• bioRxiv  ·  August 28, 2020  ·  Preprint

    De Novo Mutation in an Enhancer of EBF3 in simplex autism.

    Evin M. Padhi, Tristan J. Hayeck, Brandon Mannion, Sumantra Chatterjee, Marta Byrska-Bishop, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Zhang Cheng, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey Ng, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner

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  • The Journal of Clinical Investigation  ·  August 13, 2020

    Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

    Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E. Hill, Jennifer Kachergus, Ji Shi, Michael Heckman, Matthew Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez De Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T. Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth M.C. Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neill R. Graff-Radford, Bradley Boeve, David S. Knopman, Ronald Petersen, Keith Josephs, E. Aubrey Thompson, Towfique Raj, Michael E. Ward, Dennis Dickson, Tania F. Gendron, Pietro Fratta, and Leonard Petrucelli

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  • bioRxiv  ·  July 24, 2020  ·  Preprint

    Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study.

    Jonathan Foox, Scott W. Tighe, Charles M. Nicolet, Justin M. Zook, Marta Byrska-Bishop, Wayne E. Clarke, Michael M. Khayat, Medhat Mahmoud, Phoebe K. Laaguiby, Zachary T. Herbert, Derek Warner, George S. Grills, Jin Jen, Shawn Levy, Jenny Xiang, Alicia Alonso, Gary P. Schroth, Fritz J. Sedlazeck, Giuseppe Narzisi, William Farmerie, Don A. Baldwin, Christopher E. Mason

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  • Current Opinion in Genetics & Development  ·  July 14, 2020

    The role of clustered protocadherins in neurodevelopment and neuropsychiatric diseases.

    Flaherty E, Maniatis T.

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  • Cell  ·  June 24, 2020

    Niche-Selective Inhibition of Pathogenic Th17 Cells by Targeting Metabolic Redundancy.

    Wu L, Hollinshead KER, Hao Y, Au C, Kroehling L, Ng C, Lin WY, Li D, Silva HM, Shin J, Lafaille JJ, Possemato R, Pacold ME, Papagiannakopoulos T, Kimmelman AC, Satija R, Littman DR.

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  • PLOS Computational Biology  ·  June 19, 2020

    A crowdsourced set of curated structural variants for the human genome.

    Lesley M. Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M. Watson, Christos Proukakis, Wayne E. Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M. Wenger, Marc Salit, Justin M. Zook

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  • bioRxiv  ·  June 20, 2020  ·  Preprint

    Phenome-scale causal network discovery with bidirectional mediated Mendelian randomization.

    Brielin C Brown, David A Knowles
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  • PLOS Computational Biology  ·  June 19, 2020

    A Crowdsourcing app to visualize evidence of structural variants for the human genome.

    Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M. Watson, Christos Proukakis, Wayne E. Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M. Wenger, Marc Salit, Justin M. Zook.
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  • bioRxiv  ·  June 16, 2020  ·  Preprint

    Improving oligo-conjugated antibody signal in multimodal single-cell analysis.

    Terkild Brink Buus, Alberto Herrera, Ellie Ivanova, Eleni Mimitou, Anthony Cheng, Thales Papagiannakopoulos, Peter Smibert, Niels Ødum, Sergei B. Koralov
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  • Cells  ·  June 5, 2020

    Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models.

    James A. Gregory, Emily Hoelzli, Rawaan Abdelaal, Catherine Braine, Miguel Cuevas, Madeline Halpern, Natalie Barretto, Nadine Schrode, Güney Akbalik, Kristy Kang, Esther Cheng, Kathryn Bowles, Steven Lotz, Susan Goderie, Celeste M. Karch, Sally Temple, Alison Goate, Kristen Brennand, Hemali Phatnani.

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  • Cell Reports  ·  June 2, 2020

    Acute Myeloid Leukemia iPSCs Reveal a Role for RUNX1 in the Maintenance of Human Leukemia Stem Cells.

    Wesely J, Kotini AG, Izzo F, Luo H, Yuan H, Sun J, Georgomanoli M, Zviran A, Deslauriers AG, Dusaj N, Nimer SD, Leslie C, Landau DA, Kharas MG, Papapetrou EP.

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  • bioRxiv  ·  June 1, 2020  ·  Preprint

    Direct detection of RNA modifications and structure using single molecule nanopore sequencing.

    William Stephenson, Roham Razaghi, Steven Busan, Kevin M. Weeks, Winston Timp, Peter Smibert

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  • Nature Medicine  ·  June 1, 2020

    Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring.

    Asaf Zviran, Rafael C. Schulman, Minita Shah, Steven T. K. Hill, Sunil Deochand, Cole C. Khamnei, Dillon Maloney, Kristofer Patel, Will Liao, Adam J. Widman, Phillip Wong, Margaret K. Callahan, Gavin Ha, Sarah Reed, Denisse Rotem, Dennie Frederick, Tatyana Sharova, Benchun Miao, Tommy Kim, Greg Gydush, Justin Rhoades, Kevin Y. Huang, Nathaniel D. Omans, Patrick O. Bolan, Andrew H. Lipsky, Chelston Ang, Murtaza Malbari, Catherine F. Spinelli, Selena Kazancioglu, Alexi M. Runnels, Samantha Fennessey, Christian Stolte, Federico Gaiti, Giorgio G. Inghirami, Viktor Adalsteinsson, Brian Houck-Loomis, Jennifer Ishii, Jedd D. Wolchok, Genevieve Boland, Nicolas Robine, Nasser K. Altorki & Dan A. Landau

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  • Genome Medicine  ·  May 27, 2020

    The Medical Genome Initiative: Moving Whole-Genome Sequencing for Rare Disease Diagnosis to the Clinic.

    Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, Jobanputra V, Kearney HM, Kulkarni S, Rehm H; Medical Genome Initiative.

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  • Am J Respir Crit Care Med  ·  May 27, 2020

    Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth.

    Lee EY, Mak AC, Hu D, Sajuthi S, White MJ, Keys KL, Eckalbar W, Bonser L, Huntsman S, Urbanek C, Eng C, Jain D, Abecasis G, Kang HM, Germer S, Zody MC, Nickerson DA, Erle D, Ziv E, Rodriguez-Santana J, Seibold MA, Burchard EG.

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  • Nature  ·  May 27, 2020

    Mapping and characterization of structural variation in 17,795 human genomes.

    Haley J. Abel, David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna L. Kanchi, Ryan M. Layer, Benjamin M. Neale, William J. Salerno, Catherine Reeves, Steven Buyske, NHGRI Centers for Common Disease Genomics, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel & Ira M. Hall

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  • The Lancet Psychiatry  ·  May 20, 2020

    Mental Health Delivery and Neurogenetics Discovery in Africa.

    Dan J Stein , Thomas Lehner, Zane Lombard, Beverly Pringle, Geetha Senthil, Monica Uddin

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