litlas
Log inCreate account

Brian J. O’Roak

Active 2005–2023

Also published as
Brian J. O'Roak
50
Papers
28,359
Citations
44
h-index
49
i10-index

Citations

Citations per year for Brian J. O’Roak1989: 2 citations1998: 1 citations2001: 1 citations2003: 1 citations2005: 2 citations2006: 29 citations2007: 44 citations2008: 65 citations2009: 95 citations2010: 99 citations2011: 131 citations2012: 290 citations2013: 376 citations2014: 525 citations2015: 713 citations2016: 596 citations2017: 609 citations2018: 531 citations2019: 1,352 citations2020: 1,161 citations2021: 1,089 citations2022: 862 citations2023: 553 citations2024: 856 citations2025: 323 citations2026: 16 citations1990–1997: no citations, so these years are not shown1999–2000: no citations, so these years are not shown2002: no citations, so this year is not shown2004: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 4,551 citing papers, 25.3% of this breakdownUnited Kingdom: 1,420 citing papers, 7.9% of this breakdownGermany: 1,007 citing papers, 5.6% of this breakdownChina: 944 citing papers, 5.3% of this breakdownCanada: 853 citing papers, 4.7% of this breakdownFrance: 815 citing papers, 4.5% of this breakdownNetherlands: 784 citing papers, 4.4% of this breakdownItaly: 731 citing papers, 4.1% of this breakdownAustralia: 628 citing papers, 3.5% of this breakdownSpain: 440 citing papers, 2.4% of this breakdownJapan: 384 citing papers, 2.1% of this breakdownSweden: 356 citing papers, 2% of this breakdown
0%25.3%Other 28.2%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology59.4%
  • Medicine17.1%
  • Neuroscience16.8%
  • Immunology and Microbiology2.3%
  • Psychology2.2%
  • Agricultural and Biological Sciences0.6%
  • Other1.6%

Topics

  • Genetics and Neurodevelopmental Disorders7.8%
  • Genomics and Rare Diseases7.6%
  • Autism Spectrum Disorder Research5.9%
  • Genomic variations and chromosomal abnormalities5.1%
  • Genetic Associations and Epidemiology3.3%
  • Congenital heart defects research2.4%
  • Other67.9%

Coauthors

All papers

Open in search
  1. A general framework for estimating the relative pathogenicity of human genetic variants

    Authors: Martin Kircher, Daniela Witten, Preti Jain, Brian J. O’Roak, Gregory M. Cooper, Jay Shendure - Nature Genetics 2014 cited by 6,554

  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. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

    Authors: Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya, Jacob B. Hall, Joseph Obiajulu, Jessica Wright, Shwetha C. Murali, Simon Xu, Leo Brueggeman, Taylor Thomas, Olena Marchenko, Christopher Fleisch, Sarah D. Barns, LeeAnne Green Snyder, Bing Han, Timothy S. Chang, Tychele N. Turner, William T. Harvey, Andrew Nishida, Brian J. O’Roak, Daniel H. Geschwind, Adrienne Adams, Alpha Amatya, Alicia Andrus, Asif Bashar, Anna Berman, Alison Brown, Alexies Camba, Amanda C. Gulsrud, Anthony D. Krentz, Amanda D. Shocklee, Amy Esler, Alex Lash, Anne Fanta, Ali Fatemi, Angela Fish, Alexandra Goler, Antonio González, Anibal Gutierrez, Antonio Y. Hardan, Amy Hess, Anna Hirshman, Alison Holbrook, Andrea J. Ace, Anthony J. Griswold, Angela Gruber, A Jarratt, Anna Jelinek, Alissa Jorgenson, Aline Juárez, Annes Kim, Alex Kitaygorodsky, Addie Luo, Angela L. Rachubinski, Allison Wainer, Amy M. Daniels, Anup Mankar, Andrew L. Mason, Alexandra Miceli, Anna Milliken, Amy Morales-Lara, Alexandra N. Stephens, Ai Nhu Nguyen, Amy Nicholson, Anna Marie Paolicelli, Alexander P. McKenzie, Abha R. Gupta, A Raven, Anna Rhea, Andrea Simon, Aubrie Soucy, Amy Swanson, Anthony Sziklay, Amber Tallbull, Angela Tesng, Audrey W. M. Ward, Allyson Zick, Brittani A. Hilscher, Brandi Bell, Barbara Enright, B. E. Robertson, Brenda Hauf, Bill Jensen, Brandon Lobisi, Brianna M. Vernoia, Brady Schwind, Bonnie VanMetre, Craig A. Erickson, Catherine Sullivan, Charles F. Albright, Claudine Anglo, Cate Buescher, Catherine C. Bradley, Claudia Campo-Soria, Cheryl Cohen, Costanza Colombi, Chris Diggins, Catherine Edmonson and 322 more - Nature Genetics 2022 cited by 461

