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9113 Publications
2022 | 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 | 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 | Conference Paper | IST-REx-ID: 11185 |
Approximating the bundled crossing number
A.M. Arroyo Guevara, S. Felsner, in:, WALCOM 2022: Algorithms and Computation, Springer Nature, 2022, pp. 383–395.
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A.M. Arroyo Guevara, S. Felsner, in:, WALCOM 2022: Algorithms and Computation, Springer Nature, 2022, pp. 383–395.
2022 | Conference Paper | IST-REx-ID: 12775 |
Anytime guarantees for reachability in uncountable Markov decision processes
K. Grover, J. Kretinsky, T. Meggendorfer, M. Weininger, in:, 33rd International Conference on Concurrency Theory , Schloss Dagstuhl - Leibniz-Zentrum für Informatik, 2022.
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K. Grover, J. Kretinsky, T. Meggendorfer, M. Weininger, in:, 33rd International Conference on Concurrency Theory , Schloss Dagstuhl - Leibniz-Zentrum für Informatik, 2022.
2022 | Journal Article | IST-REx-ID: 12510 |
GoTube: Scalable statistical verification of continuous-depth models
S.A. Gruenbacher, M. Lechner, R. Hasani, D. Rus, T.A. Henzinger, S.A. Smolka, R. Grosu, Proceedings of the AAAI Conference on Artificial Intelligence 36 (2022) 6755–6764.
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S.A. Gruenbacher, M. Lechner, R. Hasani, D. Rus, T.A. Henzinger, S.A. Smolka, R. Grosu, Proceedings of the AAAI Conference on Artificial Intelligence 36 (2022) 6755–6764.