Publication Archives - Page 61 of 82 - New York Genome Center

Elife · July 13, 2018

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.

Phatnani Lab

Frontiers in immunology · June 27, 2018

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Requena D, Maffucci P, Bigio B, Shang L, Abhyankar A, Boisson B, Stenson PD, Cooper DN, Cunningham-Rundles C, Casanova JL, Abel L, Itan Y.

Clinical Genetics

Nature Methods · July 1, 2018

DeTiN: overcoming tumor-in-normal contamination.

Taylor-Weiner A, Stewart C, Giordano T, Miller M, Rosenberg M, Macbeth A, Lennon N, Rheinbay E, Landau DA, Wu CJ, Getz G.

Landau Lab

Genome Biology · December 19, 2018

Cell Hashing with barcoded antibodies enables multiplexing and doublet detection for single cell genomics.

Stoeckius M, Zheng S, Houck-Loomis, B, Hao S, Yeung B, Smibert P, Satija R.

Satija Lab

Genetics in Medicine · December 3, 2018

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Computational Biology Lab

Nucleic Acids Research · November 30, 2018

Single-cell stabilization method identifies gonadotrope transcriptional dynamics and pituitary cell type heterogeneity.

Ruf-Zamojski F, Ge Y, Nair V, Zamojski M, Pincas H, Toufaily C, Tome-Garcia J, Stoeckius M, Stephenson W, Smith GR, Bernard DJ, Tsankova NM, Hartmann BM, Fribourg M, Smibert P, Swerdlow H, Turgeon JL, Sealfon SC.

Genome Research · December 18, 2018

Human papillomavirus and the landscape of secondary genetic alterations in oral cancers.

Gillison ML, Akagi K, Xiao W, Jiang B, Pickard RKL, Li J, Swanson BJ, Agrawal AD, Zucker M, Stache-Crain B, Emde A-K, Geiger HM, Robine R, Coombes KR and Symer DE.

Computational Biology Lab

Science · December 14, 2018

Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk.

Rajarajan P, Borrman T, Liao W, Schrode N, Flaherty E, Casiño C, Powell S, Yashaswini C, LaMarca EA, Kassim B, Javidfar B, Espeso-Gil S, Li A, Won H, Geschwind DH, Ho SM, MacDonald M, Hoffman GE, Roussos P, Zhang B, Hahn CG, Weng Z, Brennand KJ, Akbarian S.

Computational Biology Lab

J Mol Diagn · November 2018

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

Wrzeszczynski KO, Felice V, Abhyankar A, Kozon L, Geiger H, Manaa D, London F, Robinson D, Fang X, Lin D, Lamendola-Essel MF, Khaira D, Dikoglu E, Emde AK, Robine N, Shah M, Arora K, Basturk O, Bhanot U, Kentsis A, Mansukhani MM, Bhagat G, Jobanputra V.

Clinical Genetics

Computational Biology Lab

Proc Natl Acad Sci USA · October 15, 2018

Impaired hematopoiesis and leukemia development in mice with a conditional knock-in allele of a mutant splicing factor gene U2af1.

Fei DL, Zhen T, Durham B, Ferrarone J, Zhang T, Garrett L, Yoshimi A, Abdel-Wahab O, Bradley RK, Liu P, Varmus H.