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7388 Publications
2022 | Published | Journal Article | IST-REx-ID: 14356 | 
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin S-J, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon M-L, Rueschendorf F, Kong I-K, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim H-G, Varshney GK. 2022. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human Mutation. 43(10), 1472–1489.
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Lin S-J, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon M-L, Rueschendorf F, Kong I-K, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim H-G, Varshney GK. 2022. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human Mutation. 43(10), 1472–1489.
2022 | Published | Journal Article | IST-REx-ID: 14357 |
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly
Boegershausen N, Krawczyk HE, Jamra RA, Lin S-J, Yigit G, Huening I, Polo AM, Vona B, Huang K, Schmidt J, Altmueller J, Luppe J, Platzer K, Doergeloh BB, Busche A, Biskup S, Mendes, I M, Smith DEC, Salomons GS, Zibat A, Bueltmann E, Nuernberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. 2022. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Human Mutation. 43(10), 1454–1471.
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Boegershausen N, Krawczyk HE, Jamra RA, Lin S-J, Yigit G, Huening I, Polo AM, Vona B, Huang K, Schmidt J, Altmueller J, Luppe J, Platzer K, Doergeloh BB, Busche A, Biskup S, Mendes, I M, Smith DEC, Salomons GS, Zibat A, Bueltmann E, Nuernberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. 2022. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Human Mutation. 43(10), 1454–1471.
2022 | Published | Journal Article | IST-REx-ID: 10818 |
Microglia control glutamatergic synapses in the adult mouse hippocampus
Basilico B, Ferrucci L, Ratano P, Golia MT, Grimaldi A, Rosito M, Ferretti V, Reverte I, Sanchini C, Marrone MC, Giubettini M, De Turris V, Salerno D, Garofalo S, St‐Pierre M, Carrier M, Renzi M, Pagani F, Modi B, Raspa M, Scavizzi F, Gross CT, Marinelli S, Tremblay M, Caprioli D, Maggi L, Limatola C, Di Angelantonio S, Ragozzino D. 2022. Microglia control glutamatergic synapses in the adult mouse hippocampus. Glia. 70(1), 173–195.
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Basilico B, Ferrucci L, Ratano P, Golia MT, Grimaldi A, Rosito M, Ferretti V, Reverte I, Sanchini C, Marrone MC, Giubettini M, De Turris V, Salerno D, Garofalo S, St‐Pierre M, Carrier M, Renzi M, Pagani F, Modi B, Raspa M, Scavizzi F, Gross CT, Marinelli S, Tremblay M, Caprioli D, Maggi L, Limatola C, Di Angelantonio S, Ragozzino D. 2022. Microglia control glutamatergic synapses in the adult mouse hippocampus. Glia. 70(1), 173–195.
2022 | Published | Journal Article | IST-REx-ID: 10846 |
MON-2, a Golgi protein, promotes longevity by upregulating autophagy through mediating inter-organelle communications
M. Artan, J. Sohn, C. Lee, S.Y. Park, S.J.V. Lee, Autophagy 18 (2022) 1208–1210.
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M. Artan, J. Sohn, C. Lee, S.Y. Park, S.J.V. Lee, Autophagy 18 (2022) 1208–1210.
2022 | Published | Journal Article | IST-REx-ID: 10863 |
Symmetry-allowed nonlinear orbital response across the topological phase transition in centrosymmetric materials
M. Davydova, M. Serbyn, H. Ishizuka, Physical Review B 105 (2022).
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M. Davydova, M. Serbyn, H. Ishizuka, Physical Review B 105 (2022).
2022 | Published | Journal Article | IST-REx-ID: 10887 |
Functional John ellipsoids
G. Ivanov, M. Naszódi, Journal of Functional Analysis 282 (2022).
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G. Ivanov, M. Naszódi, Journal of Functional Analysis 282 (2022).
2022 | Published | Journal Article | IST-REx-ID: 10925 |
On the wavenumber-frequency spectrum of the wall pressure fluctuations in turbulent channel flow
B. Yang, Z. Yang, Journal of Fluid Mechanics 937 (2022).
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B. Yang, Z. Yang, Journal of Fluid Mechanics 937 (2022).
2022 | Published | Journal Article | IST-REx-ID: 10940 |
Magnetic field resilience of three-dimensional transmons with thin-film Al/AlOx/Al Josephson junctions approaching 1 T
J. Krause, C. Dickel, E. Vaal, M. Vielmetter, J. Feng, R. Bounds, G. Catelani, J.M. Fink, Y. Ando, Physical Review Applied 17 (2022).
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J. Krause, C. Dickel, E. Vaal, M. Vielmetter, J. Feng, R. Bounds, G. Catelani, J.M. Fink, Y. Ando, Physical Review Applied 17 (2022).
2022 | Published | Journal Article | IST-REx-ID: 10945 |
pH-dependent coloring of combination effect pigments with anthocyanins from Brassica oleracea var. capitata F. rubra
M.O. Çoruh, G. Gündüz, Ü. Çolak, B. Maviş, Colorants 1 (2022) 149–164.
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M.O. Çoruh, G. Gündüz, Ü. Çolak, B. Maviş, Colorants 1 (2022) 149–164.
2022 | Published | Thesis | IST-REx-ID: 11128 |
Genetic basis of flower colour as a model for adaptive evolution
L. Matejovicova, Genetic Basis of Flower Colour as a Model for Adaptive Evolution, Institute of Science and Technology Austria, 2022.
