Ryan L Collins

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 19

Top Venues

Nature genetics

Nature

bioRxiv : the preprint server for biology

Bioinformatics (Oxford, England)

Massachusetts General Hospital

Harvard Medical School (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Massachusetts General Hospital Aug 19 2013

United States

Bioinformatics Specialist II :: Center for Human Genomic Research

Dartmouth-Hitchcock Medical Center

United States

Research Assistant :: Institute for Quantitative Biomedical Sciences

Dartmouth College

United States

Undergraduate Teaching Assistant :: Biological Sciences

Dartmouth-Hitchcock Medical Center

United States

Research Assistant :: Orthopedic Medicine

Dartmouth College

United States

Research Assistant :: Biological Sciences

Education History

Harvard Medical School

United States

PHD :: Bioinformatics and Integrative Genomics

Publications

Riaz Gillani, Ryan L Collins, Jett Crowdis, Amanda Garza, Jill K Jones, Mark Walker, Alba Sanchis-Juan, Chris Whelan, Emma Pierce-Hoffman, Michael Talkowski, Harrison Brand, Kevin M Haigis, Jaclyn LoPiccolo, Saud H AlDubayan, Alexander Gusev, Brian D Crompton, Katie A Janeway, Eliezer Van Allen
Rare germline structural variants increase risk for pediatric solid tumors. bioRxiv : the preprint server for biology (2024)
Riaz Gillani, Ryan L Collins, Jett Crowdis, Amanda Garza, Jill K Jones, Mark Walker, Alba Sanchis-Juan, Chris Whelan, Emma Pierce-Hoffman, Michael Talkowski, Harrison Brand, Kevin M Haigis, Jaclyn LoPiccolo, Saud H AlDubayan, Alexander Gusev, Brian D Crompton, Katie A Janeway, Eliezer Van Allen
Rare germline structural variants increase risk for pediatric solid tumors. bioRxiv : the preprint server for biology (2024)
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier, Mark A Walker, David I Benjamin, Xuefang Zhao, Konrad J Karczewski, Isaac Wong, Ryan L Collins, Alba Sanchis-Juan, Harrison Brand, Eric Banks, Michael E Talkowski
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. Nature genetics (2024)
Riaz Gillani, Ryan L Collins, Jett Crowdis, Amanda Garza, Jill K Jones, Mark Walker, Alba Sanchis-Juan, Chris Whelan, Emma Pierce-Hoffman, Michael Talkowski, Harrison Brand, Kevin M Haigis, Jaclyn LoPiccolo, Saud H AlDubayan, Alexander Gusev, Brian D Crompton, Katie A Janeway, Eliezer Van Allen
Rare germline structural variants increase risk for pediatric solid tumors. bioRxiv : the preprint server for biology (2024)
Ludovica Montanucci, David Lewis-Smith, Ryan L Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys Huw Thomas, Michael Talkowski, null null, Ingo Helbig, Costin Leu, Dennis Lal
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature communications 14 (1) (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier, Mark A Walker, David I Benjamin, Xuefang Zhao, Konrad J Karczewski, Isaac Wong, Ryan L Collins, Alba Sanchis-Juan, Harrison Brand, Eric Banks, Michael E Talkowski
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. Nature genetics (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Joseph Nasser, Drew T Bergman, Charles P Fulco, Philine Guckelberger, Benjamin R Doughty, Tejal A Patwardhan, Thouis R Jones, Tung H Nguyen, Jacob C Ulirsch, Fritz Lekschas, Kristy Mualim, Heini M Natri, Elle M Weeks, Glen Munson, Michael Kane, Helen Y Kang, Ang Cui, John P Ray, Thomas M Eisenhaure, Ryan L Collins, Kushal Dey, Hanspeter Pfister, Alkes L Price, Charles B Epstein, Anshul Kundaje, Ramnik J Xavier, Mark J Daly, Hailiang Huang, Hilary K Finucane, Nir Hacohen, Eric S Lander, Jesse M Engreitz
