Publications

Found 345 results
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Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D et al..  2019.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.. Acta Neuropathol.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D et al..  2019.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.. Acta Neuropathol.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D et al..  2019.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.. Acta Neuropathol.
Addy NA, Nunes EJ, Hughley SM, Small KM, Baracz SJ, Haight JL, Rajadhyaksha AM.  2018.  The L-type calcium channel blocker, isradipine, attenuates cue-induced cocaine-seeking by enhancing dopaminergic activity in the ventral tegmental area to nucleus accumbens pathway.. Neuropsychopharmacology.
Addy NA, Nunes EJ, Hughley SM, Small KM, Baracz SJ, Haight JL, Rajadhyaksha AM.  2018.  The L-type calcium channel blocker, isradipine, attenuates cue-induced cocaine-seeking by enhancing dopaminergic activity in the ventral tegmental area to nucleus accumbens pathway.. Neuropsychopharmacology.
M
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C et al..  2017.  Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.. Genome Med. 9(1):113.
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C et al..  2017.  Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.. Genome Med. 9(1):113.
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C et al..  2017.  Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.. Genome Med. 9(1):113.
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C et al..  2017.  Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.. Genome Med. 9(1):113.
Zheng X, Wu B, Liu Y, Simmons SK, Kim K, Clarke GS, Ashiq A, Park J, Li J, Wang Z et al..  2024.  Massively parallel in vivo Perturb-seq reveals cell-type-specific transcriptional networks in cortical development.. Cell.
Huang Y, Liu B, Sinha SC, Amin S, Gan L.  2023.  Mechanism and therapeutic potential of targeting cGAS-STING signaling in neurological disorders.. Mol Neurodegener. 18(1):79.
O'Hara NB, Reed HJ, Afshinnekoo E, Harvin D, Caplan N, Rosen G, Frye B, Woloszynek S, Ounit R, Levy S et al..  2017.  Metagenomic characterization of ambulances across the USA.. Microbiome. 5(1):125.
Imam H, Khan M, Gokhale NS, McIntyre ABR, Kim G-W, Jang JYoung, Kim S-J, Mason CE, Horner SM, Siddiqui A.  2018.  -methyladenosine modification of hepatitis B virus RNA differentially regulates the viral life cycle.. Proc Natl Acad Sci U S A.
Luo W, Liu W, Hu X, Hanna M, Caravaca A, Paul SM.  2015.  Microglial internalization and degradation of pathological tau is enhanced by an anti-tau monoclonal antibody.. Sci Rep. 5:11161.
Luo W, Liu W, Hu X, Hanna M, Caravaca A, Paul SM.  2015.  Microglial internalization and degradation of pathological tau is enhanced by an anti-tau monoclonal antibody.. Sci Rep. 5:11161.
Danko DC, Meleshko D, Bezdan D, Mason C, Hajirasouliha I.  2018.  Minerva: an alignment- and reference-free approach to deconvolve Linked-Reads for metagenomics.. Genome Res.
Wuchty S, White AK, Olthof AM, Drake K, Hume AJ, Olejnik J, Aguiar-Pulido V, Mühlberger E, Kanadia RN.  2024.  Minor intron-containing genes as an ancient backbone for viral infection? PNAS Nexus. 3(1):pgad479.
Du H, Wong MYing, Zhang T, Santos MNunez, Hsu C, Zhang J, Yu H, Luo W, Hu F.  2021.  A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses.. Life Sci Alliance. 4(7)
Du H, Wong MYing, Zhang T, Santos MNunez, Hsu C, Zhang J, Yu H, Luo W, Hu F.  2021.  A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses.. Life Sci Alliance. 4(7)
Bok S, Yallowitz AR, Sun J, McCormick J, Cung M, Hu L, Lalani S, Li Z, Sosa BR, Baumgartner T et al..  2023.  A multi-stem cell basis for craniosynostosis and calvarial mineralization.. Nature. 621(7980):804-812.
Bok S, Yallowitz AR, Sun J, McCormick J, Cung M, Hu L, Lalani S, Li Z, Sosa BR, Baumgartner T et al..  2023.  A multi-stem cell basis for craniosynostosis and calvarial mineralization.. Nature. 621(7980):804-812.
Kuo S-H, Tasset I, Cheng MM, Diaz A, Pan M-K, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P et al..  2022.  Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.. Sci Adv. 8(6):eabm6393.