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L. Matejovicova, Genetic Basis of Flower Colour as a Model for Adaptive Evolution, Institute of Science and Technology Austria, 2022.
2022 | Published | Journal Article | IST-REx-ID: 11167 |
Structure of respiratory complex I – An emerging blueprint for the mechanism
D. Kampjut, L.A. Sazanov, Current Opinion in Structural Biology 74 (2022).
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D. Kampjut, L.A. Sazanov, Current Opinion in Structural Biology 74 (2022).
2022 | Published | Conference Paper | IST-REx-ID: 11181 |
PathCAS: An efficient middle ground for concurrent search data structures
T.A. Brown, W. Sigouin, D.-A. Alistarh, in:, Proceedings of the 27th ACM SIGPLAN Symposium on Principles and Practice of Parallel Programming, Association for Computing Machinery, 2022, pp. 385–399.
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T.A. Brown, W. Sigouin, D.-A. Alistarh, in:, Proceedings of the 27th ACM SIGPLAN Symposium on Principles and Practice of Parallel Programming, Association for Computing Machinery, 2022, pp. 385–399.
2022 | Published | Journal Article | IST-REx-ID: 11182 |
Quantifying the probing and selection of microenvironmental pores by motile immune cells
J. Kroll, M.J.A. Ruiz-Fernandez, M.B. Braun, J. Merrin, J. Renkawitz, Current Protocols 2 (2022).
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J. Kroll, M.J.A. Ruiz-Fernandez, M.B. Braun, J. Merrin, J. Renkawitz, Current Protocols 2 (2022).
2022 | Published | Journal Article | IST-REx-ID: 11186 |
Large deviations in random latin squares
M.A. Kwan, A. Sah, M. Sawhney, Bulletin of the London Mathematical Society 54 (2022) 1420–1438.
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M.A. Kwan, A. Sah, M. Sawhney, Bulletin of the London Mathematical Society 54 (2022) 1420–1438.
2022 | Published | Conference Paper | IST-REx-ID: 11331 |
Narwhal and Tusk: A DAG-based mempool and efficient BFT consensus
G. Danezis, E. Kokoris Kogias, A. Sonnino, A. Spiegelman, in:, Proceedings of the 17th European Conference on Computer Systems, Association for Computing Machinery, 2022, pp. 34–50.
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G. Danezis, E. Kokoris Kogias, A. Sonnino, A. Spiegelman, in:, Proceedings of the 17th European Conference on Computer Systems, Association for Computing Machinery, 2022, pp. 34–50.
2022 | Published | Journal Article | IST-REx-ID: 11333 |
Dynamic control of microbial movement by photoswitchable ATP antagonists
S. Thayyil, Y. Nishigami, M.J. Islam, P.K. Hashim, K. Furuta, K. Oiwa, J. Yu, M. Yao, T. Nakagaki, N. Tamaoki, Chemistry - A European Journal 28 (2022).
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S. Thayyil, Y. Nishigami, M.J. Islam, P.K. Hashim, K. Furuta, K. Oiwa, J. Yu, M. Yao, T. Nakagaki, N. Tamaoki, Chemistry - A European Journal 28 (2022).
2022 | Published | Journal Article | IST-REx-ID: 11339 |
Nutrient and salt depletion synergistically boosts glucose metabolism in individual Escherichia coli cells
G. Glover, M. Voliotis, U. Łapińska, B.M. Invergo, D. Soanes, P. O’Neill, K. Moore, N. Nikolic, P. Petrov, D.S. Milner, S. Roy, K. Heesom, T.A. Richards, K. Tsaneva-Atanasova, S. Pagliara, Communications Biology 5 (2022).
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G. Glover, M. Voliotis, U. Łapińska, B.M. Invergo, D. Soanes, P. O’Neill, K. Moore, N. Nikolic, P. Petrov, D.S. Milner, S. Roy, K. Heesom, T.A. Richards, K. Tsaneva-Atanasova, S. Pagliara, Communications Biology 5 (2022).
2022 | Published | Journal Article | IST-REx-ID: 11343 |
Vortices nucleation by inherent fluctuations in nematic liquid crystal cells
E. Aguilera, M.G. Clerc, V. Zambra, Nonlinear Dynamics 108 (2022) 3209–3218.
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E. Aguilera, M.G. Clerc, V. Zambra, Nonlinear Dynamics 108 (2022) 3209–3218.
2022 | Published | Journal Article | IST-REx-ID: 11401 |
Unidentified major p-type source in SnSe: Multivacancies
V.Q. Nguyen, T.L. Trinh, C. Chang, L.D. Zhao, T.H. Nguyen, V.T. Duong, A.T. Duong, J.H. Park, S. Park, J. Kim, S. Cho, NPG Asia Materials 14 (2022).
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V.Q. Nguyen, T.L. Trinh, C. Chang, L.D. Zhao, T.H. Nguyen, V.T. Duong, A.T. Duong, J.H. Park, S. Park, J. Kim, S. Cho, NPG Asia Materials 14 (2022).
2022 | Published | Journal Article | IST-REx-ID: 11417 |
Emerging qubit systems: Guest editorial
A.J. Sigillito, J.P. Covey, J.M. Fink, K. Petersson, S. Preble, Applied Physics Letters 120 (2022).
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A.J. Sigillito, J.P. Covey, J.M. Fink, K. Petersson, S. Preble, Applied Physics Letters 120 (2022).