  4. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

    Authors: Pamela Feliciano, Amy M. Daniels, LeeAnne Green Snyder, Amy L. Beaumont, Alexies Camba, Amy Esler, Amanda G. Gulsrud, Andrew Z. Mason, Anibal Gutierrez, Amy Nicholson, Anna Marie Paolicelli, Alexander P. McKenzie, Angela L. Rachubinski, Alexandra N. Stephens, Andrea R. Simon, Amy Stedman, Amanda D. Shocklee, Amy Swanson, Brenda Finucane, Brittani A. Hilscher, Brenda Hauf, Brian J. O’Roak, Brooke G. McKenna, B. E. Robertson, Bárbara Rodríguez, Brianna M. Vernoia, Bonnie Van Metre, Catherine C. Bradley, Cheryl Cohen, Craig A. Erickson, Christina Harkins, Caitlin Hayes, Catherine Lord, Christa Lese Martin, Crissy Ortiz, Cesar Ochoa‐Lubinoff, Christine Peura, Catherine E. Rice, Cordelia Robinson Rosenberg, Christopher J. Smith, Carrie A. Thomas, Cora Taylor, L. Casey White, Corrie H. Walston, David G. Amaral, Daniel L. Coury, Dustin E. Sarver, Dalia Istephanous, Deana Li, Dzung Cong Nugyen, Emily A. Fox, Eric Butter, Elizabeth Berry‐Kravis, Eric Courchesne, Éric Fombonne, Eugenia Hofammann, Elena Lamarche, Ericka L. Wodka, Emily T. Matthews, Eirene O’Connor, Emily Palen, Fiona K. Miller, Gabriel S. Dichter, Gabriela Marzano, Gail Stein, Hanna Hutter, Hannah E. Kaplan, Hai Li, Holly Lechniak, Hoa Lam Schneider, Hana Zaydens, Ivette Arriaga, Jennifer Gerdts, Joseph F. Cubells, Jeanette M Cordova, Jaclyn Gunderson, Joseph Lillard, Julie Manoharan, James T. McCracken, Jacob J. Michaelson, Jason Neely, Jéssica Orobio, Juhi Pandey, Joseph Piven, Jessica Scherr, James S. Sutcliffe, Jennifer Tjernagel, Jermel Wallace, Kristen Callahan, Katherine Ann Dent, Kathryn A. Schweers, Kira E. Hamer, Kiely Law, Kathryn Lowe, Kaela O’Brien, Kaitlin Smith, Katherine G. Pawlowski, Karen Pierce, Katherine Roeder, Leonard Abbeduto and 110 more - Neuron 2018 cited by 492

  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. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Authors: Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler - Cell 2014 cited by 837

  7. Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

    Authors: Brian J. O’Roak, Laura Vives, Wenqing Fu, Jarrett D. Egertson, Ian B. Stanaway, Ian G. Phelps, Gemma L. Carvill, Akash Kumar, Choli Lee, Katy Ankenman, Jeff Munson, Joseph B. Hiatt, Emily H. Turner, Roie Levy, Diana R. O’Day, Niklas Krumm, Bradley P. Coe, Beth Martin, Elhanan Borenstein, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Joshua M. Akey, Raphael Bernier, Evan E. Eichler, Jay Shendure - Science 2012 cited by 1,300

  8. Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Authors: Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Elizabeth Thompson, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler - Nature Genetics 2014 cited by 758

  9. Highly scalable generation of DNA methylation profiles in single cells

    Authors: Ryan M. Mulqueen, Dmitry Pokholok, Steven Norberg, Kristof Törkenczy, Andrew J. Fields, Duanchen Sun, John R. Sinnamon, Jay Shendure, Cole Trapnell, Brian J. O’Roak, Zheng Xia, Frank J. Steemers, Andrew C. Adey - Nature Biotechnology 2018 cited by 330

  10. Recent ultra-rare inherited variants implicate new autism candidate risk genes

    Authors: Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael Bernier, Xueya Zhou, Pamela Feliciano, Jacob B. Hall, Irina Astrovskaya, Simon Xu, Chang Shu, Joseph Obiajulu, Leo Brueggeman, Jessica Wright, Olena Marchenko, Chris Fleisch, Timothy S. Chang, LeeAnne Green Snyder, Sarah D. Barns, Bing Han, William T. Harvey, Andrew Nishida, Ryan N. Doan, Aubrey Soucy, Brian J. O’Roak, Timothy W. Yu, Daniel H. Geschwind, Jacob J. Michaelson, Natalia Volfovsky, Yufeng Shen, Wendy K. Chung, Michael C. Zody, Evan E. Eichler - Nature Genetics 2021 cited by 143

  11. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Authors: Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford - Nature Genetics 2013 cited by 694

