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Center for Genomics of Neurodegenerative Disease Phatnani Lab

The Center for Genomics of Neurodegenerative Disease (CGND), established at NYGC in 2014, is dedicated to the study of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Alzheimer’s disease, frontotemporal dementia (FTD), etc. CGND’s vision is to establish a center for applying state-of-the-art genetics and genomics to the study of causes and mechanisms of these diseases.

CGND uses a uniquely collaborative approach to studying neurodegeneration; we serve as the hub of collaborative interactions between clinicians, computational biologists, and basic scientists, and build and disseminate tools and resources for the neurodegenerative disease research community. Our research program integrates multiple types of data (e.g., DNA and RNA sequencing, clinical information, histopathology, spatially-resolved RNA and protein data, etc.) from our ALS Consortium across multiple scales (e.g., population, tissue, singe cell, etc.). This integrative approach helps to better understand how disease-associated mutations affect gene expression and intercellular interactions in susceptible areas of the nervous system, and how this affects onset and spread of disease.

• We integrate genomic and clinical data from patients to identify new ALS-associated mutations and modifiers of disease onset/progression/presentation
• We design and create ALS models to test effects of mutations in stem cell derived neurons and in mouse models using cutting-edge genomic manipulation methods
• We study spatially-resolved gene expression patterns in both disease models and in postmortem samples from ALS patients. (The CGND was conceived to integrate and combine all the possible approaches to studying ALS. Without access to the sample sets of post-mortem tissue, this spatially-resolved project would not be possible.)

 

 

CGND also organizes annual symposia, workshops, and training modules as part of an education and outreach effort to make the results of our studies more generally accessible.

 

 

Director

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    Hemali Phatnani, PhD

    hemali

    Hemali Phatnani, PhD, serves as the Director, Center for Genomics of Neurodegenerative Disease (CGND) at NYGC. She has a joint appointment as Adjunct Assistant Professor of Neurogenetics in the Department of Neurology and the Institute for Genomic Medicine at Columbia University. Her research focuses on gene regulatory mechanisms that underlie the complex interactions between motor neurons and non-neuronal cells in the spinal cord of ALS mouse models, including astrocytes, microglia and oligodendrocytes. The goal of Dr. Phatnani’s research is to apply state-of-the-art genomics and bioinformatics to understand the role of cell-cell interactions in ALS pathophysiology.

    Dr. Phatnani carried out her postdoctoral studies in Dr. Tom Maniatis’ Lab at Harvard and Columbia Universities, where she studied ALS disease mechanisms using stem cell-derived motor neurons and genomic profiling methods. She established a novel cell culture system to study cell intrinsic and cell extrinsic effects of astrocytes on motor neuron gene expression, and discovered a complex interplay between the two cell types during ALS disease progression.

    Dr. Phatnani received her PhD in biochemistry and molecular biology at Duke University, where she characterized the interactions between RNA polymerase and proteins involved in the mechanistic coupling of RNA transcription and processing. She earned a B.Sc. in life sciences from Bombay (Mumbai) University.

     

     

Projects

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    Autophagy and ALS

    Group Lead: James Gregory

    ALS is a complex neurodegenerative disorder that involves the interaction of many genes and multiple cell types. Our long-term goal is to investigate how mutations that affect autophagy impact ALS disease risk, progression, and potential therapeutic interventions. Here, the short-term objective is to use human induced pluripotent stem cell (hiPSC)-derived motor neurons (MNs) and glia to investigate cell autonomous and non-autonomous effects of autophagic dysfunction. The central hypothesis is that ALS mutations differentially impact MN and glia function with respect to cellular stress, autophagy, and protein aggregation, and that this is reflected in the unique gene expression signatures of each cell type. A major component of this proposal is to build the tools necessary for efficient genome engineering and the methods with which to empirically query cell-type specific gene expression and cellular function within complex neuron/glia co-cultures. Altogether, our studies will elucidate the intra- and intercellular impact of autophagy dysfunction and provide a rigorous and systematic framework with which to evaluate the complex interactions of the growing list genetic variants and cell types linked to ALS.

