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11626 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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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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| WoS
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 |
Published |
Journal Article |
IST-REx-ID: 17868 |
Reversed conductance decay of 1D topological insulators by tight-binding analysis
L. Li, S. Gunasekaran, Y. Wei, C. Nuckolls, L. Venkataraman, The Journal of Physical Chemistry Letters 13 (2022) 9703–9710.
[Preprint]
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L. Li, S. Gunasekaran, Y. Wei, C. Nuckolls, L. Venkataraman, The Journal of Physical Chemistry Letters 13 (2022) 9703–9710.
2022 |
Published |
Journal Article |
IST-REx-ID: 17869 |
Electric-field-induced coupling of aryl iodides with a nickel(0) complex
N.M. Orchanian, S. Guizzo, M.L. Steigerwald, C. Nuckolls, L. Venkataraman, Chemical Communications 58 (2022) 12556–12559.
[Preprint]
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N.M. Orchanian, S. Guizzo, M.L. Steigerwald, C. Nuckolls, L. Venkataraman, Chemical Communications 58 (2022) 12556–12559.
2022 |
Published |
Journal Article |
IST-REx-ID: 17870 |
Interfacial electric fields catalyze Ullmann coupling reactions on gold surfaces
I.B. Stone, R.L. Starr, N. Hoffmann, X. Wang, A.M. Evans, C. Nuckolls, T.H. Lambert, M.L. Steigerwald, T.C. Berkelbach, X. Roy, L. Venkataraman, Chemical Science 13 (2022) 10798–10805.
[Published Version]
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I.B. Stone, R.L. Starr, N. Hoffmann, X. Wang, A.M. Evans, C. Nuckolls, T.H. Lambert, M.L. Steigerwald, T.C. Berkelbach, X. Roy, L. Venkataraman, Chemical Science 13 (2022) 10798–10805.
2022 |
Published |
Journal Article |
IST-REx-ID: 17871
Highly conducting single-molecule topological insulators based on mono- and di-radical cations
L. Li, J.Z. Low, J. Wilhelm, G. Liao, S. Gunasekaran, C.R. Prindle, R.L. Starr, D. Golze, C. Nuckolls, M.L. Steigerwald, F. Evers, L.M. Campos, X. Yin, L. Venkataraman, Nature Chemistry 14 (2022) 1061–1067.
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L. Li, J.Z. Low, J. Wilhelm, G. Liao, S. Gunasekaran, C.R. Prindle, R.L. Starr, D. Golze, C. Nuckolls, M.L. Steigerwald, F. Evers, L.M. Campos, X. Yin, L. Venkataraman, Nature Chemistry 14 (2022) 1061–1067.
2022 |
Published |
Journal Article |
IST-REx-ID: 17872
Increased molecular conductance in Oligo[n]phenylene wires by thermally enhanced dihedral planarization
W. Lee, S. Louie, A.M. Evans, N.M. Orchanian, I.B. Stone, B. Zhang, Y. Wei, X. Roy, C. Nuckolls, L. Venkataraman, Nano Letters 22 (2022) 4919–4924.
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W. Lee, S. Louie, A.M. Evans, N.M. Orchanian, I.B. Stone, B. Zhang, Y. Wei, X. Roy, C. Nuckolls, L. Venkataraman, Nano Letters 22 (2022) 4919–4924.
2022 |
Published |
Journal Article |
IST-REx-ID: 17873 |
Theory of chirality induced spin selectivity: Progress and challenges
Evers F, Aharony A, Bar‐Gill N, Entin‐Wohlman O, Hedegård P, Hod O, Jelinek P, Kamieniarz G, Lemeshko M, Michaeli K, Mujica V, Naaman R, Paltiel Y, Refaely‐Abramson S, Tal O, Thijssen J, Thoss M, van Ruitenbeek JM, Venkataraman L, Waldeck DH, Yan B, Kronik L. 2022. Theory of chirality induced spin selectivity: Progress and challenges. Advanced Materials. 34(13), 2106629.
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Evers F, Aharony A, Bar‐Gill N, Entin‐Wohlman O, Hedegård P, Hod O, Jelinek P, Kamieniarz G, Lemeshko M, Michaeli K, Mujica V, Naaman R, Paltiel Y, Refaely‐Abramson S, Tal O, Thijssen J, Thoss M, van Ruitenbeek JM, Venkataraman L, Waldeck DH, Yan B, Kronik L. 2022. Theory of chirality induced spin selectivity: Progress and challenges. Advanced Materials. 34(13), 2106629.
2022 |
Published |
Journal Article |
IST-REx-ID: 17874 |
π-Conjugated redox-active two-dimensional polymers as organic cathode materials
Z. Jin, Q. Cheng, A.M. Evans, J. Gray, R. Zhang, S.T. Bao, F. Wei, L. Venkataraman, Y. Yang, C. Nuckolls, Chemical Science 13 (2022) 3533–3538.
