Publication > Page 34
  • Genetics in Medicine  ·  May 5, 2023

    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

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  • Science  ·  May 4, 2023

    Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens.

    John A. Morris, Christina Caragine, Zharko Daniloski, Júlia Domingo, Timothy Barry, Lu Lu, Kyrie Davis, Marcello Ziosi, Dafni A. Glinos, Stephanie Hao, Eleni P. Mimitou, Peter Smiber, Kathryn Roeder, Eugene Katsevich, Tuuli Lappalainen, Neville E. Sanjana

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  • Cell  ·  March 30, 2023

    The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.

    Joel Rozowsky, Jiahao Gao, Beatrice Borsari, Yucheng T Yang, Timur Galeev, Gamze Gürsoy, Charles Epstein, Kun Xiong, Jinrui Xu, Tianxiao Li, Jason Liu, et al.,

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  • Pilot and Feasibility Studies  ·  March 22, 2023

    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

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  • Brain  ·  February 17, 2023

    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

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  • Bioinformatics  ·  February 16, 2023

    LDmat: Efficiently Queryable Compression of Linkage Disequilibrium Matrices.

    Rockwell J Weiner, Chirag Lakhani, David A Knowles, Gamze Gürsoy

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  • Blood Cancer Discovery  ·  February 1, 2023

    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

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  • Neuron  ·  February 1, 2023

    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

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