     

    In 2006, Shinya Yamanaka’s lab demonstrated that mature cells could be reprogrammed into an immature stem cell. This Nobel prize winning work transformed the neuroscience field as subsequent laboratories turned human skin cells into stem cells, which were subsequently used to generate live human neurons. We use stem cells from ALS patients and healthy individuals to produce live human motor neurons and ask how mutations that cause ALS impact motor neuron function. These studies are a powerful tool to dissect the molecular basis of ALS.

     

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    Functional Genetics in ALS

    Group Lead: Delphine Fagegaltier

    CGND has engaged several collaborations to leverage the NYGC ALS Consortium datasets which are the largest collection of multi-tissue, multi-subject data in ALS. The working group uses these datasets to identify genes, pathways and regulatory elements contributing to human ALS disease and its associated variations with the aim to stratify ALS patients into molecular subtypes.

    The Functional Genetics working group explores regulatory elements, eQTLs, sQTLs, splicing defects and alterations of gene expression in the cohort to stratify ALS patients subtypes and characterize the molecular function of genetic variants and candidate genes in ALS. By identifying novel regulatory mechanisms leading to ALS, the multi-level analyses will enable a mechanistic interpretation of gene expression networks and the genetic basis of ALS disease. Integrative and comparative analyses to other neurodegenerative diseases aim to identify shared and specific dysregulations in neurological disease.

    Consortium data are also used for other studies. For example, in a study led by Jim Manley at Columbia University, the analysis of RNASeq data from about 60 ALS-FTD cases linked hnRNPH and TDP43 insolubility to the severity of splicing defects across the ALS and FTD spectrum at large, including sporadic ALS cases, thereby implying that hnRNPH sequestration away from its target genes was not restricted to patients carrying C9orf72 repeat expansions. In fact, splicing defects found in ALS and FTD appear when any of several RNA-binding proteins becomes insoluble, despite consistent TDP43 aggregate pathology. Changes in the concentration and the solubility of any of these proteins, even when introduced through subtle mutations, creates imbalanced RBP availability, leading in turn to various defects in RNA processing.

     

     

    Adapted from Conlon et al. Elife (2018)

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    Pathologic features and associated changes in gene expression in post mortem spinal cord and cortex from patients with ALS

    Group Lead: Joana Petrescu

    Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous disorder with respect to a) the site of onset of motor symptoms, b) whether or not motor symptoms are accompanied by cognitive impairment, c) the type of pathology observed in the brain and spinal cord, and d) which cell types are affected by this pathology. The sources of this heterogeneity are presently not well understood. Our aim is to identify pathological signatures which correlate with regional involvement and disease progression in ALS. Furthermore, we aim to identify the perturbations in cellular function and intercellular interactions which accompany pathological features in brain and spinal cord tissues from patients with ALS. In order to accomplish these aims, we are using highly multiplexed protein imaging to deeply phenotype pathological changes in tissues from patients with ALS and spatially resolved transcriptomic profiling to discover changes in gene expression profiles relative to these pathological features.

     

     

    Multiomic analysis of pathological features in post mortem tissues from patients with ALS-FTD.

    Fluidics and imaging setup for automated highly multiplexed immunofluorescence imaging.