Genome-wide enhancer maps link risk variants to disease genes. Nature 593 (7858) (2021)
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alfoldi, Qingbo S Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M England, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James Simon Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, null null, Benjamin M Neale, Mark J Daly, Daniel G MacArthur
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581 (7809) (2020)
Katelynn A Toomer, Mengyao Yu, Diana B Fulmer, Lilong Guo, Kelsey S Moore, Reece Moore, Ka'la D Drayton, Janiece Glover, Neal Peterson, Sandra Ramos-Ortiz, Alex Drohan, Breiona J Catching, Rebecca A Stairley, Andy Wessels, Joshua H Lipschutz, Francesca N Delling, Xavier Jeunemaitre, Christian Dina, Ryan L Collins, Harrison Brand, Michael E Talkowski, Federica Del Monte, Rupak Mukherjee, Alexander Awgulewitsch, Simon Body, Gary Hardiman, Edward S Hazard, Willian A da Silveira, Baolin Wang, Maire Leyne, Ronen Durst, Roger R Markwald, Solena Le Scouarnec, Albert Hagege, Thierry Le Tourneau, Peter Kohl, Eva A Rog-Zielinska, Patrick T Ellinor, Robert A Levine, David J Milan, Jean-Jacques Schott, Nabila Bouatia-Naji, Susan A Slaugenhaupt, Russell A Norris
Primary cilia defects causing mitral valve prolapse. Science translational medicine 11 (493) (2020)
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alfoldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang, Nicholas A Watts, Matthew Solomonson, Anne H O'Donnell-Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R Stone, Camillo Toro, Jack Fu, Grace Tiao, Kristen M Laricchia, Valentin Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, null null, null null, Kent D Taylor, Henry J Lin, Stephen S Rich, Wendy S Post, Yii-Der Ida Chen, Jerome I Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M Neale, Sekar Kathiresan, Mark J Daly, Eric Banks, Daniel G MacArthur, Michael E Talkowski
A structural variation reference for medical and population genetics. Nature 581 (7809) (2020)
Lide Han, Xuefang Zhao, Mary Lauren Benton, Thaneer Perumal, Ryan L Collins, Gabriel E Hoffman, Jessica S Johnson, Laura Sloofman, Harold Z Wang, Matthew R Stone, null null, Kristen J Brennand, Harrison Brand, Solveig K Sieberts, Stefano Marenco, Mette A Peters, Barbara K Lipska, Panagiotis Roussos, Anthony Capra, Michael E Talkowski, Douglas M Ruderfer
Functional annotation of rare structural variation in the human brain. Nature communications 11 (1) (2020)
Joon-Yong An, Kevin Lin, Lingxue Zhu, Donna M Werling, Shan Dong, Harrison Brand, Harold Z Wang, Xuefang Zhao, Grace B Schwartz, Ryan L Collins, Benjamin B Currall, Claudia Dastmalchi, Jeanselle Dea, Clif Duhn, Michael C Gilson, Lambertus Klei, Lindsay Liang, Eirene Markenscoff-Papadimitriou, Sirisha Pochareddy, Nadav Ahituv, Joseph D Buxbaum, Hilary Coon, Mark J Daly, Young Shin Kim, Gabor T Marth, Benjamin M Neale, Aaron R Quinlan, John L Rubenstein, Nenad Sestan, Matthew W State, A Jeremy Willsey, Michael E Talkowski, Bernie Devlin, Kathryn Roeder, Stephan J Sanders
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.) 362 (6420) (2019)