  12. Copy number variation detection and genotyping from exome sequence data

    Authors: Niklas Krumm, Peter H. Sudmant, Arthur Ko, Brian J. O’Roak, Maika Malig, Bradley P. Coe, NHLBI Exome Sequencing Project, Aaron R. Quinlan, Deborah A. Nickerson, Evan E. Eichler - Genome Research 2012 cited by 676

  13. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Authors: Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State - Neuron 2011 cited by 1,292

  14. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Authors: Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns - Nature Genetics 2012 cited by 753

  15. A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

    Authors: Taylor L. Mighell, Sara Evans-Dutson, Brian J. O’Roak - The American Journal of Human Genetics 2018 cited by 237

  16. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

    Authors: Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoç, Alexandra P MacKenzie, Sarah Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler - Nature Genetics 2011 cited by 1,217

  17. High-content single-cell combinatorial indexing

    Authors: Ryan M. Mulqueen, Dmitry Pokholok, Brendan L. O’Connell, Casey Thornton, Fan Zhang, Brian J. O’Roak, Jason M. Link, Galip Gürkan Yardımcı, Rosalie C. Sears, Frank J. Steemers, Andrew Adey - Nature Biotechnology 2021 cited by 109

  18. Recurrent de novo mutations implicate novel genes underlying simplex autism risk

    Authors: Brian J. O’Roak, Holly A.F. Stessman, Evan A. Boyle, Kali Witherspoon, Beth Martin, C. Lee, Laura Vives, Carl Baker, Joseph B. Hiatt, D. A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler - Nature Communications 2014 cited by 348

  19. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

    Authors: Tianyun Wang, Chang N. Kim, Trygve E. Bakken, Madelyn A. Gillentine, Barbara Henning, Yafei Mao, Christian Gilissen, Tomasz J. Nowakowski, Evan E. Eichler, John Acampado, Andrea J. Ace, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex Lash, Richard P. Marini, Vincent J. Myers, Eirene O'Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor Thomas, Leo Brueggeman, Tanner Koomar, Jacob J. Michaelson, Brian J. O’Roak, Rebecca Barnard, Richard A. Gibbs, Donna M. Muzny, Aniko Sabo, Kelli L. Baalman Ahmed, Evan E. Eichler, Matthew Siegel, Leonard Abbeduto, David G. Amaral, Brittani A. Hilscher, Deana Li, Kaitlin N. Smith, Samantha Thompson, Charles F. Albright, Eric Butter, Sara Eldred, Nathan Hanna, Mark Jones, Daniel L. Coury, Jessica Scherr, Taylor Pifher, Erin Roby, Brandy Dennis, Lorrin Higgins, Melissa A. Brown, Michael Alessandri, Anibal Gutierrez, Melissa N. Hale, Lynette M. Herbert, Hoa Lam Schneider, Giancarla David, Robert D. Annett, Dustin E. Sarver, Ivette Arriaga, Alexies Camba, Amanda C. Gulsrud, Monica Haley, James T. McCracken, Sophia Sandhu, Maira Tafolla, Wha S. Yang, Laura A. Carpenter, Catherine C. Bradley, Frampton Gwynette, Patricia Manning, Rebecca C. Shaffer, Carrie Thomas, Raphael Bernier, Emily A. Fox, Jennifer Gerdts, Micah Pepper and 73 more - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 cited by 72

  20. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    Authors: Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns - Brain 2015 cited by 365

  21. Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort

    Authors: Éric Fombonne, Leigh A. Coppola, Sarah Mastel, Brian J. O’Roak - Journal of Autism and Developmental Disorders 2021 cited by 106

  22. GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    Authors: Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle, Brian J. O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G. Sadleir, Samantha J. Turner, Meng‐Han Tsai, Richard Webster, Robert Ouvrier, John A. Damiano, Samuel F. Berkovic, Jay Shendure, Michael S. Hildebrand, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford - Nature Genetics 2013 cited by 374

  23. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    Authors: Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O’Roak, Dana Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden, Jonathan Adkins, E A Boyle, Nathan Lacy, Diana R. O’Day, Abdulrahman Alswaid, Radha Ramadevi A, Lokesh Lingappa, Charles Marques Lourenço, Loreto Martorell, Ángeles García‐Cazorla, Hamìt Özyürek, Göknur Haliloğlu, Beyhan Tüysüz, Meral Topçu, P. F. Chance, Melissa A. Parisi, Ian A. Glass, Jay Shendure, Dan Doherty - Journal of Medical Genetics 2015 cited by 297

  24. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

    Authors: Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd, Sara Evans-Dutson, Ryan M. Mulqueen, Raphael Bernier, Jean‐Baptiste Rivière, Éric Fombonne, Brian J. O’Roak - The American Journal of Human Genetics 2017 cited by 205