     

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    Subcellular RNA localization in ALS

    Group Lead: Güney Akbalik

    The selective vulnerability of motor neurons (MNs) in ALS is poorly understood, particularly because many genes associated with ALS are ubiquitously expressed and involved in fundamental pathways that are essential across cell types. We hypothesize that the highly branched morphology of MNs and astrocytes compared to other cell types makes them more susceptible to RNA mislocalization, which may disrupt local protein synthesis at the distal spots (e.g. neuromuscular junctions) that is essential for normal cellular and synaptic function. Mislocalization of RNA may also disrupt intercellular communication between MNs, astrocytes, oligodendrocytes, etc. and contribute to ALS pathology. Indeed, human astrocytes can have up to several million protrusions with connections to neurons in the CNS. We aim to identify the subcellular transcriptome alterations in hiPSC-derived MNs and astrocytes from ALS patients with known mutations (TDP43, FUS, C9orf72, SOD1) compared to controls. The results will also elucidate whether RNA mislocalization is a common feature of ALS and could identify new avenues for drug targets.

    Astrocytes differentiated from human stem cells. Green and purple: markers specific for astrocytes. Blue: nucleus.

    Motor neurons differentiated from human stem cells. Axons: in magenta, dendrites: in green, nucleus: in blue

    Motor neurons (on the left compartment) projecting their axons to the right compartment of a microfluidic chamber through microchannels between two compartments. Axons: in green, dendrites: in red, nucleus: in blue. This system enables us to isolate axons separately to analyze axonal RNAs.

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    Transforming Growth Factor Beta Project Summary

    Project Lead: Cat Braine

    ALS is a genetically complex disease; diverse mutations cause motor neuron death by disrupting various interrelated pathways. To date no therapy targeting a single factor can rescue motor neuron loss. Transforming Growth Factor Beta (TGF-b) is upstream of many of the pathways changed in disease and has been shown to be dysregulated in multiple ALS models. Upregulation of TGF-b signaling has been identified as neuroprotective in many neurodegenerative disease models; however, there is evidence that endogenous TGF-b signaling is disrupted in ALS. The goal of this research is to understand how TGF-b signaling directly affects motor neuron survival and gene expression in the SOD1G93A model of ALS. This project’s central hypothesis is that disease related disruption of TGF-b signaling in motor neurons contributes to their death. This hypothesis will be tested using viral therapies in a transgenic ALS animal model followed by gene expression profiling. These studies will define the role of TGF-b signaling in diseased and healthy motor neurons and begin to unravel how this pathway antagonizes pro-inflammatory pathological processes in motor neurons that are vulnerable to this disease.

    Particle analysis of TGF-BRII accumulations (red) in motor neurons. Processed image for quantification on the right.

    GFAP (green), a marker of astrocytes, and IL-1B (red) an inflammatory cytokine co-localize in the ventral horn of a spinal cord where TGF-BRII has been conditionally knocked out of microglia.

    P62 accumulations in motor neurons in the ventral horn of the spinal cord of a diseased animal.

    TGF-BRII accumulations (magenta) in MMP9 (green) positive motor neurons. Nuclei are marked by DAPI (yellow).

     

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    ALUMNI
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      Rawan Abdelaal

      rawan_thumbRawan Abdelaal worked on the interactions between motor neurons and glial cells in ALS pathology using mouse and iPS cell-based models combined with NGS technology. She mostly focused on iPSC culture systems including differentiation of iPSCs into ALS relevant cell types (e.g. motor neurons, astrocytes, etc.) as well as organization of multiple lines of ALS patient-derived iPSCs and differentiated cells. Rawan graduated with a BS in Biotechnology from the City College of New York in Fall 2015.

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      Jan Bergmann

      8dd56f_24a295eceef04f6bbc7f3edb059ac265Jan studied biology at the University of Heidelberg in Germany and obtained a M.Sc. by research in life sciences from the University of Edinburgh in Scotland. He joined the laboratory of Prof. William Earnshaw, also at Edinburgh University, where he received his Ph.D. in Cell- and Molecular Biology for his seminal work demonstrating the relationship between local chromatin state, non-coding transcription and the epigenetic inheritance of the centromere locus in mammalian cells. In 2010, Dr. Bergmann moved to New York as postdoctoral fellow in Prof. David Spector’s group at Cold Spring Harbor Laboratory. Here, he spear-headed next-generation sequencing and computational approaches to identify a series of long non-coding RNAs as developmental biomarkers and potential targets for antisense oligonucleotide therapeutics.

