Brian J. O’Roak

2005–2023 年に発表

別表記
Brian J. O'Roak
50
論文数
28,359
被引用数
44
h 指数
49
i10 指数

被引用数

Brian J. O’Roak の年別被引用数1989 年: 被引用 2 件1998 年: 被引用 1 件2001 年: 被引用 1 件2003 年: 被引用 1 件2005 年: 被引用 2 件2006 年: 被引用 29 件2007 年: 被引用 44 件2008 年: 被引用 65 件2009 年: 被引用 95 件2010 年: 被引用 99 件2011 年: 被引用 131 件2012 年: 被引用 290 件2013 年: 被引用 376 件2014 年: 被引用 525 件2015 年: 被引用 713 件2016 年: 被引用 596 件2017 年: 被引用 609 件2018 年: 被引用 531 件2019 年: 被引用 1,352 件2020 年: 被引用 1,161 件2021 年: 被引用 1,089 件2022 年: 被引用 862 件2023 年: 被引用 553 件2024 年: 被引用 856 件2025 年: 被引用 323 件2026 年: 被引用 16 件1990〜1997 年は被引用が無いため表示していません1999〜2000 年は被引用が無いため表示していません2002 年は被引用が無いため表示していません2004 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 4,551 件、この内訳の 25.3%イギリス: 引用元論文 1,420 件、この内訳の 7.9%ドイツ: 引用元論文 1,007 件、この内訳の 5.6%中国: 引用元論文 944 件、この内訳の 5.3%カナダ: 引用元論文 853 件、この内訳の 4.7%フランス: 引用元論文 815 件、この内訳の 4.5%オランダ: 引用元論文 784 件、この内訳の 4.4%イタリア: 引用元論文 731 件、この内訳の 4.1%オーストラリア: 引用元論文 628 件、この内訳の 3.5%スペイン: 引用元論文 440 件、この内訳の 2.4%日本: 引用元論文 384 件、この内訳の 2.1%スウェーデン: 引用元論文 356 件、この内訳の 2%
0%25.3%その他 28.2%

分野

  • Biochemistry, Genetics and Molecular Biology59.4%
  • Medicine17.1%
  • Neuroscience16.8%
  • Immunology and Microbiology2.3%
  • Psychology2.2%
  • Agricultural and Biological Sciences0.6%
  • その他1.6%

トピック

  • 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%
  • その他67.9%

共著者

全論文

検索で開く
  1. A general framework for estimating the relative pathogenicity of human genetic variants

    著者: , , , , , - Nature Genetics 2014 被引用: 6,554

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 2,823

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 322 名 - Nature Genetics 2022 被引用: 461

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 110 名 - Neuron 2018 被引用: 492

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

    著者: , , , , , , , , , , , , , , , , , , , , , , - Nature 2012 被引用: 2,241

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler - Cell 2014 被引用: 837

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , - Science 2012 被引用: 1,300

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 758

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

    著者: , , , , , , , , , , , , - Nature Biotechnology 2018 被引用: 330

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 143

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford - Nature Genetics 2013 被引用: 694

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

    著者: , , , , , , , , , - Genome Research 2012 被引用: 676

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 1,292

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 753

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

    著者: , , - The American Journal of Human Genetics 2018 被引用: 237

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

    著者: , , , , , , , , , , , , , , , - Nature Genetics 2011 被引用: 1,217

  17. High-content single-cell combinatorial indexing

    著者: , , , , , , , , , , - Nature Biotechnology 2021 被引用: 109

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

    著者: , , , , , , , , , , , , - Nature Communications 2014 被引用: 348

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 ほか 73 名 - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 被引用: 72

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

    著者: , , , , , , , , , , , , , , , - Brain 2015 被引用: 365

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

    著者: , , , - Journal of Autism and Developmental Disorders 2021 被引用: 106

  22. GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    著者: , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2013 被引用: 374

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , - Journal of Medical Genetics 2015 被引用: 297

  24. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

    著者: , , , , , , , , - The American Journal of Human Genetics 2017 被引用: 205