Publications

484 Results (Filters Applied)
Neuro-Oncology. 2023 May 29.

Significant increase of high-risk chromosome 1q gain and 6q loss at recurrence in posterior fossa group A ependymoma: a multicenter study.

Andrew M Donson, Kelsey C Bertrand, Kent A Riemondy, Dexiang Gao, Yonghua Zhuang, Bridget Sanford, Gregory A Norris, Rebecca J Chapman, Rui Fu, Nicholas Willard, Andrea M Griesinger, Graziella Ribeiro de Sousa, Vladimir Amani, Enrique Grimaldo, Todd C Hankinson, Ffyona Booker, Martin Sill, Richard G Grundy, Kristian W Pajtler, David W Ellison, Nicholas K Foreman, Timothy A Ritzmann

PLOS Genetics. 2023 May 22.

Canonical correlation analysis for multi-omics: Application to cross-cohort analysis.

Min-Zhi Jiang, François Aguet, Kristin Ardlie, Jiawen Chen, Elaine Cornell, Dan Cruz, Peter Durda, Stacey B. Gabriel, Robert E. Gerszten, Xiuqing Guo, Craig W. Johnson, Silva Kasela, Leslie A. Lange, Tuuli Lappalainen, Yongmei Liu, Alex P. Reiner, Josh Smith, Tamar Sofer, Kent D. Taylor, Russell P. Tracy, David J. VanDenBerg, James G. Wilson, Stephen S. Rich, Jerome I. Rotter, Michael I. Love, Laura M. Raffield, Yun Li, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Analysis Working Group

Genetics in Medicine. 2023 May 5.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Noura S. Abul-Husn, Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M. Gallagher, Saurav Guha, Nicolette Ioele, Volkan Okur, Michelle A. Ramos, Jessica E. Rodriguez, Atteeq U. Rehman, Amanda Thomas-Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Diaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb

Pilot and Feasibility Studies. 2023 March 22.

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.

Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny & Melissa P. Wasserstein

Brain. 2023 Feb. 17.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke J F A van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja Scholz, Jinhui Ding, J Raphael Gibbs, Adriano Chiò, Clifton Dalgard, Ben Weisburd, The American Genome Center (TAGC) consortium, Genomics England Research Consortium , Project MinE ALS Sequencing Consortium , The NYGC ALS Consortium, Michael G Hanna, Linda Greensmith, Hemali Phatnani, Jan H Veldink, Bryan J Traynor, James Polke, Henry Houlden, Pietro Fratta, Arianna Tucci

Neuron. 2023 Feb. 1.

A cellular taxonomy of the adult human spinal cord.

Archana Yadav, Kaya J E Matson, Li Li, Isabelle Hua, Joana Petrescu, Kristy Kang, Mor R Alkaslasi, Dylan I Lee, Saadia Hasan, Ahmad Galuta, Annemarie Dedek, Sara Ameri, Jessica Parnell, Mohammad M Alshardan, Feras Abbas Qumqumji, Saud M Alhamad, Alick Pingbei Wang, Gaetan Poulen, Nicolas Lonjon, Florence Vachiery-Lahaye, Pallavi Gaur, Mike A Nalls, Yue A Qi, Dragan Maric, Michael E Ward, Michael E Hildebrand, Pierre-Francois Mery, Emmanuel Bourinet, Luc Bauchet, Eve C Tsai, Hemali Phatnani, Claire E Le Pichon, Vilas Menon, Ariel J Levine

Blood Cancer Discovery. 2023 Feb. 1.

Molecular evolution of classic Hodgkin lymphoma revealed through whole genome sequencing of Hodgkin and Reed Sternberg cells.

Francesco Maura, Bachisio Ziccheddu, Jenny Z Xiang, Bhavneet Bhinder, Joel Rosiene, Federico Abascal, Kylee H Maclachlan, Kenneth Wha Eng, Manik Uppal, Feng He, Wei Zhang, Qi Gao, Venkata D Yellapantula, Vicenta Trujillo-Alonso, Sunita I Park, Matthew J Oberley, Elizabeth Ruckdeschel, Megan S Lim, Gerald B Wertheim, Matthew J Barth, Terzah M Horton, Andriy Derkach, Alexandra E Kovach, Christopher J Forlenza, Yanming Zhang, Ola Landgren, Craig H Moskowitz, Ethel Cesarman, Marcin Imielinski, Olivier Elemento, Mikhail Roshal, Lisa Giulino-Roth

BMC. 2023 Jan. 25.

Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis.

Kristina L. Buschur, Craig Riley, Aabida Saferali, Peter Castaldi, Grace Zhang, Francois Aguet, Kristin G. Ardlie, Peter Durda, W. Craig Johnson, Silva Kasela, Yongmei Liu, Ani Manichaikul, Stephen S. Rich, Jerome I. Rotter, Josh Smith, Kent D. Taylor, Russell P. Tracy, Tuuli Lappalainen, R. Graham Barr, Frank Sciurba, Craig P. Hersh & Panayiotis V. Benos

This work was partially supported by a gift from the Simons Foundation.