Publications

505 Results (Filters Applied)
Nature. 2023 Aug. 16.

Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.

Jeremy Setton, Kevin Hadi, Zi-Ning Choo, Katherine S. Kuchin, Huasong Tian, Arnaud Da Cruz Paula, Joel Rosiene, Pier Selenica, Julie Behr, Xiaotong Yao, Aditya Deshpande, Michael Sigouros, Jyothi Manohar, Jones T. Nauseef, Juan-Miguel Mosquera, Olivier Elemento, Britta Weigelt, Nadeem Riaz, Jorge S. Reis-Filho, Simon N. Powell & Marcin Imieliński

Cell Stem Cell. 2023 Aug. 14.

Single-cell multi-omics defines the cell-type specific impact of splicing aberrations in human hematopoietic clonal outgrowths.

Mariela Cortés-López, Paulina Chamely, Allegra G. Hawkins, Robert F. Stanley, Ariel D. Swett, Saravanan Ganesan, Tarek H. Mouhieddine, Xiaoguang Dai, Lloyd Kluegel, Celine Chen, Kiran Batta, Nili Furer, Rahul S. Vedula, John Beaulaurier, Alexander W. Drong, Scott Hickey, Neville Dusaj, Gavriel Mullokandov, Adam M. Stasiw, Jiayu Su, Ronan Chaligné, Sissel Juul, Eoghan Harrington, David A. Knowles, Catherine J. Potenski, Daniel H. Wiseman, Amos Tanay, Liran Shlush, Robert C. Lindsley, Irene M. Ghobrial, Justin Taylor, Omar Abdel-Wahab, Federico Gaiti, Dan A. Landau

Cell Reports. 2023 Aug. 2.

Polyclonal lymphoid expansion drives paraneoplastic autoimmunity in neuroblastoma.

Miriam I Rosenberg, Erez Greenstein, Martin Buchkovich, Ayelet Peres, Eric Santoni-Rugiu, Lei Yang, Martin Mikl, Zalman Vaksman, David L Gibbs, Dan Reshef, Amy Salovin, Meredith S Irwin, Arlene Naranjo, Igor Ulitsky, Pedro A de Alarcon, Katherine K Matthay, Victor Weigman, Gur Yaari, Jessica A Panzer, Nir Friedman, John M Maris

Genetics in Medicine. 2023 July 30.

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

Nature. 2023 July 19.

An atlas of healthy and injured cell states and niches in the human kidney.

Blue B. Lake, Rajasree Menon, Seth Winfree, Qiwen Hu, Ricardo Melo Ferreira, Kian Kalhor, Daria Barwinska, Edgar A. Otto, Michael Ferkowicz, Dinh Diep, Nongluk Plongthongkum, Amanda Knoten, Sarah Urata, Laura H. Mariani, Abhijit S. Naik, Sean Eddy, Bo Zhang, Yan Wu, Diane Salamon, James C. Williams, Xin Wang, Karol S. Balderrama, Paul J. Hoover, Evan Murray, Jamie L. Marshall, Teia Noel, Anitha Vijayan, Austin Hartman, Fei Chen, Sushrut S. Waikar, Sylvia E. Rosas, Francis P. Wilson, Paul M. Palevsky, Krzysztof Kiryluk, John R. Sedor, Robert D. Toto, Chirag R. Parikh, Eric H. Kim, Rahul Satija, Anna Greka, Evan Z. Macosko, Peter V. Kharchenko, Joseph P. Gaut, Jeffrey B. Hodgin, KPMP Consortium, Michael T. Eadon, Pierre C. Dagher, Tarek M. El-Achkar, Kun Zhang, Matthias Kretzler & Sanjay Jain

Nature Aging. 2023 July 3.

Spatial mapping of cellular senescence: emerging challenges and opportunities.

Aditi U. Gurkar, Akos A. Gerencser, Ana L. Mora, Andrew C. Nelson, Anru R. Zhang, Anthony B. Lagnado, Archibald Enninful, Christopher Benz, David Furman, Delphine Beaulieu, Diana Jurk, Elizabeth L. Thompson, Fei Wu, Fernanda Rodriguez, Grant Barthel, Hao Chen, Hemali Phatnani, Indra Heckenbach, Jeffrey H. Chuang, Jeremy Horrell, Joana Petrescu, Jonathan K. Alder, Jun Hee Lee, Laura J. Niedernhofer, Manoj Kumar, Melanie Königshoff, Marta Bueno, Miiko Sokka, Morten Scheibye-Knudsen, Nicola Neretti, Oliver Eickelberg, Peter D. Adams, Qianjiang Hu, Quan Zhu, Rebecca A. Porritt, Runze Dong, Samuel Peters, Stella Victorelli, Thomas Pengo, Timur Khaliullin, Vidyani Suryadevara, Xiaonan Fu, Ziv Bar-Joseph, Zhicheng Ji & João F. Passos

PLoS Genetics. 2023 June 23.

Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes.

Eric Van Buren, Giorgia Radicioni, Sarah Lester, Wanda K. O’Neal, Hong Dang, Silva Kasela, Suresh Garudadri, Jeffrey L. Curtis, MeiLan K. Han, Jerry A. Krishnan, Emily S. Wan, Edwin K. Silverman, Annette Hastie, Victor E. Ortega, Tuuli Lappalainen, Martijn C. Nawijn, Maarten van den Berge, Stephanie A. Christenson, Yun Li, Michael H. Cho, Mehmet Kesimer, Samir N. P. Kelada

Genetics. 2023 June 22.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza de Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig Hersh, Jill Johnsen, Robert Kaplan, Barbara Konkle, Charles Kooperberg, Rami Nassir, Ruth J.F. Loos, Deborah A Meyers, Braxton D. Mitchell, Bruce Psaty, Ramachandran S. Vasan, Stephen S. Rich, Michael Rienstra, Jerome I. Rotter, Aabida Saferali, M. Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen

Wiley. 2023 June 19.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

Katherine E. Bonini, Amanda Thomas-Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase, Nicole R. Kelly, Michelle A. Ramos, Beverly J. Insel, Laura Scarimbolo, Atteeq U. Rehman, Saurav Guha, Volkan Okur, Avinash Abhyankar, Shruti Phadke, Caroline Nava, Katie M. Gallagher, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul-Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Carol R. Horowitz, Eimear E. Kenny, Melissa Wasserstein, Bruce D. Gelb, Vaidehi Jobanputra

Nature. 2023 June 7.

Epigenetic dysregulation from chromosomal transit in micronuclei.

Albert S. Agustinus, Duaa Al-Rawi, Bhargavi Dameracharla, Ramya Raviram, Bailey S. C. L. Jones, Stephanie Stransky, Lorenzo Scipioni, Jens Luebeck, Melody Di Bona, Danguole Norkunaite, Robert M. Myers, Mercedes Duran, Seongmin Choi, Britta Weigelt, Shira Yomtoubian, Andrew McPherson, Eléonore Toufektchan, Kristina Keuper, Paul S. Mischel, Vivek Mittal, Sohrab P. Shah, John Maciejowski, Zuzana Storchova, Enrico Gratton, Peter Ly, Dan Landau, Mathieu F. Bakhoum, Richard P. Koche, Simone Sidoli, Vineet Bafna, Yael David & Samuel F. Bakhoum

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