Publications

Yoval-Sánchez B, Ansari F, James J, Niatsetskaya Z, Sosunov S, Filipenko P, Tikhonova IG, Ten V, Wittig I, Rafikov R et al..  2022.  Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart.. Redox Biol. 51:102258.

Yoval-Sánchez B, Ansari F, James J, Niatsetskaya Z, Sosunov S, Filipenko P, Tikhonova IG, Ten V, Wittig I, Rafikov R et al..  2022.  Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart.. Redox Biol. 51:102258.

Stein AN, Joglekar A, Poon C-L, Tilgner HU.  2022.  ScisorWiz: Visualizing Differential Isoform Expression in Single-Cell Long-Read Data.. Bioinformatics.

Mikheenko A, Prjibelski AD, Joglekar A, Tilgner HU.  2022.  Sequencing of individual barcoded cDNAs using Pacific Biosciences and Oxford Nanopore Technologies reveals platform-specific error patterns.. Genome Res. 32(4):726-737.

Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.

Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.

Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.

Tracy TE, Madero-Pérez J, Swaney DL, Chang TS, Moritz M, Konrad C, Ward ME, Stevenson E, Hüttenhain R, Kauwe G et al..  2022.  Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration.. Cell. 185(4):712-728.e14.

Tracy TE, Madero-Pérez J, Swaney DL, Chang TS, Moritz M, Konrad C, Ward ME, Stevenson E, Hüttenhain R, Kauwe G et al..  2022.  Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration.. Cell. 185(4):712-728.e14.

Tracy TE, Madero-Pérez J, Swaney DL, Chang TS, Moritz M, Konrad C, Ward ME, Stevenson E, Hüttenhain R, Kauwe G et al..  2022.  Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration.. Cell. 185(4):712-728.e14.

Watanabe M, Buth JE, Haney JR, Vishlaghi N, Turcios F, Elahi LS, Gu W, Pearson CA, Kurdian A, Baliaouri NV et al..  2022.  TGFβ superfamily signaling regulates the state of human stem cell pluripotency and capacity to create well-structured telencephalic organoids.. Stem Cell Reports. 17(10):2220-2238.

Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.

Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.

Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E.  2021.  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.

Navi BB, Sherman CP, Genova R, Mathias R, Lansdale KN, LeMoss NM, Wolfe J, Skakodub A, Kamel H, Tagawa ST et al..  2021.  Mechanisms of Ischemic Stroke in Patients with Cancer: A Prospective Study.. Ann Neurol. 90(1):159-169.

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Aleem AAbdel, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y et al..  2021.  Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.. Proc Natl Acad Sci U S A. 118(51)

Wong MYing, Lewis M, Doherty JJ, Shi Y, Cashikar AG, Amelianchik A, Tymchuk S, Sullivan PM, Qian M, Covey DF et al..  2020.  25-Hydroxycholesterol amplifies microglial IL-1β production in an apoE isoform-dependent manner.. J Neuroinflammation. 17(1):192.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2020.  Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2020.  Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.

P Ozdinler H, Gautam M, Gozutok O, Konrad C, Manfredi G, Gomez EArea, Mitsumoto H, Erb ML, Tian Z, Haase G.  2020.  Better understanding the neurobiology of primary lateral sclerosis.. Amyotroph Lateral Scler Frontotemporal Degener. 21(sup1):35-46.

Telesford KM, Kaunzner UW, Perumal J, Gauthier SA, Wu X, Díaz I, Kruse-Hoyer M, Engel C, Marcille M, Vartanian T.  2020.  Black African and Latino/a identity correlates with increased plasmablasts in MS.. Neurol Neuroimmunol Neuroinflamm. 7(1)

Telpoukhovskaia MA, Liu K, Sayed FA, Etchegaray JIker, Xie M, Zhan L, Li Y, Zhou Y, Le D, Bahr BA et al..  2020.  Discovery of small molecules that normalize the transcriptome and enhance cysteine cathepsin activity in progranulin-deficient microglia.. Sci Rep. 10(1):13688.

Tesileanu T, Conte MM, Briguglio JJ, Hermundstad AM, Victor JD, Balasubramanian V.  2020.  Efficient coding of natural scene statistics predicts discrimination thresholds for grayscale textures.. Elife. 9

Nitzsche A, Poittevin M, Benarab A, Bonnin P, Faraco G, Uchida H, Favre J, Garcia-Bonilla L, Garcia MCl, Leger P-LPl et al..  2020.  Endothelial S1P Signaling Counteracts Infarct Expansion in Ischemic Stroke.. Circ Res.

Nitzsche A, Poittevin M, Benarab A, Bonnin P, Faraco G, Uchida H, Favre J, Garcia-Bonilla L, Garcia MCl, Leger P-LPl et al..  2020.  Endothelial S1P Signaling Counteracts Infarct Expansion in Ischemic Stroke.. Circ Res.