[Published Version]
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Z. Jin, Q. Cheng, A.M. Evans, J. Gray, R. Zhang, S.T. Bao, F. Wei, L. Venkataraman, Y. Yang, C. Nuckolls, Chemical Science 13 (2022) 3533–3538.
2022 |
Published |
Journal Article |
IST-REx-ID: 17875
Gap size-dependent plasmonic enhancement in electroluminescent tunnel junctions
A.L. Paoletta, E.-D. Fung, L. Venkataraman, ACS Photonics 9 (2022) 688–693.
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| DOI
A.L. Paoletta, E.-D. Fung, L. Venkataraman, ACS Photonics 9 (2022) 688–693.
2022 |
Published |
Journal Article |
IST-REx-ID: 18191 |
Scalable Hamiltonian learning for large-scale out-of-equilibrium quantum dynamics
A. Valenti, G. Jin, J. Leonard, S.D. Huber, E. Greplova, Physical Review A 105 (2022).
[Preprint]
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| arXiv
A. Valenti, G. Jin, J. Leonard, S.D. Huber, E. Greplova, Physical Review A 105 (2022).
2022 |
Published |
Journal Article |
IST-REx-ID: 18211
Adversarial robustness via noise injection in smoothed models
Y. Nemcovsky, E. Zheltonozhskii, C. Baskin, B. Chmiel, A.M. Bronstein, A. Mendelson, Applied Intelligence 53 (2022) 9483–9498.
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Y. Nemcovsky, E. Zheltonozhskii, C. Baskin, B. Chmiel, A.M. Bronstein, A. Mendelson, Applied Intelligence 53 (2022) 9483–9498.
2022 |
Published |
Journal Article |
IST-REx-ID: 18220 |
Machine learning approaches demonstrate that protein structures carry information about their genetic coding
L. Ackerman-Schraier, A.A. Rosenberg, A. Marx, A.M. Bronstein, Scientific Reports 12 (2022).
[Published Version]
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L. Ackerman-Schraier, A.A. Rosenberg, A. Marx, A.M. Bronstein, Scientific Reports 12 (2022).
2022 |
Published |
Journal Article |
IST-REx-ID: 18221 |
Codon-specific Ramachandran plots show amino acid backbone conformation depends on identity of the translated codon
A.A. Rosenberg, A. Marx, A.M. Bronstein, Nature Communications 13 (2022).
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A.A. Rosenberg, A. Marx, A.M. Bronstein, Nature Communications 13 (2022).
2022 |
Published |
Journal Article |
IST-REx-ID: 18222 |
Embryologist agreement when assessing blastocyst implantation probability: Is data-driven prediction the solution to embryo assessment subjectivity?
D.E. Fordham, D. Rosentraub, A.L. Polsky, T. Aviram, Y. Wolf, O. Perl, A. Devir, S. Rosentraub, D.H. Silver, Y. Gold Zamir, A.M. Bronstein, M. Lara Lara, J. Ben Nagi, A. Alvarez, S. Munné, Human Reproduction 37 (2022) 2275–2290.
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D.E. Fordham, D. Rosentraub, A.L. Polsky, T. Aviram, Y. Wolf, O. Perl, A. Devir, S. Rosentraub, D.H. Silver, Y. Gold Zamir, A.M. Bronstein, M. Lara Lara, J. Ben Nagi, A. Alvarez, S. Munné, Human Reproduction 37 (2022) 2275–2290.
2022 |
Published |
Book Chapter |
IST-REx-ID: 18223
Recording Silence – Accurate Annotation of the Genetic Sequence Is Required to Better Understand How Synonymous Coding Affects Protein Structure and Disease
A.A. Rosenberg, A.M. Bronstein, A. Marx, in:, Z.E. Sauna, C. Kimchi-Sarfaty (Eds.), Single Nucleotide Polymorphisms, Springer Nature, Cham, 2022, pp. 37–47.
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A.A. Rosenberg, A.M. Bronstein, A. Marx, in:, Z.E. Sauna, C. Kimchi-Sarfaty (Eds.), Single Nucleotide Polymorphisms, Springer Nature, Cham, 2022, pp. 37–47.
2022 |
Published |
Journal Article |
IST-REx-ID: 18224 |
Baby steps towards few-shot learning with multiple semantics
E. Schwartz, L. Karlinsky, R. Feris, R. Giryes, A.M. Bronstein, Pattern Recognition Letters 160 (2022) 142–147.
[Preprint]
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E. Schwartz, L. Karlinsky, R. Feris, R. Giryes, A.M. Bronstein, Pattern Recognition Letters 160 (2022) 142–147.