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      Isabel Hubbard

      Isabel Hubbard was an Associate Scientist II at the Center for Genomics of Neurodegenerative Disease (CGND). Prior to joining the NYGC, she was a development scientist at a clinical reference laboratory, where she developed targeted oncology assays for the Illumina MiSeqDx and Ion PGM NGS platforms for use in patient molecular diagnostics. Isabel received a BS in Biological Sciences-Neuroscience Track from Carnegie Mellon University in 2013 and an MSc in Biomedical Sciences from University College London in 2014, where her thesis work involved investigating the underlying molecular and genetic pathways of the neuronal ceroid lipofuscinoses (NCLs), a group of early onset neurodegenerative disorders, under the supervision of Dr. Sara Mole at the MRC Laboratory for Molecular Cell Biology.

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      Kenneth Li

      ken_liKenneth was an undergraduate student at Columbia University on the pre-medicine track and graduated in 2017. He volunteered his time to focus on using computational methods and working with ALS-relevant cell populations (e.g. motor neurons, astrocytes, etc.) to understand the cell-type specific transcriptomics of disease progression over time in the SOD1-G93A mouse model of ALS.

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      Ian Laster

      8dd56f_e4acea111cc746d69c69492c24e1a187Ian Laster graduated from Columbia University with a BS in May 2014 and chose to gain research experience in our lab before applying to medical school. He joined the lab in December 2014 and worked closely with Dr. Jan Bergmann on cell-type specific translatomics in the spinal cord.

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      Ariel Shepley-McTaggart

      8dd56f_ece4c4a131124cf298ed803bed04b57eAriel Shepley-McTaggart graduated from Columbia University with a BA in May 2014. Ariel split her time between her life as a professional ballerina and personal trainer and volunteering in our lab several days a week. She worked closely with Catherine Braine, investigating the role of TGF-B in a mouse model of ALS. Ariel will attend University of Pennsylvania School of Veterinary Medicine in Fall 2016.

  • Recent Publications

    • Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.

      Irit Reichenstein,*, Chen Eitan, Sandra Diaz-Garcia, Guy Haim, Iddo Magen, Aviad Siany, Mariah L. Hoye, Natali Rivkin, Tsviya Olender, Beata Toth, Revital Ravid, Amitai D. Mandelbaum, Eran Yanowski, Jing Liang, Jeffrey K. Rymer, Rivka Levy, Gilad Beck, Elena Ainbinder, Sali M. K. Farhan, Kimberly A. Lennox, Nicole M. Bode, Mark A. Behlke, Thomas Möller, Smita Saxena, Cristiane A. M. Moreno, Giancarlo Costaguta, Kristel R. van Eijk, Hemali Phatnani, Ammar Al-Chalabi, A. Nazli Başak, Leonard H. van den Berg, Orla Hardiman, John E. Landers, Jesus S. Mora, Karen E. Morrison, Pamela J. Shaw, Jan H. Veldink, Samuel L. Pfaff, Ofer Yizhar, Christina Gross, Robert H. Brown Jr., John M. Ravits, Matthew B. Harms, Timothy M. Miller and Eran Hornstein


      Science Translational Medicine. 2019 Dec. 18.

    • Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

      Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.


      Nature Neuroscience. 2019 Nov. 25.

    • Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

      Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, The NYGC ALS Consortium, Delphine Fagegaltier, Brent T. Harris, Lyle W. Ostrow, Hemali Phatnani, John Ravits, Josh Dubnau, and Molly Gale Hammell


      Cell Reports. 2019 Oct. 29.

    • Synergistic effects of common schizophrenia risk variants.

      Schrode N, Ho SM, Yamamuro K, Dobbyn A, Huckins L, Matos MR, Cheng E, Deans PJM, Flaherty E, Barretto N, Topol A, Alganem K, Abadali S, Gregory J, Hoelzli E, Phatnani H, Singh V, Girish D, Aronow B, Mccullumsmith R, Hoffman GE, Stahl EA, Morishita H, Sklar P, Brennand KJ.


