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
引用元
国・地域
機関
- Harvard University1%
- Inserm0.9%
- University of Washington0.8%
- Broad Institute0.7%
- Howard Hughes Medical Institute0.6%
- Baylor College of Medicine0.6%
- その他95.4%
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
- Jay Shendure19
- Evan E. Eichler13
- Raphael Bernier9
- Laura Vives8
- Bradley P. Coe6
- Deborah A. Nickerson6
- Niklas Krumm6
- Carl Baker5
- Gemma L. Carvill5
- Heather C. Mefford5
- Matthew W. State5
- Éric Fombonne5
- A. Gulhan Ercan‐Sencicek4
- Emre Karakoç4
- Irina Astrovskaya4
- Jean‐Baptiste Rivière4
- Joseph B. Hiatt4
- Murat Günel4
- Pamela Feliciano4
- Rebecca Barnard4
- Richard P. Lifton4
- Ryan M. Mulqueen4
- Abha R. Gupta3
- Alpha Amatya3
全論文
- A general framework for estimating the relative pathogenicity of human genetic variants
著者: Martin Kircher, Daniela Witten, Preti Jain, Brian J. O’Roak, Gregory M. Cooper, Jay Shendure - Nature Genetics 2014 被引用: 6,554
- The contribution of de novo coding mutations to autism spectrum disorder
著者: 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 被引用: 2,823
- Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
著者: 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 ほか 322 名 - Nature Genetics 2022 被引用: 461
- SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
著者: 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 ほか 110 名 - Neuron 2018 被引用: 492
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
著者: 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 被引用: 2,241
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
著者: 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 被引用: 837
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
著者: 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 被引用: 1,300
- Refining analyses of copy number variation identifies specific genes associated with developmental delay
著者: 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 被引用: 758
- Highly scalable generation of DNA methylation profiles in single cells
著者: 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 被引用: 330
- Recent ultra-rare inherited variants implicate new autism candidate risk genes
著者: 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 被引用: 143
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
著者: 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 被引用: 694
- Copy number variation detection and genotyping from exome sequence data
著者: 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 被引用: 676
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
著者: 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 被引用: 1,292
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
著者: 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 被引用: 753
- A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships
著者: Taylor L. Mighell, Sara Evans-Dutson, Brian J. O’Roak - The American Journal of Human Genetics 2018 被引用: 237
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
著者: 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 被引用: 1,217
- High-content single-cell combinatorial indexing
著者: 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 被引用: 109
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk
著者: 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 被引用: 348
- Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
著者: 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 ほか 73 名 - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 被引用: 72
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
著者: 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 被引用: 365
- Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort
著者: Éric Fombonne, Leigh A. Coppola, Sarah Mastel, Brian J. O’Roak - Journal of Autism and Developmental Disorders 2021 被引用: 106
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders
著者: 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 被引用: 374
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
著者: 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 被引用: 297
- Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
著者: 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 被引用: 205