Donna M Werling, Harrison Brand, Joon-Yong An, Matthew R Stone, Lingxue Zhu, Joseph T Glessner, Ryan L Collins, Shan Dong, Ryan M Layer, Eirene Markenscoff-Papadimitriou, Andrew Farrell, Grace B Schwartz, Harold Z Wang, Benjamin B Currall, Xuefang Zhao, Jeanselle Dea, Clif Duhn, Carolyn A Erdman, Michael C Gilson, Rachita Yadav, Robert E Handsaker, Seva Kashin, Lambertus Klei, Jeffrey D Mandell, Tomasz J Nowakowski, Yuwen Liu, Sirisha Pochareddy, Louw Smith, Michael F Walker, Matthew J Waterman, Xin He, Arnold R Kriegstein, John L Rubenstein, Nenad Sestan, Steven A McCarroll, Benjamin M Neale, Hilary Coon, A Jeremy Willsey, Joseph D Buxbaum, Mark J Daly, Matthew W State, Aaron R Quinlan, Gabor T Marth, Kathryn Roeder, Bernie Devlin, Michael E Talkowski, Stephan J Sanders
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nature genetics 50 (5) (2018)
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature genetics 49 (2) (2017)
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott, Omar A Abdul-Rahman, Erika Aberg, Rhett Adley, Sofia L Alcaraz-Estrada, Fowzan Sami Alkuraya, Yu An, Mary-Anne Anderson, Caroline Antolik, Kwame Anyane-Yeboa, Joan F Atkin, Tina Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M H F Bongers, Eva H Brilstra, Chester W Brown, Hennie T Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin B Currall, Tom Cushing, Dezso David, Matthew A Deardorff, Annelies Dheedene, Marc D'Hooghe, Bert B A de Vries, Dawn L Earl, Heather L Ferguson, Heather Fisher, David R FitzPatrick, Pamela Gerrol, Daniela Giachino, Joseph T Glessner, Troy Gliem, Margo Grady, Brett H Graham, Cristin Griffis, Karen W Gripp, Andrea L Gropman, Andrea Hanson-Kahn, David J Harris, Mark A Hayden, Rosamund Hill, Ron Hochstenbach, Jodi D Hoffman, Robert J Hopkin, Monika W Hubshman, A Micheil Innes, Mira Irons, Melita Irving, Jessie C Jacobsen, Sandra Janssens, Tamison Jewett, John P Johnson, Marjolijn C Jongmans, Stephen G Kahler, David A Koolen, Jerome Korzelius, Peter M Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen Leppig, Alex V Levin, Haibo Li, Hong Li, Eric C Liao, Cynthia Lim, Edward J Lose, Diane Lucente, Michael J Macera, Poornima Manavalan, Giorgia Mandrile, Carlo L Marcelis, Lauren Margolin, Tamara Mason, Diane Masser-Frye, Michael W McClellan, Cinthya J Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya R Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan E Mortenson, Graciela Moya, Aggie W Nieuwint, Zehra Ordulu, Sandhya Parkash, Susan P Pauker, Shahrin Pereira, Danielle Perrin, Katy Phelan, Raul E Piña Aguilar, Pino J Poddighe, Giulia Pregno, Salmo Raskin, Linda Reis, William Rhead, Debra Rita, Ivo Renkens, Filip Roelens, Jayla Ruliera, Patrick Rump, Samantha L P Schilit, Ranad Shaheen, Rebecca Sparkes, Erica Spiegel, Blair Stevens, Matthew R Stone, Julia Tagoe, Joseph V Thakuria, Bregje W van Bon, Jiddeke van de Kamp, Ineke van Der Burgt, Ton van Essen, Conny M van Ravenswaaij-Arts, Markus J van Roosmalen, Sarah Vergult, Catharina M L Volker-Touw, Dorothy P Warburton, Matthew J Waterman, Susan Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, Brynn Levy, Han G Brunner, Nicole de Leeuw, Wigard P Kloosterman, Erik C Thorland, Cynthia C Morton, James F Gusella, Michael E Talkowski
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature genetics 49 (1) (2016)
Derek J C Tai, Ashok Ragavendran, Poornima Manavalan, Alexei Stortchevoi, Catarina M Seabra, Serkan Erdin, Ryan L Collins, Ian Blumenthal, Xiaoli Chen, Yiping Shen, Mustafa Sahin, Chengsheng Zhang, Charles Lee, James F Gusella, Michael E Talkowski
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nature neuroscience 19 (3) (2016)

Ryan L Collins.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Ryan L Collins