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10615 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.
[Published Version]
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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: 14381
High-dimensional expanders (after Gromov, Kaufman, Kazhdan, Lubotzky, and others)
U. Wagner, Bulletin de La Societe Mathematique de France 438 (2022) 281–294.
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U. Wagner, Bulletin de La Societe Mathematique de France 438 (2022) 281–294.
2022 | Published | Journal Article | IST-REx-ID: 14437
Molecular engineering enables bright blue LEDs
H. Utzat, M. Ibáñez, Nature 612 (2022) 638–639.
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H. Utzat, M. Ibáñez, Nature 612 (2022) 638–639.
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.
[Published Version]
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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: 10827 |
High-pressure phase behaviors of titanium dioxide revealed by a Δ-learning potential
J.G. Lee, C.J. Pickard, B. Cheng, The Journal of Chemical Physics 156 (2022).
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J.G. Lee, C.J. Pickard, B. Cheng, The Journal of Chemical Physics 156 (2022).
2022 | Published | Journal Article | IST-REx-ID: 10829 |
Field-effect transistor with a plasmonic fiber optic gate electrode as a multivariable biosensor device
R. Hasler, C. Reiner-Rozman, S. Fossati, P. Aspermair, J. Dostalek, S. Lee, M. Ibáñez, J. Bintinger, W. Knoll, ACS Sensors 7 (2022) 504–512.
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R. Hasler, C. Reiner-Rozman, S. Fossati, P. Aspermair, J. Dostalek, S. Lee, M. Ibáñez, J. Bintinger, W. Knoll, ACS Sensors 7 (2022) 504–512.
2022 | Research Data Reference | IST-REx-ID: 10833 |
Field-effect transistor with a plasmonic fiber optic gate electrode as a multivariable biosensor device
R. Hasler, C. Reiner-Rozman, S. Fossati, P. Aspermair, J. Dostalek, S. Lee, M. Ibáñez, J. Bintinger, W. Knoll, (2022).
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R. Hasler, C. Reiner-Rozman, S. Fossati, P. Aspermair, J. Dostalek, S. Lee, M. Ibáñez, J. Bintinger, W. Knoll, (2022).
2022 | Published | Journal Article | IST-REx-ID: 10842
Factorization of some polynomials over finite local commutative rings and applications to certain self-dual and LCD codes
S. Köse, F. Özbudak, Cryptography and Communications 14 (2022) 933–948.
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S. Köse, F. Özbudak, Cryptography and Communications 14 (2022) 933–948.
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: 10939 |
Parameter inference for stochastic biochemical models from perturbation experiments parallelised at the single cell level
A. Davidović, R.P. Chait, G. Batt, J. Ruess, PLoS Computational Biology 18 (2022).
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A. Davidović, R.P. Chait, G. Batt, J. Ruess, PLoS Computational Biology 18 (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 | Journal Article | IST-REx-ID: 11051
Nuclear pore complex maintenance and implications for age-related diseases
J. Liu, M. Hetzer, Trends in Cell Biology 32 (2022) P216-227.
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J. Liu, M. Hetzer, Trends in Cell Biology 32 (2022) P216-227.
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 | Journal Article | IST-REx-ID: 11179 |
Functional control of a 0.5 MDa TET aminopeptidase by a flexible loop revealed by MAS NMR
D.F. Gauto, P. Macek, D. Malinverni, H. Fraga, M. Paloni, I. Sučec, A. Hessel, J.P. Bustamante, A. Barducci, P. Schanda, Nature Communications 13 (2022).
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D.F. Gauto, P. Macek, D. Malinverni, H. Fraga, M. Paloni, I. Sučec, A. Hessel, J.P. Bustamante, A. Barducci, P. Schanda, Nature Communications 13 (2022).