet Dashnow, Thomas A. Sasani, Glennis A. Logsdon, Pille Hallast, Michelle D. Noyes, Zev Kronenberg, Tom Mokveld, Nidhi Koundinya, C. Nolan, Cody J. Steely, Andrea Guarracino, Egor Dolzhenko, William T. Harvey, William J. Rowell, Kirill Grigorev, Thomas J. Nicholas, Keisuke K. Oshima, Jiadong Lin, Peter Ebert, W. Scott Watkins, Tiffany Y. Leung, Vincent C. T. Hanlon, Sean McGee, Brent S. Pedersen, Michael E. Goldberg, Hannah C. Happ, Hyeonsoo Jeong, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan, Yanni Wang, Jordan Knuth, Gage H. Garcia, Cairbre Fanslow, Christine Lambert, Charles Lee, Joshua D. Smith, Shawn Levy, Christopher E. Mason, Erik Garrison, Peter M. Lansdorp, Deborah W. Neklason, Lynn B. Jorde, Aaron R. Quinlan, Michael A. Eberle, Evan E. Eichler - 2024 cited by 22

  20. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

    Authors: Tychele N. Turner, Fereydoun Hormozdiari, Michael Duyzend, Sarah A. McClymont, Paul W. Hook, Ivan Iossifov, Archana N. Raja, Carl Baker, Kendra Hoekzema, Holly A.F. Stessman, Michael C. Zody, Bradley J. Nelson, John Huddleston, Richard Sandstrom, Joshua D. Smith, D. Hanna, James M. Swanson, Elaine M. Faustman, Michael J. Bamshad, J Stamatoyannopoulos, Deborah A. Nickerson, Andrew S. McCallion, Robert B. Darnell, Evan E. Eichler - The American Journal of Human Genetics 2015 cited by 291

  21. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

    Authors: Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski - The American Journal of Human Genetics 2016 cited by 192

  22. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis

    Authors: Andrea Gaedigk, Erin C. Boone, Steven E. Scherer, Seung‐been Lee, Ibrahim Numanagić, S. Cenk Şahinalp, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Xiang Qin, Wendy Y. Wang, Emily Farrow, Nina Gonzaludo, Aaron L. Halpern, Deborah A. Nickerson, Neil Miller, Victoria M. Pratt, Lisa V. Kalman - Journal of Molecular Diagnostics 2022 cited by 46

  23. Head and neck paragangliomas: A two‐decade institutional experience and algorithm for management

    Authors: Joshua D. Smith, Rachel N. Harvey, Owen A. Darr, Mark E. Prince, Carol R. Bradford, Gregory T. Wolf, Tobias Else, Gregory J. Basura - Laryngoscope Investigative Otolaryngology 2017 cited by 99

  24. Mutation of ATF6 causes autosomal recessive achromatopsia

    Authors: Muhammad Ansar, Regie Lyn P. Santos‐Cortez, Muhammad Arif Nadeem Saqib, Fareeha Zulfiqar, Kwanghyuk Lee, Naeem Mahmood Ashraf, Ehsan Ullah, Xin Wang, Sundus Sajid, Falak Sher Khan, Muhammad Aminuddin, Joshua D. Smith, Jay Shendure, Michael J. Bamshad, Deborah A. Nickerson, Abdul Hameed, Saima Riazuddin, Zubair M. Ahmed, Wasim Ahmad, Suzanne M. Leal - Human Genetics 2015 cited by 84