Publications

477 Results (Filters Applied)
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

medRxiv. 2023 Jan. 10.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C. Chao, Elaine Chen, Jacob Clifford, Ana S A Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M. Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A. Kelly, Jacob M. Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk, Medical Genome Initiative

Cold Spring Harbor Molecular Case Studies. 2022 Dec. 28.

Whole-genome characterization of myoepithelial carcinomas of the soft tissue.

Joanna Cyrta, Joel Rosiene, Rohan Bareja, Sarah Kudman, Wael Al Zoughbi, Samaneh Motanagh, David C Wilkes, Kenneth Eng, Tuo Zhang, Evan Sticca, Susan Mathew, Mark A Rubin, Andrea Sboner, Olivier Elemento, Brian P Rubin, Marcin Imielinski, Juan Miguel Mosquera

American Journal of Medical Genetics. 2022 Dec. 23.

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

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

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