Publications

Our Scientific Publications

  • Molecular Psychiatry  ·  September 7, 2021

    Induction of dopaminergic neurons for neuronal subtype-specific modeling of psychiatric disease risk.

    Powell SK, O’Shea C, Townsley K, Prytkova I, Dobrindt K, Elahi R, Iskhakova M, Lambert T, Valada A, Liao W, Ho SM, Slesinger PA, Huckins LM, Akbarian S, Brennand KJ. doi: 10.1038/s41380-021-01273-0.

    Biology, Genomics & Technology Neuropsychiatric Disease Computational Biology Lab
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  • Cell Genomics  ·  September 3, 2021

    Transcriptome-wide Cas13 guide RNA design for model organisms and viral RNA pathogens.

    Xinyi Guo, Hans-Hermann Wessels, Alejandro Méndez-Mancilla, Daniel Haro, Neville E. Sanjana

    Sanjana Lab Biology, Genomics & Technology
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  • medRxiv  ·  September 2, 2021  ·  Preprint

    Integrative genetic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.

    Jack Humphrey, Sanan Venkatesh, Rahat Hasan, Jake T Herb, Katia de Paiva Lopes, Fahri Kucukali, Marta Byrska-Bishop, Uday S Evani, Giuseppe Narzisi, Delphine Fagegaltier, NYGC ALS Consortium, Kristel Sleegers, Hemali Phatnani, David A Knowles, Pietro Fratta, Towfique Raj

    Knowles Lab Phatnani Lab Biology, Genomics & Technology Neurodegenerative Disease Computational Biology Lab
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  • medRxiv  ·  August 23, 2021  ·  Preprint

    SARS-CoV-2 mRNA vaccine elicits a potent adaptive immune response in the absence of IFN-mediated inflammation observed in COVID-19.

    Ellie N. Ivanova, Joseph C. Devlin, Terkild B. Buus, Akiko Koide, Jasmine Shwetar, Amber Cornelius, Marie I. Samanovic, Alberto Herrera, Eleni P. Mimitou, Chenzhen Zhang, Ludovic Desvignes, Niels Odum, Peter Smibert, Robert J. Ulrich, Mark J. Mulligan, Shohei Koide, Kelly V. Ruggles, Ramin S. Herati, Sergei B. Koralov
    Biology, Genomics & Technology
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  • mSphere  ·  August 25, 2021

    Emergence of multiple SARS-CoV-2 antibody escape variants in an immunocompromised host undergoing convalescent plasma treatment.

    Liang Chen, Michael C. Zody, Clara Di Germanio, Rachel Martinelli, Jose R. Mediavilla, Marcus H. Cunningham, Kaelea Composto, Kar Fai Chow, Milena Kordalewska, André Corvelo, Dayna M. Oschwald, Samantha Fennessey, Marygrace Zetkulic, Sophia Dar, Yael Kramer, Barun Mathema, Soren Germer, Mars Stone, Graham Simmons, Michael P. Busch, Tom Maniatis, David S. Perlin, and Barry N. Kreiswirth

    Maniatis Lab Biology, Genomics & Technology Computational Biology Lab
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  • Hum Mol Genet  ·  August 20, 2021

    Epigenome-wide association study of mitochondrial genome copy number.

    Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Roby J, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium..
    Lappalainen Lab Biology, Genomics & Technology Computational Biology Lab
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  • Genome Biology  ·  August 23, 2021

    Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus.

    Silva Kasela, Zharko Daniloski, Tristan X. Jordan, Benjamin R. tenOever, Neville E. Sanjana, Tuuli Lappalainen
    Lappalainen Lab Sanjana Lab Biology, Genomics & Technology
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  • npg Genomic Medicine  ·  August 16, 2021

    Multiregional genetic evolution of metastatic uveal melanoma.

    Rodriguez DA, Yang J, Durante MA, Shoushtari AN, Moschos SJ, Wrzeszczynski KO, Harbour JW, Carvajal RD.

    Cancer Clinical Genetics
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  • bioRxiv  ·  August 16, 2021  ·  Preprint

    Fanconi Anemia Pathway Deficiency Drives Copy Number Variation in Squamous Cell Carcinomas.

    Andrew L.H. Webster, Mathijs A. Sanders, Krupa Patel, Ralf Dietrich, Raymond J. Noonan, Francis P. Lach, Ryan R. White, Audrey Goldfarb, Kevin Hadi, Matthew M. Edwards, Frank X. Donovan, Moonjung Jung, Sunandini Sridhar, Olivier Fedrigo, Huasong Tian, Joel Rosiene, Thomas Heineman, Jennifer A. Kennedy, Lorenzo Bean, Ozgur Rosti, Rebecca Tryon, Ashlyn-Maree Gonzalez, Allana Rosenberg, Ji-Dung Luo, Thomas Carrol, Eunike Velleuer, Jeff C. Rastatter, Susanne I. Wells, Jordi Surrallés, Grover Bagby, Margaret L. MacMillan, John E. Wagner, Maria Cancio, Farid Boulad, Theresa Scognamiglio, Roger Vaughan, Amnon Koren, Marcin Imielinski, Settara Chandrasekharappa, Arleen D. Auerbach, Bhuvanesh Singh, David I. Kutler, Peter J. Campbell, Agata Smogorzewska
    Imieliński Lab Cancer
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  • bioRxiv  ·  August 11, 2021  ·  Preprint

    Protein prediction for trait mapping in diverse populations.

    Ryan Schubert, Elyse Geoffroy, Isabelle Gregga, Ashley J. Mulford, Francois Aguet, Kristin Ardlie, Robert Gerszten, Clary Clish, David Van Den Berg, Kent D. Taylor, Peter Durda, W. Craig Johnson, Elaine Cornell, Xiuqing Guo, Yongmei Liu, Russell Tracy, Matthew Conomos, Cathy Laurie, Tom Blackwell, George Papanicolaou, Tuuli Lappalainen, Anna V. Mikhaylova, Timothy A. Thornton, Michael H. Cho, Christopher R. Gignoux, Leslie Lange, Ethan Lange, Stephen S. Rich, Jerome I. Rotter, NHLBI TOPMed Consortium, Ani Manichaikul, Hae Kyung Im, Heather E. Wheeler

    Lappalainen Lab Biology, Genomics & Technology Computational Biology Lab
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  • 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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  • 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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  • 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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