Publication > Page 31
  • Nature Genetics  ·  July 26, 2021

    Recent ultra-rare inherited variants implicate new autism candidate risk genes.

    Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara H. Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael A. Bernier, The SPARK Consortium, Michael C. Zody & Evan E. Eichler

    Neuropsychiatric Disease Computational Biology Lab
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  • Genome Medicine  ·  July 19, 2021

    Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19.

    Fullard JF, Lee HC, Voloudakis G, Suo S, Javidfar B, Shao Z, Peter C, Zhang W, Jiang S, Corvelo A, Wargnier H, Woodoff-Leith E, Purohit DP, Ahuja S, Tsankova NM, Jette N, Hoffman GE, Akbarian S, Fowkes M, Crary JF, Yuan GC, Roussos P.
    Biology, Genomics & Technology Computational Biology Lab
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  • Seminars in Cancer Biology  ·  July 10, 2021

    Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology.

    Vaidehi Jobanputra, Kazimierz O Wrzeszczynski, Reinhard Buttner, Carlos Caldas, Edwin Cuppen, Sean Grimmond, Torsten Haferlach, Charles Mullighan, Anna Schuh, Olivier Elemento

    Cancer Biology, Genomics & Technology Clinical Genetics
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  • Human Genomics  ·  July 13, 2021

    Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

    Evin M Padhi, Tristan J Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D Hunter, Jennifer Akiyama, Lauren E Fries, Jeffrey K Ng, Elvisa Mehinovic, Nick Stong, Andrew S Allen, Diane E Dickel, Raphael A Bernier, David U Gorkin, Len A Pennacchio, Michael C Zody, Tychele N Turner

    Neuropsychiatric Disease Biology, Genomics & Technology Clinical Genetics Computational Biology Lab
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  • Nature Protocols  ·  July 9, 2021

    Smart-RRBS for single-cell methylome and transcriptome analysis.

    Gu H, Raman AT, Wang X, Gaiti F, Chaligne R, Mohammad AW, Arczewska A, Smith ZD, Landau DA, Aryee MJ, Meissner A, Gnirke A.
    Landau Lab Cancer
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  • Blood  ·  July 7, 2021

    Multimodal single-cell analysis of cutaneous T cell lymphoma reveals distinct sub-clonal tissue-dependent signatures.

    Herrera A, Cheng A, Mimitou EP, Seffens A, George DD, Bar-Natan M, Heguy A, Ruggles KV, Scher JU, Hymes K, Latkowski JA, Odum N, Kadin ME, Ouyang Z, Geskin L, Smibert P, Buus TB, Koralov S.

    Cancer Biology, Genomics & Technology Technology Innovation
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  • Seminars in Cancer Biology  ·  June 25, 2021

    Clinical utility of whole-genome sequencing in precision oncology.

    Richard Rosenquist, Edwin Cuppen, Reinhard Buettner, Carlos Caldas, Helene Dreau, Olivier Elemento, Geert Frederix, Sean Grimmond, Torsten Haferlach, Vaidehi Jobanputra, Manja Meggendorfer, Charles G Mullighan, Sarah Wordsworth, Anna Schuh

    Cancer Biology, Genomics & Technology Neurodegenerative Disease Clinical Genetics
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  • Proc Natl Acad Sci USA  ·  June 15, 2021

    ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.

    Olivia Harding, Chantell S Evans, Junqiang Ye, Jonah Cheung, Tom Maniatis, Erika L F Holzbaur

    Maniatis Lab Neurodegenerative Disease
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  • Seminars in Cancer Biology  ·  June 10, 2021

    Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology.

    Meggendorfer M, Jobanputra V, Wrzeszczynski KO, Roepman P, de Bruijn E, Cuppen E, Buttner R, Caldas C, Grimmond S, Mullighan CG, Elemento O, Rosenquist R, Schuh A, Haferlach T.
    Cancer Clinical Genetics
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