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541 Publications
2022 |
Published |
Journal Article |
IST-REx-ID: 14355 |
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Cali E, Lin S-J, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Celik T, Narli N, Bianca S, Murphy D, Moreira FMDC, Accogli A, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Sahin Y, Al-Gazali L, Warde MTA, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H, Grp SynS. 2022. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genetics in Medicine. 24(10), 2194–2203.
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Cali E, Lin S-J, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Celik T, Narli N, Bianca S, Murphy D, Moreira FMDC, Accogli A, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Sahin Y, Al-Gazali L, Warde MTA, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H, Grp SynS. 2022. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genetics in Medicine. 24(10), 2194–2203.
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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| PubMed | Europe PMC
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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| PubMed | Europe PMC
H. Utzat, M. Ibáñez, Nature 612 (2022) 638–639.
2022 |
Research Data Reference |
IST-REx-ID: 14520 |
Compact vacuum gap transmon qubits: Selective and sensitive probes for superconductor surface losses
M. Zemlicka, E. Redchenko, M. Peruzzo, F. Hassani, A. Trioni, S. Barzanjeh, J.M. Fink, (2022).
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M. Zemlicka, E. Redchenko, M. Peruzzo, F. Hassani, A. Trioni, S. Barzanjeh, J.M. Fink, (2022).
2022 |
Submitted |
Preprint |
IST-REx-ID: 14597 |
Quantitative convergence of the vectorial Allen-Cahn equation towards multiphase mean curvature flow
J.L. Fischer, A. Marveggio, ArXiv (n.d.).
[Preprint]
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| arXiv
J.L. Fischer, A. Marveggio, ArXiv (n.d.).
2022 |
Submitted |
Preprint |
IST-REx-ID: 14600 |
Learning control policies for stochastic systems with reach-avoid guarantees
D. Zikelic, M. Lechner, T.A. Henzinger, K. Chatterjee, ArXiv (n.d.).
[Preprint]
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| arXiv
D. Zikelic, M. Lechner, T.A. Henzinger, K. Chatterjee, ArXiv (n.d.).
2022 |
Submitted |
Preprint |
IST-REx-ID: 14601 |
Learning stabilizing policies in stochastic control systems
D. Zikelic, M. Lechner, K. Chatterjee, T.A. Henzinger, ArXiv (n.d.).
[Preprint]
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| arXiv
D. Zikelic, M. Lechner, K. Chatterjee, T.A. Henzinger, ArXiv (n.d.).
2022 |
Research Data Reference |
IST-REx-ID: 13064 |
Improving genome-wide association discovery and genomic prediction accuracy in biobank data
E. Orliac, D. Trejo Banos, S. Ojavee, K. Läll, R. Mägi, P. Visscher, M.R. Robinson, (2022).
[Published Version]
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E. Orliac, D. Trejo Banos, S. Ojavee, K. Läll, R. Mägi, P. Visscher, M.R. Robinson, (2022).
2022 |
Research Data Reference |
IST-REx-ID: 13066 |
Data from: Genetic architecture of repeated phenotypic divergence in Littorina saxatilis ecotype evolution
E. Koch, M. Ravinet, A.M. Westram, K. Jonannesson, R. Butlin, (2022).
[Published Version]
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E. Koch, M. Ravinet, A.M. Westram, K. Jonannesson, R. Butlin, (2022).
2022 |
Research Data Reference |
IST-REx-ID: 13076 |
Multi-queues can be state-of-the-art priority schedulers
A. Postnikova, N. Koval, G. Nadiradze, D.-A. Alistarh, (2022).
[Published Version]
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A. Postnikova, N. Koval, G. Nadiradze, D.-A. Alistarh, (2022).
2022 |
Published |
Conference Paper |
IST-REx-ID: 13239 |
Predictive learning enables neural networks to learn complex working memory tasks
T.L. Van Der Plas, T.P. Vogels, S.G. Manohar, in:, Proceedings of Machine Learning Research, ML Research Press, 2022, pp. 518–531.
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T.L. Van Der Plas, T.P. Vogels, S.G. Manohar, in:, Proceedings of Machine Learning Research, ML Research Press, 2022, pp. 518–531.
2022 |
Published |
Journal Article |
IST-REx-ID: 13240 |
Tetracycline-controlled (TetON) gene expression system for the smut fungus Ustilago maydis
K.D. Ingole, N. Nagarajan, S. Uhse, C. Giannini, A. Djamei, Frontiers in Fungal Biology 3 (2022).
[Published Version]
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K.D. Ingole, N. Nagarajan, S. Uhse, C. Giannini, A. Djamei, Frontiers in Fungal Biology 3 (2022).
2022 |
Published |
Conference Paper |
IST-REx-ID: 13241 |
On the impossibility of fairness-aware learning from corrupted data
N.H. Konstantinov, C. Lampert, in:, Proceedings of Machine Learning Research, ML Research Press, 2022, pp. 59–83.
[Preprint]
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| arXiv
N.H. Konstantinov, C. Lampert, in:, Proceedings of Machine Learning Research, ML Research Press, 2022, pp. 59–83.
2022 |
Submitted |
Preprint |
IST-REx-ID: 13345 |
Catalan solids from superionic nanoparticles
T. Bian, I. Lobato, J. Wang, T.A. Nitka, T.S. Peled, B. Lee, S. Van Aert, S. Bals, L. Vuković, T. Altantzis, P. Král, R. Klajn, ChemRxiv (n.d.).
[Preprint]
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T. Bian, I. Lobato, J. Wang, T.A. Nitka, T.S. Peled, B. Lee, S. Van Aert, S. Bals, L. Vuković, T. Altantzis, P. Král, R. Klajn, ChemRxiv (n.d.).
2022 |
Published |
Journal Article |
IST-REx-ID: 13347 |
Encapsulation within a coordination cage modulates the reactivity of redox-active dyes
O. Yanshyna, M.J. Białek, O.V. Chashchikhin, R. Klajn, Communications Chemistry 5 (2022).
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O. Yanshyna, M.J. Białek, O.V. Chashchikhin, R. Klajn, Communications Chemistry 5 (2022).
2022 |
Published |
Journal Article |
IST-REx-ID: 13348 |
Altering the properties of spiropyran switches using coordination cages with different symmetries
J. Wang, L. Avram, Y. Diskin-Posner, M.J. Białek, W. Stawski, M. Feller, R. Klajn, Journal of the American Chemical Society 144 (2022) 21244–21254.
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J. Wang, L. Avram, Y. Diskin-Posner, M.J. Białek, W. Stawski, M. Feller, R. Klajn, Journal of the American Chemical Society 144 (2022) 21244–21254.
2022 |
Published |
Journal Article |
IST-REx-ID: 13350 |
Ternary host-guest complexes with rapid exchange kinetics and photoswitchable fluorescence
J. Gemen, M.J. Białek, M. Kazes, L.J.W. Shimon, M. Feller, S.N. Semenov, Y. Diskin-Posner, D. Oron, R. Klajn, Chem 8 (2022) 2362–2379.
[Published Version]
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| PubMed | Europe PMC
J. Gemen, M.J. Białek, M. Kazes, L.J.W. Shimon, M. Feller, S.N. Semenov, Y. Diskin-Posner, D. Oron, R. Klajn, Chem 8 (2022) 2362–2379.
2022 |
Published |
Journal Article |
IST-REx-ID: 13351 |
Electron catalysis expands the supramolecular chemist’s toolbox
J. Gemen, R. Klajn, Chem 8 (2022) 1183–1186.
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J. Gemen, R. Klajn, Chem 8 (2022) 1183–1186.