      Nature Genetics. 2019 Sep. 23.

    • Examining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs.

      Halpern M, Brennand KJ, Gregory J.


      Neurobiol Dis. 2019 Aug 2.

    • Spatiotemporal Dynamics of Molecular Pathology in Amyotrophic Lateral Sclerosis.

      Maniatis S, Tarmo Äijö, Sanja Vickovic, Catherine Braine, Kristy Kang, Annelie Mollbrink, Delphine Fagegaltier, Žaneta Andrusivová, Sami Saarenpää,Gonzalo Saiz-Castro, Miguel Cuevas, Aaron Watters, Joakim Lundeberg, Richard Bonneau, and Phatnani H.


      Science. 2019 Apr 4.

    • A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

      Gelfman S, Dugger SA, Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider N, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau G, Brown RH, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB.


      Genome Res. 2019 Apr 2.

    • The human brainome: network analysis identifies HSPA2 as a novel Alzheimer’s disease target.

      Petyuk VA, Chang R, Ramirez-Restrepo M, Beckmann ND, Henrion MYR, Piehowski PD, Zhu K, Wang S, Clarke J, Huentelman MJ, Xie F, Andreev V, Engel A, Guettoche T, Navarro L, De Jager P, Schneider JA, Morris CM, McKeith IG, Perry RH, Lovestone S, Woltjer RL, Beach TG, Sue LI, Serrano GE, Lieberman AP, Albin RL, Ferrer I, Mash DC, Hulette CM, Ervin JF, Reiman EM, Hardy JA, Bennett DA, Schadt E, Smith RD, Myers AJ.


      Brain. 2018 Sep 1.

    • Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons.

      Yuan Y, Xie S, Darnell JC, Darnell AJ, Saito Y, Phatnani H, Murphy EA, Zhang C, Maniatis T, Darnell RB.
       


      Genome Biol. 2018 Aug 15.

    • Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

      Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

      Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D; New York Genome Center ALS Consortium, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Van Deerlin VM, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Dubnau J, Nath A, Phatnani H, Shneider NA, Manley JL.


      Elife. 2018. Jul 13.

    • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

      Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D’Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr., van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.


      Neuron. 2018 Mar. 21.

    • Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.

      Wrzeszczynski KO, Felice V, Shah M, Rahman S, Emde AK, Jobanputra V, O Frank M, Darnell RB.
       


      Methods Mol Biol. 2018 Feb. 2.

    • Astrocytes in Neurodegenerative Disease.

      Phatnani H, Maniatis T.


      Cold Spring Harb Perspect Biol. 2015.

    • Dendritic cell vaccines containing lymphocytes produce improved immunogenicity in patients with cancer.

      Frank, M. O., Kaufman, J., Parveen, S., Blachère, N. E., Orange, D. E., Darnell, R. B.


      Journal of Translational Medicine, 2014. (PMID 25475068)

    • Genome Wide Mapping of Foxo1 Binding-sites in Murine T Lymphocytes

      Liao W, Ouyang W, Zhang MQ, Li MO.


      Genome Wide Mapping of Foxo1 Binding-sites in Murine
      T Lymphocytes. Genomics Data 2: 280-281, 2014.

  • Preprints

    • Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients.

      Farhan SMKHowrigan DPAbbott LByrnes AChurchhouse C, Phatnani HSmith BTopp SRampersaud EWu GWuu JGubitz AKilm JMordes DGhosh SCReATe ConsortiumFALS ConsortiumALSGENS ConsortiumEggan KRademakers RMcCauley JSchule RZuchner SBenatar MTaylor JPNalls MTraynor BShaw CGoldstein DHarms MDaly MNeale B.


      bioRxiv. 2018 Apr. 25.

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